ClinVar Miner

List of variants in gene TSC1 reported as not provided

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Gene type:
ClinVar version:
Total variants: 582
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HGVS dbSNP
NM_000368.4(TSC1):c.*107T>C rs116917669
NM_000368.4(TSC1):c.*1332C>T rs397514841
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.*2230A>G rs397514781
NM_000368.4(TSC1):c.*2641G>T rs397514827
NM_000368.4(TSC1):c.*2893delA rs143549363
NM_000368.4(TSC1):c.*3258G>C rs397514877
NM_000368.4(TSC1):c.*3260G>C rs397514782
NM_000368.4(TSC1):c.*358C>T rs147729052
NM_000368.4(TSC1):c.*361C>T rs397514844
NM_000368.4(TSC1):c.*3935C>T rs397514787
NM_000368.4(TSC1):c.*3936C>T rs397514853
NM_000368.4(TSC1):c.*4591G>T rs397514821
NM_000368.4(TSC1):c.*913C>T rs117425923
NM_000368.4(TSC1):c.-129A>T rs116951280
NM_000368.4(TSC1):c.-16G>A rs114970627
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.-80-2A>G rs587778003
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.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.1020del (p.Glu340fs) rs118203484
NM_000368.4(TSC1):c.1029+1G>A rs118203485
NM_000368.4(TSC1):c.1029+34C>G rs587778002
NM_000368.4(TSC1):c.1030-1G>A rs118203489
NM_000368.4(TSC1):c.1030-3C>G rs118203488
NM_000368.4(TSC1):c.1030-9A>G rs118203487
NM_000368.4(TSC1):c.1030delG rs118203486
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.1047A>G (p.Pro349=) rs118203492
NM_000368.4(TSC1):c.106+15A>G rs80258442
NM_000368.4(TSC1):c.106+47A>C rs373390352
NM_000368.4(TSC1):c.107-2A>G rs118203332
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.1096_1109del (p.Pro366fs) rs118203494
NM_000368.4(TSC1):c.109dup (p.Arg37fs) rs118203333
NM_000368.4(TSC1):c.1101_1114del (p.Asp368fs) rs118203495
NM_000368.4(TSC1):c.1105C>T (p.Leu369=) rs118203496
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.1118dup (p.Tyr373Ter) rs118203499
NM_000368.4(TSC1):c.1141+1G>T rs397514819
NM_000368.4(TSC1):c.1142-33A>G rs6597586
NM_000368.4(TSC1):c.1152del (p.Gly385fs) rs118203501
NM_000368.4(TSC1):c.1166del (p.Gly389fs) rs397514832
NM_000368.4(TSC1):c.1196_1209del (p.Pro399fs) rs118203502
NM_000368.4(TSC1):c.1203del (p.His402fs) rs118203503
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.4(TSC1):c.1231C>A (p.Leu411Ile) rs397514840
NM_000368.4(TSC1):c.1249del (p.Thr417fs) rs397514792
NM_000368.4(TSC1):c.1250C>T (p.Thr417Ile) rs77464996
NM_000368.4(TSC1):c.1250del (p.Thr417fs) rs397514778
NM_000368.4(TSC1):c.1257del (p.Arg420fs) rs118203506
NM_000368.4(TSC1):c.1263+88A>G rs118203507
NM_000368.4(TSC1):c.1264-12T>C rs118203508
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.1279del (p.Ser427fs) rs118203510
NM_000368.4(TSC1):c.1282_1283delinsCT (p.Ala428Leu) rs587778721
NM_000368.4(TSC1):c.1303C>T (p.Gln435Ter) rs118203511
NM_000368.4(TSC1):c.130dup (p.Thr44fs) rs118203336
NM_000368.4(TSC1):c.131_132dup (p.Leu45fs) rs118203337
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.1333+13C>T rs118203516
NM_000368.4(TSC1):c.1333+5A>G rs118203515
NM_000368.4(TSC1):c.1333dupG rs118203514
NM_000368.4(TSC1):c.1334-55C>G rs7872606
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1338del (p.Glu446fs) rs118203517
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.1354G>C (p.Gly452Arg) rs118203519
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.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.1379del (p.Pro460fs) rs118203525
NM_000368.4(TSC1):c.1411_1412insT (p.Asp471fs) rs118203526
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+6G>A rs118203530
NM_000368.4(TSC1):c.1439-1G>A rs397514804
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.1452del (p.Glu485fs) rs397514797
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.146del (p.Tyr49fs) rs397514861
NM_000368.4(TSC1):c.1470del (p.Thr491fs) rs118203534
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.148del (p.Leu50fs) rs118203340
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.1503del (p.Gly502fs) rs397514876
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.1525C>T (p.Arg509Ter) rs118203542
NM_000368.4(TSC1):c.1526G>A (p.Arg509Gln) rs118203543
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.153A>C (p.Glu51Asp) rs118203342
NM_000368.4(TSC1):c.1542_1543insG (p.Ser515fs) rs118203546
NM_000368.4(TSC1):c.1559del (p.His520fs) rs118203547
NM_000368.4(TSC1):c.1567G>C (p.Ala523Pro) rs118203548
NM_000368.4(TSC1):c.1572C>G (p.Ser524=) rs397514810
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.4(TSC1):c.1580_1581del (p.Gln527fs) rs118203550
NM_000368.4(TSC1):c.1584C>T (p.Gly528=) rs149439187
NM_000368.4(TSC1):c.1615del (p.Ser539fs) rs118203551
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.1676dup (p.Cys559fs) rs118203558
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.1687del (p.Asp563fs) rs118203561
NM_000368.4(TSC1):c.1692_1693del (p.Ser565fs) rs118203562
NM_000368.4(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.4(TSC1):c.1700C>T (p.Ala567Val) rs397514880
NM_000368.4(TSC1):c.1703dup (p.Asp569fs) rs397514777
NM_000368.4(TSC1):c.1708_1709del (p.Arg570fs) rs118203564
NM_000368.4(TSC1):c.1717C>T (p.Gln573Ter) rs118203565
NM_000368.4(TSC1):c.1724C>T (p.Ser575Phe) rs118203566
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.1729G>T (p.Glu577Ter) rs118203570
NM_000368.4(TSC1):c.1731G>C (p.Glu577Asp) rs118203571
NM_000368.4(TSC1):c.1736del (p.Ser579fs) rs118203572
NM_000368.4(TSC1):c.1746dup (p.Pro583fs) rs118203573
NM_000368.4(TSC1):c.1749_1750del (p.Pro585fs) rs118203574
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.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.1773_1774dup (p.Thr592fs) rs118203579
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.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.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.1849C>G (p.His617Asp) rs397514854
NM_000368.4(TSC1):c.1851del (p.His618fs) rs118203590
NM_000368.4(TSC1):c.1857del (p.Phe619fs) rs118203591
NM_000368.4(TSC1):c.1876G>T (p.Glu626Ter) rs397514815
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.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.1890dup (p.Ala631fs) rs118203596
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.1911del (p.Asp638fs) rs397514801
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.1942del (p.Val648fs) rs118203600
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>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.1968A>C (p.Gly656=) rs118203607
NM_000368.4(TSC1):c.1974C>G (p.Asp658Glu) rs118203608
NM_000368.4(TSC1):c.1976C>T (p.Ala659Val) rs118203609
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+71_1997+72del rs118203612
NM_000368.4(TSC1):c.1998-1G>A rs118203614
NM_000368.4(TSC1):c.1998-1G>C rs118203614
NM_000368.4(TSC1):c.1998-53G>A rs368679682
NM_000368.4(TSC1):c.1998-54C>T rs118203613
NM_000368.4(TSC1):c.1998G>A (p.Lys666=) rs118203616
NM_000368.4(TSC1):c.2006T>G (p.Leu669Ter) rs118203617
NM_000368.4(TSC1):c.2022C>T (p.Val674=) rs118203618
NM_000368.4(TSC1):c.2022del (p.Asp675fs) rs118203619
NM_000368.4(TSC1):c.2023del (p.Asp675fs) rs118203620
NM_000368.4(TSC1):c.2028G>A (p.Trp676Ter) rs118203621
NM_000368.4(TSC1):c.2030_2040del (p.Thr677fs) rs118203622
NM_000368.4(TSC1):c.2033_2041+14del rs397514817
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.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.2044_2045TC[1] (p.Pro683fs) rs397514869
NM_000368.4(TSC1):c.2047_2049CCT[1] (p.Pro684del) rs397514799
NM_000368.4(TSC1):c.2054C>A (p.Ser685Ter) rs118203629
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.2074C>T (p.Arg692Ter) rs118203631
NM_000368.4(TSC1):c.2077G>C (p.Asp693His) rs397514800
NM_000368.4(TSC1):c.2080C>T (p.Gln694Ter) rs397514789
NM_000368.4(TSC1):c.2082del (p.Gln694fs) rs118203632
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.2097dup (p.Asn700fs) rs118203635
NM_000368.4(TSC1):c.210+18A>G rs118203349
NM_000368.4(TSC1):c.210+1G>A rs118203348
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.2106_2107insGTTTA (p.Leu703fs) rs118203642
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.211-11dup rs397514775
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.2110dup (p.Tyr704fs) rs118203644
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.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.2145del (p.Asn716fs) rs118203650
NM_000368.4(TSC1):c.2146_2153dup (p.Leu719fs) rs397514803
NM_000368.4(TSC1):c.214C>G (p.Leu72Val)
NM_000368.4(TSC1):c.2151dup (p.Arg718fs) rs118203651
NM_000368.4(TSC1):c.215T>C (p.Leu72Pro) rs118203354
NM_000368.4(TSC1):c.2164A>T (p.Lys722Ter) rs397514772
NM_000368.4(TSC1):c.2169del (p.Ile724fs) rs118203652
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.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.2208+23G>A rs118203658
NM_000368.4(TSC1):c.2209-35A>G rs118203659
NM_000368.4(TSC1):c.2209-9C>T rs118203660
NM_000368.4(TSC1):c.2221A>C (p.Lys741Gln) rs587778723
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.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.2272C>T (p.Gln758Ter) rs397514783
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.2281_2284dup (p.Asn762fs) rs118203667
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.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2287C>T (p.Gln763Ter) rs118203671
NM_000368.4(TSC1):c.2291del (p.Leu764fs) rs118203672
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>T (p.Gln767Ter) rs118203675
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.2326_2327CA[1] (p.His776fs) rs118203678
NM_000368.4(TSC1):c.2329del (p.Ser777fs) rs397514780
NM_000368.4(TSC1):c.2332C>T (p.Gln778Ter) rs118203679
NM_000368.4(TSC1):c.2341C>T (p.Gln781Ter) rs118203680
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.2357del (p.Arg786fs) rs118203683
NM_000368.4(TSC1):c.2360_2364del (p.Glu787fs) rs118203684
NM_000368.4(TSC1):c.2362G>T (p.Glu788Ter) rs118203685
NM_000368.4(TSC1):c.2364del (p.Glu788fs) rs118203686
NM_000368.4(TSC1):c.2387dup (p.Leu796fs) rs397514786
NM_000368.4(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.4(TSC1):c.2392-1G>A rs397514822
NM_000368.4(TSC1):c.2392-35T>C rs11243931
NM_000368.4(TSC1):c.2401G>T (p.Glu801Ter) rs118203687
NM_000368.4(TSC1):c.2407del (p.Cys803fs) rs118203688
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.2425G>C (p.Glu809Gln) rs118203692
NM_000368.4(TSC1):c.2431C>G (p.Arg811Gly) rs397514814
NM_000368.4(TSC1):c.2456_2459del (p.Asn819fs) rs118203693
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.2471_2472del (p.Thr824fs) rs118203698
NM_000368.4(TSC1):c.2478G>C (p.Leu826=) rs149719514
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.2497C>T (p.Gln833Ter) rs118203700
NM_000368.4(TSC1):c.2501dup (p.Leu835fs) rs118203701
NM_000368.4(TSC1):c.2502+51A>G rs75802666
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.2505C>T (p.Leu835=) rs112384441
NM_000368.4(TSC1):c.2507C>G (p.Ser836Ter) rs118203706
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.2521dup (p.Val841fs) rs397514850
NM_000368.4(TSC1):c.2523C>T (p.Val841=) rs397514825
NM_000368.4(TSC1):c.2528_2534del (p.Gln843fs) rs118203710
NM_000368.4(TSC1):c.252dup (p.Thr85fs) rs118203358
NM_000368.4(TSC1):c.2559_2562del (p.Leu853fs) rs118203711
NM_000368.4(TSC1):c.2569del (p.Glu857fs) rs118203712
NM_000368.4(TSC1):c.2569dup (p.Glu857fs) rs118203712
NM_000368.4(TSC1):c.2582del (p.Leu861fs) rs397514865
NM_000368.4(TSC1):c.2595del (p.Gln865fs) rs118203714
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.2625+1G>A rs118203715
NM_000368.4(TSC1):c.2626-1G>A rs397514847
NM_000368.4(TSC1):c.2626-2A>G rs118203717
NM_000368.4(TSC1):c.2626-4T(17_21) rs5901000
NM_000368.4(TSC1):c.2626-4delT rs5901000
NM_000368.4(TSC1):c.2626_2975del
NM_000368.4(TSC1):c.2626_3495del
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.2652T>A (p.Tyr884Ter) rs397514805
NM_000368.4(TSC1):c.2653C>T (p.Arg885Trp) rs118203723
NM_000368.4(TSC1):c.2657_2658del (p.Lys886fs) rs397514788
NM_000368.4(TSC1):c.2658del (p.Glu887fs) rs397514788
NM_000368.4(TSC1):c.2665_2666delinsAT (p.Glu889Ile) rs587778724
NM_000368.4(TSC1):c.2671_2672dup (p.Asn891fs) rs118203724
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.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.2716C>T (p.Gln906Ter) rs118203732
NM_000368.4(TSC1):c.272C>A (p.Ser91Ter) rs118203361
NM_000368.4(TSC1):c.2749G>C (p.Ala917Pro) rs397514873
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>T (p.Gln926Ter) rs397514879
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.2813+3_2813+21del19 rs118203737
NM_000368.4(TSC1):c.2813+51A>G rs118203738
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2830_2831insGCCTG (p.Ala944fs) rs118203739
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
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.3030G>T (p.Glu1010Asp) rs118203741
NM_000368.4(TSC1):c.308G>A (p.Trp103Ter) rs118203364
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.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.3140C>T (p.Thr1047Ile) rs587778726
NM_000368.4(TSC1):c.3147G>C (p.Glu1049Asp) rs397514831
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.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.4(TSC1):c.3195G>A (p.Thr1065=) rs118203746
NM_000368.4(TSC1):c.320_321TC[2] (p.Gln109fs) rs397514795
NM_000368.4(TSC1):c.3216C>T (p.Ala1072=) rs118203747
NM_000368.4(TSC1):c.3231T>C (p.Thr1077=) rs118203748
NM_000368.4(TSC1):c.325C>T (p.Gln109Ter) rs397514774
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3290G>A (p.Arg1097His) rs118203750
NM_000368.4(TSC1):c.3303G>A (p.Glu1101=) rs118203751
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.332_333CT[3] (p.Leu113fs) rs118203366
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.338del (p.Leu113fs) rs118203367
NM_000368.4(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.350T>C (p.Leu117Pro) rs118203368
NM_000368.4(TSC1):c.362A>G (p.Lys121Arg) 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+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.372dup (p.Asp125Ter) rs118203377
NM_000368.4(TSC1):c.376G>A (p.Val126Ile) rs397514843
NM_000368.4(TSC1):c.381_383del (p.Val128del) rs118203378
NM_000368.4(TSC1):c.385dup (p.Leu129fs) rs397514852
NM_000368.4(TSC1):c.395G>A (p.Gly132Asp) rs397514784
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.431_432CA[1] (p.Gln145fs) rs118203383
NM_000368.4(TSC1):c.433C>T (p.Gln145Ter) rs118203382
NM_000368.4(TSC1):c.445C>T (p.Gln149Ter) rs118203384
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.489A>T (p.Ser163=) rs118203386
NM_000368.4(TSC1):c.491G>A (p.Trp164Ter) rs118203387
NM_000368.4(TSC1):c.495C>A (p.Cys165Ter) rs118203388
NM_000368.4(TSC1):c.504del (p.Lys168fs) rs118203389
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.509-15G>A rs118203391
NM_000368.4(TSC1):c.520G>T (p.Glu174Ter) rs118203392
NM_000368.4(TSC1):c.524dup (p.Tyr176fs) rs118203393
NM_000368.4(TSC1):c.527_528del (p.Tyr176fs) rs118203394
NM_000368.4(TSC1):c.530del (p.Leu177fs) rs397514794
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.542A>C (p.His181Pro) rs397515294
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.563_564del (p.Phe188fs) rs118203399
NM_000368.4(TSC1):c.568C>T (p.Arg190Cys) rs118203400
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>G (p.Leu191Arg) rs118203403
NM_000368.4(TSC1):c.575del (p.Tyr192fs) rs118203405
NM_000368.4(TSC1):c.576T>G (p.Tyr192Ter) rs118203406
NM_000368.4(TSC1):c.585C>A (p.Tyr195Ter) rs118203407
NM_000368.4(TSC1):c.590dup (p.Cys197fs) rs397514868
NM_000368.4(TSC1):c.591dup (p.Asn198fs) rs397514836
NM_000368.4(TSC1):c.593_595del (p.Asn198_Phe199delinsIle) rs118203408
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.602_604del (p.Ser201del) rs118203412
NM_000368.4(TSC1):c.607_608dup (p.Leu203fs) rs118203413
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.624del (p.Ser208fs) rs397514837
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.654dup (p.Val219fs) rs118203418
NM_000368.4(TSC1):c.658G>T (p.Val220Phe) rs397514830
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+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.665del (p.Pro222fs) rs118203425
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.694G>T (p.Glu232Ter) rs118203429
NM_000368.4(TSC1):c.694del (p.Glu232fs) rs118203428
NM_000368.4(TSC1):c.709dup (p.Ser237fs) rs118203430
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.732del (p.Arg245fs) rs118203433
NM_000368.4(TSC1):c.733C>T (p.Arg245Ter) rs118203434
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+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.738-20A>G rs397514824
NM_000368.4(TSC1):c.738-2A>G rs118203440
NM_000368.4(TSC1):c.738-36_747del rs397514839
NM_000368.4(TSC1):c.738G>A (p.Arg246=) rs118203441
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>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.771del (p.Ile257fs) rs118203449
NM_000368.4(TSC1):c.772G>T (p.Glu258Ter) rs118203450
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.814G>T (p.Glu272Ter) rs397514872
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.829_830GT[1] (p.His279fs) rs118203455
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.845C>A (p.Ser282Ter) rs118203459
NM_000368.4(TSC1):c.846dup (p.Ala283fs) rs118203460
NM_000368.4(TSC1):c.853T>G (p.Phe285Val) rs377076733
NM_000368.4(TSC1):c.866C>G (p.Ser289Ter) rs397514867
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.901C>T (p.Gln301Ter) rs118203463
NM_000368.4(TSC1):c.901_913+1del rs118203465
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.913G>A (p.Gly305Arg) rs118203468
NM_000368.4(TSC1):c.913G>T (p.Gly305Trp) rs118203468
NM_000368.4(TSC1):c.914-18T>C rs118203471
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.921T>C (p.Ala307=) rs397514826
NM_000368.4(TSC1):c.936C>A (p.Tyr312Ter) rs118203472
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
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.983dup (p.Thr329fs) rs118203475
NM_000368.4(TSC1):c.986_987CT[1] (p.Leu330fs) rs118203477
NM_000368.4(TSC1):c.988dup (p.Leu330fs) rs118203476
NM_000368.4(TSC1):c.989_990del (p.Leu330fs) rs118203479
NM_000368.4(TSC1):c.989del (p.Leu330fs) rs397514870
NM_000368.4(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000368.4(TSC1):c.994_995insA (p.Ser332fs) rs118203480
TSC1:c.1142-22_1142-21del rs118203500
p.(=)

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