ClinVar Miner

List of variants in gene TSC1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 394
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter) rs747602915 0.00002
NC_000009.11:g.(?_135771184)_(135781738_?)del
NC_000009.11:g.(?_135771622)_(135773017_?)del
NC_000009.11:g.(?_135771622)_(135820530_?)del
NC_000009.11:g.(?_135775735)_(135820530_?)del
NC_000009.11:g.(?_135776102)_(135787844_?)dup
NC_000009.11:g.(?_135777972)_(135782777_?)del
NC_000009.11:g.(?_135782098)_(135796843_?)del
NC_000009.11:g.(?_135798715)_(135798899_?)del
NC_000009.11:g.(?_135802568)_(135804339_?)del
NC_000009.12:g.(?_132896215)_(132900857_?)del
NC_000009.12:g.(?_132896215)_(132904474_?)del
NC_000009.12:g.(?_132896215)_(132928892_?)del
NC_000009.12:g.(?_132896229)_(132928878_?)del
NC_000009.12:g.(?_132897164)_(132897630_?)del
NC_000009.12:g.(?_132900348)_(132921993_?)del
NC_000009.12:g.(?_132910551)_(132912477_?)del
NC_000009.12:g.(?_132910551)_(132928892_?)del
NC_000009.12:g.(?_132921343)_(132921993_?)del
NC_000009.12:g.(?_132927181)_(132927324_?)del
NC_000009.12:g.(?_132944543)_(132945143_?)del
NM_000368.4(TSC1):c.1030delG rs118203486
NM_000368.4(TSC1):c.2006_2007insTTTAGGTTGCCTTT
NM_000368.5(TSC1):c.1001C>A (p.Ser334Ter) rs118203481
NM_000368.5(TSC1):c.1006del (p.Arg336fs)
NM_000368.5(TSC1):c.1015dup (p.Thr339fs)
NM_000368.5(TSC1):c.1027C>T (p.Gln343Ter) rs2131972870
NM_000368.5(TSC1):c.1029+1G>A rs118203485
NM_000368.5(TSC1):c.1029+1G>C rs118203485
NM_000368.5(TSC1):c.1030-2A>G rs2131965369
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter) rs118203491
NM_000368.5(TSC1):c.1047del (p.Ser350fs) rs2131963896
NM_000368.5(TSC1):c.1057dup (p.Cys353fs) rs1845932297
NM_000368.5(TSC1):c.1073del (p.Pro358fs) rs1554817259
NM_000368.5(TSC1):c.1096_1109del (p.Pro366fs) rs118203494
NM_000368.5(TSC1):c.10C>T (p.Gln4Ter) rs753838459
NM_000368.5(TSC1):c.1119C>G (p.Tyr373Ter)
NM_000368.5(TSC1):c.1119_1123del (p.Tyr373_Lys375delinsTer) rs1588322764
NM_000368.5(TSC1):c.1130_1131del (p.Phe377fs) rs1554817222
NM_000368.5(TSC1):c.1162_1163del (p.Leu388fs) rs1064793844
NM_000368.5(TSC1):c.116del (p.Pro39fs)
NM_000368.5(TSC1):c.1172del (p.Pro391fs) rs2131945572
NM_000368.5(TSC1):c.1192del (p.Ala398fs) rs2131943928
NM_000368.5(TSC1):c.1200_1201del (p.Cys401fs) rs1554817140
NM_000368.5(TSC1):c.1201del (p.Cys401fs) rs2131943046
NM_000368.5(TSC1):c.1208C>A (p.Ser403Ter) rs118203504
NM_000368.5(TSC1):c.1228del (p.Ser410fs) rs1845899274
NM_000368.5(TSC1):c.1257del (p.Arg420fs) rs118203506
NM_000368.5(TSC1):c.1257dup (p.Arg420fs)
NM_000368.5(TSC1):c.1270A>T (p.Arg424Ter)
NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs) rs118203509
NM_000368.5(TSC1):c.1279del (p.Ser427fs) rs118203510
NM_000368.5(TSC1):c.1285_1298del (p.Arg429fs) rs2131880971
NM_000368.5(TSC1):c.1301dup (p.Gln435fs) rs1554816394
NM_000368.5(TSC1):c.1326_1327del (p.Gly443fs) rs1064795285
NM_000368.5(TSC1):c.1336G>T (p.Glu446Ter) rs1845700817
NM_000368.5(TSC1):c.1344del (p.Gly449fs)
NM_000368.5(TSC1):c.1367dup (p.Ser457fs) rs1554816245
NM_000368.5(TSC1):c.1369del (p.Ser457fs) rs118203523
NM_000368.5(TSC1):c.1379del (p.Pro460fs) rs118203525
NM_000368.5(TSC1):c.1382_1385del (p.Gly461fs) rs2131865150
NM_000368.5(TSC1):c.1388dup (p.Leu463fs) rs1064796237
NM_000368.5(TSC1):c.139del (p.Asp47fs) rs2132269239
NM_000368.5(TSC1):c.140_146del (p.Asp47fs)
NM_000368.5(TSC1):c.1412del (p.Asp471fs) rs2131863156
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) rs118203527
NM_000368.5(TSC1):c.1432G>T (p.Glu478Ter) rs1393065957
NM_000368.5(TSC1):c.1446_1447del (p.Ile482_Ser483insTer) rs1554816076
NM_000368.5(TSC1):c.144T>G (p.Tyr48Ter)
NM_000368.5(TSC1):c.1450A>T (p.Arg484Ter) rs2131850310
NM_000368.5(TSC1):c.1453G>T (p.Glu485Ter) rs1564482622
NM_000368.5(TSC1):c.146del (p.Tyr49fs) rs397514861
NM_000368.5(TSC1):c.147C>G (p.Tyr49Ter) rs2132268804
NM_000368.5(TSC1):c.147_157del (p.Tyr49_Ser53delinsTer)
NM_000368.5(TSC1):c.1480del (p.Ala494fs)
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.5(TSC1):c.1518del (p.Tyr508fs) rs1060503210
NM_000368.5(TSC1):c.1524C>G (p.Tyr508Ter)
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1530_1531del (p.Asp510fs) rs118203544
NM_000368.5(TSC1):c.1535_1536dup (p.Pro513fs)
NM_000368.5(TSC1):c.1538_1997+108del
NM_000368.5(TSC1):c.1541_1549delinsTG (p.Gly514fs) rs1564482288
NM_000368.5(TSC1):c.1546C>T (p.Gln516Ter) rs1588310754
NM_000368.5(TSC1):c.1548del (p.Gln516fs)
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs) rs118203550
NM_000368.5(TSC1):c.1598del (p.Pro533fs)
NM_000368.5(TSC1):c.1601_1602del (p.Glu534fs)
NM_000368.5(TSC1):c.1607T>A (p.Leu536Ter)
NM_000368.5(TSC1):c.1607_1616del (p.Leu536fs)
NM_000368.5(TSC1):c.1610_1611del (p.His537fs)
NM_000368.5(TSC1):c.161del (p.Ser54fs)
NM_000368.5(TSC1):c.1624A>T (p.Lys542Ter) rs1845641716
NM_000368.5(TSC1):c.163C>T (p.Gln55Ter) rs118203343
NM_000368.5(TSC1):c.1648C>T (p.Gln550Ter)
NM_000368.5(TSC1):c.1654_1655delinsCCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTACAAAGTC (p.Phe552fs)
NM_000368.5(TSC1):c.1674del (p.Cys559fs)
NM_000368.5(TSC1):c.1677C>A (p.Cys559Ter) rs368317116
NM_000368.5(TSC1):c.1679dup (p.Ser561fs) rs2131833003
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs) rs118203557
NM_000368.5(TSC1):c.1680_1702dup (p.Gly568fs) rs118203557
NM_000368.5(TSC1):c.1690G>T (p.Glu564Ter)
NM_000368.5(TSC1):c.1692_1693dup (p.Ser565fs) rs118203562
NM_000368.5(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs) rs118203564
NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs) rs1588309702
NM_000368.5(TSC1):c.1726_1727del (p.Leu576fs) rs886041684
NM_000368.5(TSC1):c.1749del (p.Ser584fs) rs2131827015
NM_000368.5(TSC1):c.1758del (p.Pro585_Cys586insTer) rs1554815856
NM_000368.5(TSC1):c.1772dup (p.Thr592fs)
NM_000368.5(TSC1):c.1781del (p.Val594fs) rs1554815829
NM_000368.5(TSC1):c.1792_1804dup (p.Pro602fs)
NM_000368.5(TSC1):c.1797del (p.Gln600fs) rs2131823012
NM_000368.5(TSC1):c.17del (p.Asn6fs) rs2132297010
NM_000368.5(TSC1):c.181del (p.Ile60_Leu61insTer) rs2132266748
NM_000368.5(TSC1):c.181dup (p.Leu61fs) rs2132266748
NM_000368.5(TSC1):c.1825G>T (p.Glu609Ter) rs118203587
NM_000368.5(TSC1):c.182T>C (p.Leu61Pro) rs118203345
NM_000368.5(TSC1):c.1849_1852dup (p.His618fs) rs2131818738
NM_000368.5(TSC1):c.1849del (p.His617fs) rs1564481122
NM_000368.5(TSC1):c.1858_1859del (p.Val620fs) rs1845617102
NM_000368.5(TSC1):c.1872dup (p.Glu625Ter) rs2131817146
NM_000368.5(TSC1):c.1873_1876dup (p.Glu626fs) rs2131816800
NM_000368.5(TSC1):c.1876G>T (p.Glu626Ter) rs397514815
NM_000368.5(TSC1):c.1888A>T (p.Lys630Ter) rs1158059433
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
NM_000368.5(TSC1):c.1896del (p.Gly633fs) rs1564480935
NM_000368.5(TSC1):c.1898del (p.Gly633fs) rs2131814973
NM_000368.5(TSC1):c.1899_1900insTATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAGCAAAAGGA (p.Asn634fs)
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs) rs118203597
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs) rs118203599
NM_000368.5(TSC1):c.1914del (p.Asp638fs)
NM_000368.5(TSC1):c.1918dup (p.Val640fs) rs2131813354
NM_000368.5(TSC1):c.191T>A (p.Leu64Ter) rs1846916239
NM_000368.5(TSC1):c.1929del (p.Ser644fs) rs2131812351
NM_000368.5(TSC1):c.1936dup (p.Met646fs) rs2131811653
NM_000368.5(TSC1):c.1939G>T (p.Glu647Ter) rs1171512070
NM_000368.5(TSC1):c.193C>T (p.Gln65Ter) rs1846915941
NM_000368.5(TSC1):c.1944dup (p.Leu649fs) rs2131811032
NM_000368.5(TSC1):c.1951del (p.Arg651fs)
NM_000368.5(TSC1):c.1956_1960delinsTCAGGG (p.Ile653fs) rs1845607838
NM_000368.5(TSC1):c.1959dup (p.Gln654fs) rs118203603
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.5(TSC1):c.1961_1974del (p.Gln654fs)
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter) rs118203606
NM_000368.5(TSC1):c.1966G>T (p.Gly656Ter) rs2131809131
NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter) rs886041538
NM_000368.5(TSC1):c.1997+1G>A rs118203610
NM_000368.5(TSC1):c.1997+2T>G rs2131806725
NM_000368.5(TSC1):c.1998-1G>C rs118203614
NM_000368.5(TSC1):c.1998-1G>T rs118203614
NM_000368.5(TSC1):c.1998-2A>C rs1057518217
NM_000368.5(TSC1):c.1998-2A>G rs1057518217
NM_000368.5(TSC1):c.2000dup (p.Leu667fs)
NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter) rs118203617
NM_000368.5(TSC1):c.2022del (p.Asp675fs) rs118203619
NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter) rs1554815454
NM_000368.5(TSC1):c.2033del (p.His678fs) rs2131786544
NM_000368.5(TSC1):c.2039_2041+1del rs2131785934
NM_000368.5(TSC1):c.2039del (p.Gly680fs) rs2131786241
NM_000368.5(TSC1):c.2046_2050del (p.Pro683fs) rs2131774414
NM_000368.5(TSC1):c.2063_2078del (p.Ile688fs)
NM_000368.5(TSC1):c.2065dup (p.Arg689fs) rs2131773288
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2077_2078dup (p.Asp693fs)
NM_000368.5(TSC1):c.2078_2082del (p.Asp693fs)
NM_000368.5(TSC1):c.2081del (p.Gln694fs)
NM_000368.5(TSC1):c.2090del (p.Leu697fs) rs118203633
NM_000368.5(TSC1):c.210+1G>T
NM_000368.5(TSC1):c.2103_2106dup (p.Leu703fs) rs118203638
NM_000368.5(TSC1):c.2105_2106insCT (p.Leu702fs) rs1564478705
NM_000368.5(TSC1):c.2105_2108dup (p.Tyr704fs)
NM_000368.5(TSC1):c.2106dup (p.Leu703fs) rs397514838
NM_000368.5(TSC1):c.211-1G>A rs118203353
NM_000368.5(TSC1):c.211-1G>T rs118203353
NM_000368.5(TSC1):c.211-2A>C rs118203352
NM_000368.5(TSC1):c.211-2A>G
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer) rs118203645
NM_000368.5(TSC1):c.2112T>G (p.Tyr704Ter) rs118203646
NM_000368.5(TSC1):c.2112_2125del (p.Tyr704_Arg709delinsTer)
NM_000368.5(TSC1):c.2122A>T (p.Lys708Ter)
NM_000368.5(TSC1):c.2123dup (p.Arg709fs)
NM_000368.5(TSC1):c.2130dup (p.Gln711fs) rs2131765460
NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter) rs118203647
NM_000368.5(TSC1):c.2140del (p.Leu714fs)
NM_000368.5(TSC1):c.2140dup (p.Leu714fs)
NM_000368.5(TSC1):c.2141del (p.Leu714fs) rs2131764067
NM_000368.5(TSC1):c.2145del (p.Asn716fs) rs118203650
NM_000368.5(TSC1):c.2159del (p.Leu720fs) rs1845497321
NM_000368.5(TSC1):c.2165del (p.Lys722fs) rs1060503213
NM_000368.5(TSC1):c.2167del (p.Lys722_Val723insTer) rs2131760465
NM_000368.5(TSC1):c.2177_2180dup (p.Ala728fs) rs1554815246
NM_000368.5(TSC1):c.218T>A (p.Leu73Ter) rs1846822085
NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter) rs397514820
NM_000368.5(TSC1):c.2212_2213dup (p.Asp738fs) rs2131741904
NM_000368.5(TSC1):c.2213_2214insGACCAGTCTTTTGTAAC (p.Asp738delinsGluThrSerLeuLeuTer)
NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter) rs1554815054
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter) rs118203661
NM_000368.5(TSC1):c.2231_2235del (p.Glu744fs) rs1554815049
NM_000368.5(TSC1):c.2239dup (p.Ile747fs)
NM_000368.5(TSC1):c.2241_2242del (p.Gln748fs) rs2131739882
NM_000368.5(TSC1):c.2242C>T (p.Gln748Ter) rs1588301951
NM_000368.5(TSC1):c.2248_2249dup (p.Trp750fs) rs1845453970
NM_000368.5(TSC1):c.2250G>A (p.Trp750Ter) rs118203663
NM_000368.5(TSC1):c.225del (p.Ile76fs)
NM_000368.5(TSC1):c.2263C>T (p.Gln755Ter) rs1845452711
NM_000368.5(TSC1):c.2265_2266del (p.Lys756fs)
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter) rs118203668
NM_000368.5(TSC1):c.2285del (p.Asn762fs)
NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter) rs118203671
NM_000368.5(TSC1):c.228_235del (p.Asn77fs)
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter) rs118203673
NM_000368.5(TSC1):c.2304dup (p.Asp769Ter) rs2131734694
NM_000368.5(TSC1):c.2314del (p.Met771_Val772insTer)
NM_000368.5(TSC1):c.232G>T (p.Glu78Ter) rs1588355838
NM_000368.5(TSC1):c.2338A>T (p.Arg780Ter) rs1564477162
NM_000368.5(TSC1):c.2340_2343del (p.Arg780fs) rs1588301374
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter) rs118203680
NM_000368.5(TSC1):c.2341_2360dup (p.Glu787fs) rs1554814935
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter) rs118203681
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.2356del (p.Arg786fs)
NM_000368.5(TSC1):c.2360del (p.Glu787fs) rs1588301269
NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter) rs118203685
NM_000368.5(TSC1):c.2380C>T (p.Gln794Ter) rs781371665
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.5(TSC1):c.238del (p.Val80fs)
NM_000368.5(TSC1):c.2419_2420dup (p.Ala808fs)
NM_000368.5(TSC1):c.2463_2466del (p.Cys822fs)
NM_000368.5(TSC1):c.2470_2471del (p.His823_Thr824insTer) rs118203697
NM_000368.5(TSC1):c.2470_2479del (p.Thr824fs)
NM_000368.5(TSC1):c.2474_2478del (p.Glu825fs)
NM_000368.5(TSC1):c.2477_2480dup (p.Leu828fs) rs2131704033
NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter) rs1564475884
NM_000368.5(TSC1):c.24_42delinsCAA (p.Glu9fs) rs1554821022
NM_000368.5(TSC1):c.2503-1G>A
NM_000368.5(TSC1):c.2503-1G>C rs118203705
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter) rs118203706
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.5(TSC1):c.2510dup (p.Asn837fs) rs118203709
NM_000368.5(TSC1):c.2515_2518del (p.Glu839fs) rs794727320
NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter) rs1447417010
NM_000368.5(TSC1):c.2545_2566del (p.Asn849fs) rs1564474974
NM_000368.5(TSC1):c.2547del (p.Asn849fs) rs2131687967
NM_000368.5(TSC1):c.2548_2554del (p.Arg850fs)
NM_000368.5(TSC1):c.2551C>T (p.Gln851Ter) rs1588297391
NM_000368.5(TSC1):c.2556del (p.Leu853fs) rs2131687509
NM_000368.5(TSC1):c.2578G>T (p.Glu860Ter)
NM_000368.5(TSC1):c.2588del (p.Leu863fs)
NM_000368.5(TSC1):c.2590G>T (p.Glu864Ter) rs1845328711
NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter) rs886039662
NM_000368.5(TSC1):c.2599C>T (p.Gln867Ter) rs2131685383
NM_000368.5(TSC1):c.2605A>T (p.Lys869Ter) rs1845327789
NM_000368.5(TSC1):c.260T>G (p.Leu87Ter) rs397514776
NM_000368.5(TSC1):c.2612C>G (p.Ser871Ter) rs1166302175
NM_000368.5(TSC1):c.261dup (p.Ser88fs) rs1588355628
NM_000368.5(TSC1):c.2625+367A>G rs1564474542
NM_000368.5(TSC1):c.2626-2A>G rs118203717
NM_000368.5(TSC1):c.2635del (p.Glu878_Met879insTer) rs2131639772
NM_000368.5(TSC1):c.2635dup (p.Met879fs)
NM_000368.5(TSC1):c.2641A>T (p.Lys881Ter) rs1057520444
NM_000368.5(TSC1):c.2649del (p.Tyr884fs)
NM_000368.5(TSC1):c.2652_2664del (p.Ala883_Tyr884insTer)
NM_000368.5(TSC1):c.2671_2672dup (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2672del (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2672dup (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2674A>T (p.Arg892Ter) rs2131637455
NM_000368.5(TSC1):c.2674del (p.Arg892fs) rs2131637518
NM_000368.5(TSC1):c.2680del (p.His894fs)
NM_000368.5(TSC1):c.2681dup (p.His894fs)
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
NM_000368.5(TSC1):c.2715_2716dup (p.Gln906fs) rs1588290658
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.5(TSC1):c.271_272del (p.Ser91fs) rs118203360
NM_000368.5(TSC1):c.271del (p.Ser91fs) rs1588355566
NM_000368.5(TSC1):c.2721del (p.Lys907fs) rs1588290641
NM_000368.5(TSC1):c.2743_2747del (p.His915fs) rs2131633443
NM_000368.5(TSC1):c.2744dup (p.His915fs)
NM_000368.5(TSC1):c.275T>G (p.Leu92Ter) rs2132234958
NM_000368.5(TSC1):c.2771_2772insTTTTTATTTTTTATTTTTTTTTTTTTTATTTTTTTTTTAAAGGTAACATTCATCAGTAGCGCAGGTTGTTTTTGTATTGGGGGGTAAATCCTCAAGTCAAGCTCGACAGAANNNNNNNNNNTCTCGCTCTCGTGTCCTCGGTAGACGCCGTGTTGGGCCTCCCACAGTGCTGGGATTACTGGCGTGCGCCAGCGCGCCCGGCCGAAAGACCACCTTCTTTT (p.Leu924delinsPhePheTyrPheLeuPhePhePhePheLeuPhePhePheTer)
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter) rs397514879
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter) rs118203735
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000368.5(TSC1):c.2851C>T (p.Gln951Ter)
NM_000368.5(TSC1):c.290_291del (p.Ile97fs)
NM_000368.5(TSC1):c.2913del (p.Asp972fs)
NM_000368.5(TSC1):c.296_297del (p.Leu99fs)
NM_000368.5(TSC1):c.298C>T (p.Gln100Ter) rs1846813509
NM_000368.5(TSC1):c.308G>A (p.Trp103Ter) rs118203364
NM_000368.5(TSC1):c.309G>A (p.Trp103Ter) rs118203365
NM_000368.5(TSC1):c.325C>T (p.Gln109Ter) rs397514774
NM_000368.5(TSC1):c.337_338del (p.Leu113fs) rs118203367
NM_000368.5(TSC1):c.339del (p.Leu113fs)
NM_000368.5(TSC1):c.343del (p.Ser115fs) rs2132230601
NM_000368.5(TSC1):c.344del (p.Ser115fs) rs2132230501
NM_000368.5(TSC1):c.354del (p.Lys118fs)
NM_000368.5(TSC1):c.360_361insGGCAGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAATGTCTC (p.Lys121fs)
NM_000368.5(TSC1):c.360_361insSVAelement
NM_000368.5(TSC1):c.363+1G>T rs118203372
NM_000368.5(TSC1):c.363G>C (p.Lys121Asn) rs118203370
NM_000368.5(TSC1):c.364-1G>A
NM_000368.5(TSC1):c.364-1G>C rs118203376
NM_000368.5(TSC1):c.364-1G>T rs118203376
NM_000368.5(TSC1):c.364-2A>G rs1846685279
NM_000368.5(TSC1):c.393_405del (p.Thr131_Gly132insTer) rs2132191644
NM_000368.5(TSC1):c.395_406delinsCA (p.Gly132fs) rs118203380
NM_000368.5(TSC1):c.397_406del (p.Gly132_Val133insTer) rs2132191512
NM_000368.5(TSC1):c.398dup (p.Val135fs) rs2132191990
NM_000368.5(TSC1):c.400_412dup (p.Thr138fs)
NM_000368.5(TSC1):c.406_418delinsGT (p.Leu136fs) rs1846678053
NM_000368.5(TSC1):c.421_422insTCTAC (p.Pro141fs)
NM_000368.5(TSC1):c.433C>T (p.Gln145Ter) rs118203382
NM_000368.5(TSC1):c.43del (p.Asp15fs)
NM_000368.5(TSC1):c.442A>T (p.Lys148Ter) rs2132189676
NM_000368.5(TSC1):c.445C>T (p.Gln149Ter) rs118203384
NM_000368.5(TSC1):c.482T>C (p.Leu161Pro) rs1846672141
NM_000368.5(TSC1):c.486del (p.Ser163fs) rs2132187252
NM_000368.5(TSC1):c.488C>G (p.Ser163Ter)
NM_000368.5(TSC1):c.507del (p.Gly170fs) rs1846669447
NM_000368.5(TSC1):c.508+1G>C rs118203390
NM_000368.5(TSC1):c.508+2T>C rs2132185885
NM_000368.5(TSC1):c.513_514insT (p.Val172fs)
NM_000368.5(TSC1):c.526del (p.Tyr176fs) rs2132161209
NM_000368.5(TSC1):c.526dup (p.Tyr176fs) rs2132161155
NM_000368.5(TSC1):c.555C>A (p.Tyr185Ter) rs118203398
NM_000368.5(TSC1):c.555C>G (p.Tyr185Ter) rs118203398
NM_000368.5(TSC1):c.558_559dup (p.Leu187fs)
NM_000368.5(TSC1):c.561_562del (p.Phe188fs)
NM_000368.5(TSC1):c.561_562dup (p.Phe188fs) rs2132157980
NM_000368.5(TSC1):c.564del (p.His189fs)
NM_000368.5(TSC1):c.574del (p.Tyr192fs) rs1846585365
NM_000368.5(TSC1):c.582_583dup (p.Tyr195fs) rs2132156045
NM_000368.5(TSC1):c.587del (p.Pro196fs) rs796053464
NM_000368.5(TSC1):c.599dup (p.Ser201fs) rs118203411
NM_000368.5(TSC1):c.59del (p.Gly20fs)
NM_000368.5(TSC1):c.608del (p.Leu203fs)
NM_000368.5(TSC1):c.647T>C (p.Phe216Ser) rs118203416
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer) rs118203417
NM_000368.5(TSC1):c.648_649insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACCTGGAGACTTTT (p.Glu217delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_000368.5(TSC1):c.648del (p.Phe216fs) rs118203417
NM_000368.5(TSC1):c.664-15A>G rs118203422
NM_000368.5(TSC1):c.673G>T (p.Glu225Ter)
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.5(TSC1):c.694G>T (p.Glu232Ter) rs118203429
NM_000368.5(TSC1):c.698T>G (p.Leu233Ter) rs1846545578
NM_000368.5(TSC1):c.721G>T (p.Glu241Ter) rs2132134052
NM_000368.5(TSC1):c.731del (p.Pro244fs) rs1846543630
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.734dup (p.Arg246fs) rs1588345595
NM_000368.5(TSC1):c.737+1G>A rs118203438
NM_000368.5(TSC1):c.737+2T>C rs1564497308
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.5(TSC1):c.738-1G>A rs1564490210
NM_000368.5(TSC1):c.738-1G>C rs1564490210
NM_000368.5(TSC1):c.738-2A>G rs118203440
NM_000368.5(TSC1):c.738-2A>T rs118203440
NM_000368.5(TSC1):c.740G>A (p.Trp247Ter) rs1846020610
NM_000368.5(TSC1):c.749T>A (p.Leu250Ter) rs118203447
NM_000368.5(TSC1):c.74dup (p.Thr26fs) rs886041959
NM_000368.5(TSC1):c.751G>T (p.Glu251Ter) rs1554817691
NM_000368.5(TSC1):c.773_774insTA (p.Glu258fs) rs2132004661
NM_000368.5(TSC1):c.798del (p.Thr267fs)
NM_000368.5(TSC1):c.809C>G (p.Ser270Ter)
NM_000368.5(TSC1):c.812_813del (p.Ser270_Tyr271insTer) rs118203451
NM_000368.5(TSC1):c.813T>G (p.Tyr271Ter) rs118203452
NM_000368.5(TSC1):c.817_824del (p.Asp273fs)
NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter) rs118203454
NM_000368.5(TSC1):c.831del (p.Ser278fs) rs1846011821
NM_000368.5(TSC1):c.846del (p.Ala283fs) rs1846010451
NM_000368.5(TSC1):c.850dup (p.Arg284fs) rs1554817612
NM_000368.5(TSC1):c.857del (p.Pro286fs)
NM_000368.5(TSC1):c.86_90dup (p.Glu31fs) rs1564504869
NM_000368.5(TSC1):c.871_886dup (p.Pro296fs) rs1588326629
NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter) rs118203461
NM_000368.5(TSC1):c.891del (p.Pro296_Tyr297insTer) rs1846004910
NM_000368.5(TSC1):c.901C>T (p.Gln301Ter) rs118203463
NM_000368.5(TSC1):c.901_902del (p.Gln301fs) rs118203464
NM_000368.5(TSC1):c.913+1G>A rs118203470
NM_000368.5(TSC1):c.913+1G>T rs118203470
NM_000368.5(TSC1):c.913+2T>A
NM_000368.5(TSC1):c.913+2T>G
NM_000368.5(TSC1):c.92del (p.Glu31fs)
NM_000368.5(TSC1):c.932del (p.Pro311fs)
NM_000368.5(TSC1):c.945dup (p.Arg316fs) rs2131980428
NM_000368.5(TSC1):c.965_978del (p.Met322fs) rs1588324435
NM_000368.5(TSC1):c.978_988del (p.Pro327fs)
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter) rs1554817388
NM_000368.5(TSC1):c.988_989insGA (p.Leu330fs) rs1564488810
NM_000368.5(TSC1):c.989_990del (p.Leu330fs) rs118203479
NM_000368.5(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000368.5(TSC1):c.997_998del (p.Pro333fs) rs1564488773

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