ClinVar Miner

List of variants in gene TSC2 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1037
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter) rs45517340 0.00003
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile) rs745895675 0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
GRCh37/hg19 16p13.3(chr16:2098168-2100457)x1
GRCh37/hg19 16p13.3(chr16:2114273-2122984)x1
NC_000016.10:g.(?_2048587)_(2065635_?)del
NC_000016.10:g.(?_2048596)_(2048773_?)del
NC_000016.10:g.(?_2048596)_(2074415_?)del
NC_000016.10:g.(?_2048610)_(2088616_?)del
NC_000016.10:g.(?_2050390)_(2050496_?)del
NC_000016.10:g.(?_2053322)_(2057459_?)del
NC_000016.10:g.(?_2053342)_(2060813_?)del
NC_000016.10:g.(?_2056176)_(2064447_?)del
NC_000016.10:g.(?_2056176)_(2074415_?)del
NC_000016.10:g.(?_2070436)_(2080397_?)dup
NC_000016.10:g.(?_2081589)_(2088616_?)del
NC_000016.10:g.2056989_2074645del
NC_000016.10:g.2072241_2072247dup rs2151315345
NC_000016.10:g.2074199_2088611dup
NC_000016.10:g.2077825_2088543del
NC_000016.9:g.(?_2025180)_2130380del
NC_000016.9:g.(?_2097990)_(2138611_?)del
NC_000016.9:g.(?_2098597)_(2103473_?)del
NC_000016.9:g.(?_2098597)_(2108894_?)del
NC_000016.9:g.(?_2098597)_(2130398_?)del
NC_000016.9:g.(?_2098645)_(2130379_2131595)del
NC_000016.9:g.(?_2100381)_(2100507_?)del
NC_000016.9:g.(?_2100381)_(2115656_?)dup
NC_000016.9:g.(?_2103323)_(2115656_?)del
NC_000016.9:g.(?_2103337)_(2110820_?)del
NC_000016.9:g.(?_2105383)_(2124410_?)del
NC_000016.9:g.(?_2106344)_(2107114_?)del
NC_000016.9:g.(?_2108728)_(2108894_?)del
NC_000016.9:g.(?_2108728)_(2120599_?)del
NC_000016.9:g.(?_2110149)_(2112548_?)del
NC_000016.9:g.(?_2110651)_(2115656_?)dup
NC_000016.9:g.(?_2110651)_(2135343_?)dup
NC_000016.9:g.(?_2112478)_(2115656_?)del
NC_000016.9:g.(?_2112953)_(2113074_?)del
NC_000016.9:g.(?_2115510)_(2115646_?)del
NC_000016.9:g.(?_2120437)_(2123004_?)del
NC_000016.9:g.(?_2122222)_(2127477_?)del
NC_000016.9:g.(?_2124181)_(2135047_?)dup
NC_000016.9:g.(?_2124181)_(2138611_?)del
NC_000016.9:g.(?_2127477)_(2135343_?)del
NC_000016.9:g.(?_2127829)_(2134379_?)del
NC_000016.9:g.(?_2129819)_(2134377_?)del
NC_000016.9:g.(?_2134223)_(2136878_?)del
NC_000016.9:g.(?_2134307)_(2137196_?)del
NC_000016.9:g.(?_2137518)_(2138586_?)del
NM_000548.3(TSC2):c.1600-?_1716+?del
NM_000548.3(TSC2):c.1948delG rs1596343922
NM_000548.5(TSC2):c.1047dup (p.Arg350Ter) rs1555500535
NM_000548.5(TSC2):c.104_108dup (p.Glu37fs)
NM_000548.5(TSC2):c.1051_1052insGGCCGGGCGCGGTGGCTCGCGCCTGTAGTCCCAGCTCTTAGGGAGGCCGAGGCAGGAGGATCTAGAGTACAGGAGAACCGGAGCATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTATAGGA (p.Lys351delinsArgProGlyAlaValAlaArgAlaCysSerProSerSerTer)
NM_000548.5(TSC2):c.105_106del (p.Gln35fs) rs2084681207
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter) rs45469896
NM_000548.5(TSC2):c.1061_1068dup (p.Ala357fs)
NM_000548.5(TSC2):c.1074G>A (p.Trp358Ter) rs1229561585
NM_000548.5(TSC2):c.107_108insCTGGTAAAC (p.Thr36_Glu37insTrpTer)
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.109G>T (p.Glu37Ter)
NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter) rs1596298721
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter) rs45469099
NM_000548.5(TSC2):c.1119+129G>T rs1001221917
NM_000548.5(TSC2):c.1119+1G>C rs45475793
NM_000548.5(TSC2):c.1126_1135del (p.Asp376fs)
NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs) rs2086680808
NM_000548.5(TSC2):c.113_114dup (p.Ile39fs) rs137854355
NM_000548.5(TSC2):c.1145_1146del (p.Thr382fs) rs1567428094
NM_000548.5(TSC2):c.1149del (p.Ile383fs)
NM_000548.5(TSC2):c.114_115insC (p.Ile39fs) rs2084683129
NM_000548.5(TSC2):c.1160dup (p.Leu388fs) rs878854075
NM_000548.5(TSC2):c.116_123dup (p.Ala42fs)
NM_000548.5(TSC2):c.1177G>T (p.Glu393Ter) rs2086689358
NM_000548.5(TSC2):c.1189C>T (p.Gln397Ter)
NM_000548.5(TSC2):c.1194del (p.Asn398fs) rs886039736
NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter) rs773920155
NM_000548.5(TSC2):c.1206del (p.Ser403fs) rs2151155973
NM_000548.5(TSC2):c.120del (p.Thr41fs) rs397515085
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter) rs45457701
NM_000548.5(TSC2):c.1213G>T (p.Glu405Ter)
NM_000548.5(TSC2):c.1217_1218del (p.Arg406fs) rs2151156291
NM_000548.5(TSC2):c.1220_1240del (p.Tyr407_Arg413del) rs137853998
NM_000548.5(TSC2):c.1224del (p.Phe408fs)
NM_000548.5(TSC2):c.1226_1230del (p.Glu409fs) rs137854127
NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly) rs1057523509
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter) rs45517158
NM_000548.5(TSC2):c.1252_1253del (p.Arg418fs) rs2086699971
NM_000548.5(TSC2):c.1254del (p.Arg418fs)
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser) rs45517159
NM_000548.5(TSC2):c.1257+1G>A rs397515066
NM_000548.5(TSC2):c.1257+1G>C rs397515066
NM_000548.5(TSC2):c.1257+2T>C rs45509697
NM_000548.5(TSC2):c.1257+2T>G rs45509697
NM_000548.5(TSC2):c.1257dup (p.Glu420Ter)
NM_000548.5(TSC2):c.1258-2A>G rs45517160
NM_000548.5(TSC2):c.1258-96_1362del rs2151161634
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter) rs796053484
NM_000548.5(TSC2):c.1267_1270del (p.Ser422_Leu423insTer) rs2086765953
NM_000548.5(TSC2):c.1276del (p.Asn425_Leu426insTer) rs2086767947
NM_000548.5(TSC2):c.1282del (p.Ser428fs) rs1555501373
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1287T>A (p.Tyr429Ter) rs45493394
NM_000548.5(TSC2):c.1294C>T (p.Gln432Ter) rs1114167462
NM_000548.5(TSC2):c.131_132del (p.Ile44fs) rs1064793853
NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter) rs45515894
NM_000548.5(TSC2):c.1327C>T (p.Gln443Ter) rs2151164702
NM_000548.5(TSC2):c.132dup (p.Leu45fs) rs2150973810
NM_000548.5(TSC2):c.1334dup (p.Gln446fs) rs2086777094
NM_000548.5(TSC2):c.1337dup (p.Ala447fs) rs2039161082
NM_000548.5(TSC2):c.133_136del (p.Leu45fs) rs137854360
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_000548.5(TSC2):c.1348G>T (p.Glu450Ter) rs45491095
NM_000548.5(TSC2):c.134_138+1delinsC rs1057518535
NM_000548.5(TSC2):c.1352_1353del (p.Arg451fs) rs397515082
NM_000548.5(TSC2):c.1358_1359delinsAA (p.Phe453Ter) rs2151165414
NM_000548.5(TSC2):c.1358_1361+14del
NM_000548.5(TSC2):c.1361+1G>A rs45517164
NM_000548.5(TSC2):c.1361+1G>T rs45517164
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1362-1G>A
NM_000548.5(TSC2):c.1362-2A>G rs45517165
NM_000548.5(TSC2):c.136A>T (p.Arg46Ter) rs137854266
NM_000548.5(TSC2):c.136_138+1del rs137854117
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.138+2T>C rs137854226
NM_000548.5(TSC2):c.138+5G>A rs45481400
NM_000548.5(TSC2):c.138+5G>C rs45481400
NM_000548.5(TSC2):c.1380_1386del (p.Val461fs) rs2151171193
NM_000548.5(TSC2):c.1381del (p.Val461fs)
NM_000548.5(TSC2):c.1386dup (p.Ile463fs) rs1596307300
NM_000548.5(TSC2):c.1388dup (p.Lys464fs) rs2086826069
NM_000548.5(TSC2):c.138_138+1del rs137854117
NM_000548.5(TSC2):c.139-1G>A rs1567386603
NM_000548.5(TSC2):c.139-2A>G rs2084954667
NM_000548.5(TSC2):c.1399dup (p.Asp467fs)
NM_000548.5(TSC2):c.139G>T (p.Glu47Ter) rs1555495676
NM_000548.5(TSC2):c.13del (p.Thr5fs) rs2084669441
NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter) rs121964862
NM_000548.5(TSC2):c.1437_1438delinsG (p.Phe479fs)
NM_000548.5(TSC2):c.1439_1440del (p.Phe479_Tyr480insTer)
NM_000548.5(TSC2):c.1443+1G>A
NM_000548.5(TSC2):c.1443+1G>T rs397515257
NM_000548.5(TSC2):c.1443+2T>A rs397515064
NM_000548.5(TSC2):c.1443+2T>C
NM_000548.5(TSC2):c.1444-1G>A rs45515902
NM_000548.5(TSC2):c.1444-2A>G rs45517174
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) rs397515297
NM_000548.5(TSC2):c.1458del (p.Ser487fs) rs1567437155
NM_000548.5(TSC2):c.1470del (p.Ser491fs) rs2151188797
NM_000548.5(TSC2):c.1474C>T (p.Gln492Ter) rs1060500931
NM_000548.5(TSC2):c.1487del (p.Ile496fs) rs2087013746
NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter) rs45517178
NM_000548.5(TSC2):c.1502del (p.Asp501fs) rs1567437492
NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter) rs397514929
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1528C>T (p.Gln510Ter)
NM_000548.5(TSC2):c.1535_1557del (p.Leu512fs) rs796053503
NM_000548.5(TSC2):c.1549G>T (p.Glu517Ter) rs1555502518
NM_000548.5(TSC2):c.1563_1566del (p.His522fs)
NM_000548.5(TSC2):c.1563_1599+94del rs2087026946
NM_000548.5(TSC2):c.1563dup (p.His522fs) rs137854023
NM_000548.5(TSC2):c.1565_1566dup (p.His523fs) rs1555502530
NM_000548.5(TSC2):c.1582del (p.Leu528fs) rs1060499647
NM_000548.5(TSC2):c.1583dup (p.Asp529fs) rs2087032456
NM_000548.5(TSC2):c.1597_1599del (p.Lys533del) rs1596312554
NM_000548.5(TSC2):c.1599+1G>A rs45517182
NM_000548.5(TSC2):c.1599+2T>C rs45517183
NM_000548.5(TSC2):c.1599+2T>G
NM_000548.5(TSC2):c.1599+4A>C rs2151192256
NM_000548.5(TSC2):c.1599+5G>A rs397515100
NM_000548.5(TSC2):c.1600-1G>C
NM_000548.5(TSC2):c.1600-2A>G rs1114167466
NM_000548.5(TSC2):c.1609dup (p.Arg537fs) rs1555503131
NM_000548.5(TSC2):c.160_161delinsG (p.Leu54fs)
NM_000548.5(TSC2):c.1610_1617dup (p.Ser540fs) rs2087224465
NM_000548.5(TSC2):c.1610_1622del (p.Arg537fs) rs397515148
NM_000548.5(TSC2):c.1628del (p.Pro543fs) rs397515204
NM_000548.5(TSC2):c.1628dup (p.Glu544fs) rs397515204
NM_000548.5(TSC2):c.1636G>T (p.Glu546Ter) rs2087230941
NM_000548.5(TSC2):c.1659C>G (p.Tyr553Ter)
NM_000548.5(TSC2):c.1661C>A (p.Ser554Ter) rs45471596
NM_000548.5(TSC2):c.16dup (p.Ser6fs) rs2150970014
NM_000548.5(TSC2):c.1714C>T (p.Gln572Ter) rs2087242404
NM_000548.5(TSC2):c.1716+1G>A rs45517190
NM_000548.5(TSC2):c.1716+5G>C rs1596317714
NM_000548.5(TSC2):c.1717-12CT[2] rs769094940
NM_000548.5(TSC2):c.1717-1G>A rs45517192
NM_000548.5(TSC2):c.1717-2A>C rs1596335963
NM_000548.5(TSC2):c.1720A>T (p.Lys574Ter) rs2088115626
NM_000548.5(TSC2):c.1732dup (p.Leu578fs) rs2151278146
NM_000548.5(TSC2):c.1739_1740insT (p.Ser581fs) rs2088122285
NM_000548.5(TSC2):c.1741_1745dup (p.His582fs) rs2151278476
NM_000548.5(TSC2):c.1741_1839+182del
NM_000548.5(TSC2):c.1749_1753dup (p.Arg585fs) rs1567457100
NM_000548.5(TSC2):c.1753_1754del (p.Arg585fs)
NM_000548.5(TSC2):c.1758_1759del (p.Val586_Tyr587insTer) rs397515116
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer) rs137854371
NM_000548.5(TSC2):c.1761T>G (p.Tyr587Ter) rs753179817
NM_000548.5(TSC2):c.1762G>T (p.Glu588Ter) rs1596336374
NM_000548.5(TSC2):c.1764_1765del (p.Glu588fs) rs1555505103
NM_000548.5(TSC2):c.1768_1769delinsG (p.Leu590fs) rs1596336436
NM_000548.5(TSC2):c.1769_1776del (p.Leu590fs) rs2151279634
NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter) rs45517199
NM_000548.5(TSC2):c.1789C>T (p.His597Tyr) rs397515246
NM_000548.5(TSC2):c.1789dup (p.His597fs)
NM_000548.5(TSC2):c.1790A>G (p.His597Arg) rs137854322
NM_000548.5(TSC2):c.1791del (p.Tyr598fs)
NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys) rs45509791
NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter) rs45509094
NM_000548.5(TSC2):c.1806C>G (p.Tyr602Ter) rs367553206
NM_000548.5(TSC2):c.1817del (p.Ile606fs)
NM_000548.5(TSC2):c.1831C>G (p.Arg611Gly) rs45469298
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp) rs45469298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1839+1G>T rs45438400
NM_000548.5(TSC2):c.1839+2T>C rs1555505211
NM_000548.5(TSC2):c.1839G>C (p.Gln613His) rs1555505208
NM_000548.5(TSC2):c.1840-1G>A rs397514953
NM_000548.5(TSC2):c.1840-2_1841delinsTTTTGA rs1555505742
NM_000548.5(TSC2):c.1840G>C (p.Ala614Pro) rs397515199
NM_000548.5(TSC2):c.1841C>A (p.Ala614Asp) rs45454398
NM_000548.5(TSC2):c.1845del (p.Phe615fs) rs137854248
NM_000548.5(TSC2):c.1852del (p.Leu618fs)
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.1869del (p.Asp624fs)
NM_000548.5(TSC2):c.1875_1876del (p.Leu626fs) rs397515073
NM_000548.5(TSC2):c.1881_1882del (p.His627fs) rs2151297228
NM_000548.5(TSC2):c.1910_1931dup (p.Val645fs)
NM_000548.5(TSC2):c.1912_1924del (p.Val638fs)
NM_000548.5(TSC2):c.1929C>A (p.Tyr643Ter) rs368710573
NM_000548.5(TSC2):c.1929C>G (p.Tyr643Ter) rs368710573
NM_000548.5(TSC2):c.1930T>G (p.Cys644Gly) rs1567462577
NM_000548.5(TSC2):c.1932C>A (p.Cys644Ter)
NM_000548.5(TSC2):c.1938C>A (p.Cys646Ter) rs745414854
NM_000548.5(TSC2):c.1946+1G>A rs397514994
NM_000548.5(TSC2):c.1946+1G>T rs397514994
NM_000548.5(TSC2):c.1946+2T>A rs397515247
NM_000548.5(TSC2):c.1948G>T (p.Glu650Ter) rs2151303613
NM_000548.5(TSC2):c.1954G>T (p.Glu652Ter) rs1555505954
NM_000548.5(TSC2):c.1957A>T (p.Arg653Ter) rs764225717
NM_000548.5(TSC2):c.1959_1960del (p.Gly654fs) rs137854144
NM_000548.5(TSC2):c.1961del (p.Gly654fs)
NM_000548.5(TSC2):c.1981_2020del (p.Gly661fs) rs2088453139
NM_000548.5(TSC2):c.1987_1988del (p.Leu663fs) rs1596344279
NM_000548.5(TSC2):c.1987del (p.Leu663fs) rs137854310
NM_000548.5(TSC2):c.1990del (p.Ser664fs)
NM_000548.5(TSC2):c.2009del (p.Pro670fs) rs1060500934
NM_000548.5(TSC2):c.2015dup (p.Ala673fs)
NM_000548.5(TSC2):c.2021_2356-115delinsTAAGCACTTAGTCTCCT
NM_000548.5(TSC2):c.2024_2034del (p.Ala675fs) rs2151306395
NM_000548.5(TSC2):c.2046del (p.Ser683fs) rs397515287
NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs) rs137854337
NM_000548.5(TSC2):c.2057_2078dup (p.Gln695fs) rs2088476977
NM_000548.5(TSC2):c.2058C>A (p.Tyr686Ter) rs1186913814
NM_000548.5(TSC2):c.2067_2068del (p.Phe690fs) rs1064793524
NM_000548.5(TSC2):c.2071del (p.Arg691fs) rs137854071
NM_000548.5(TSC2):c.2083C>T (p.Gln695Ter) rs45517209
NM_000548.5(TSC2):c.2086_2089delinsCG (p.Cys696fs) rs1555506201
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.5(TSC2):c.208del (p.Thr70fs)
NM_000548.5(TSC2):c.2090dup (p.Leu697fs) rs137854189
NM_000548.5(TSC2):c.2095C>T (p.Gln699Ter) rs45517210
NM_000548.5(TSC2):c.2098-1G>A rs45517212
NM_000548.5(TSC2):c.2098-2A>G rs45501596
NM_000548.5(TSC2):c.2098-2A>T rs45501596
NM_000548.5(TSC2):c.2098G>T (p.Glu700Ter)
NM_000548.5(TSC2):c.20_21del (p.Lys7fs) rs137854019
NM_000548.5(TSC2):c.2102_2103del (p.Glu700_Ser701insTer) rs1555506395
NM_000548.5(TSC2):c.2105_2108del (p.Asp702fs) rs886041563
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter) rs45517213
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2113del (p.Val705fs) rs1555506428
NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg) rs45517214
NM_000548.5(TSC2):c.2157T>G (p.Tyr719Ter) rs902456479
NM_000548.5(TSC2):c.2158A>T (p.Lys720Ter) rs1195091149
NM_000548.5(TSC2):c.2160del (p.Val721fs) rs2151317705
NM_000548.5(TSC2):c.2166dup (p.Ile723fs) rs2151318037
NM_000548.5(TSC2):c.2172_2176del (p.Thr725fs) rs137854216
NM_000548.5(TSC2):c.2180del (p.Pro727fs) rs2088578781
NM_000548.5(TSC2):c.2180dup (p.Cys728fs)
NM_000548.5(TSC2):c.2184C>A (p.Cys728Ter) rs1555506557
NM_000548.5(TSC2):c.2191del (p.Asp731fs) rs2151318827
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter) rs45517216
NM_000548.5(TSC2):c.2197C>G (p.Leu733Val) rs397515163
NM_000548.5(TSC2):c.21del (p.Asp8fs) rs137854019
NM_000548.5(TSC2):c.2206_2210dup (p.Cys738fs) rs137854247
NM_000548.5(TSC2):c.220G>T (p.Glu74Ter)
NM_000548.5(TSC2):c.2220+1G>T rs137854361
NM_000548.5(TSC2):c.2220+2T>C rs397515121
NM_000548.5(TSC2):c.2221-1G>A rs45517218
NM_000548.5(TSC2):c.2221-2A>G rs45502196
NM_000548.5(TSC2):c.2225C>G (p.Ser742Ter) rs45517220
NM_000548.5(TSC2):c.2231del (p.Pro744fs) rs397515218
NM_000548.5(TSC2):c.2233_2234del (p.Lys745fs) rs137854006
NM_000548.5(TSC2):c.225+1G>A rs1567387207
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.226-1G>A rs397515134
NM_000548.5(TSC2):c.226-2A>G rs45517096
NM_000548.5(TSC2):c.2261del (p.Pro754fs) rs137854021
NM_000548.5(TSC2):c.2262dup (p.Glu755fs) rs2151327153
NM_000548.5(TSC2):c.2265_2268del (p.Glu755fs)
NM_000548.5(TSC2):c.226_228delinsTAA (p.His76Ter)
NM_000548.5(TSC2):c.2285T>A (p.Leu762Ter) rs2151327516
NM_000548.5(TSC2):c.22del (p.Asp8fs) rs2150970257
NM_000548.5(TSC2):c.2309_2315del (p.Leu770fs)
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter) rs45517225
NM_000548.5(TSC2):c.2331_2344del (p.His777fs) rs2088702417
NM_000548.5(TSC2):c.2349del (p.Lys784fs)
NM_000548.5(TSC2):c.2350A>T (p.Lys784Ter) rs751172150
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter) rs45517226
NM_000548.5(TSC2):c.2354_2355insC (p.Gln785fs) rs1596350698
NM_000548.5(TSC2):c.2355+1G>A rs45517227
NM_000548.5(TSC2):c.2355+2T>C rs45517228
NM_000548.5(TSC2):c.2355+2T>G rs45517228
NM_000548.5(TSC2):c.2355+2_2355+5del rs137854250
NM_000548.5(TSC2):c.2356-1G>A rs45481704
NM_000548.5(TSC2):c.2356-1G>C rs45481704
NM_000548.5(TSC2):c.2356-1G>T rs45481704
NM_000548.5(TSC2):c.2356-2A>C rs45517229
NM_000548.5(TSC2):c.2358_2359del (p.Glu787Aspfs) rs1555507462
NM_000548.5(TSC2):c.2362_2363dup (p.Met788fs) rs2151346636
NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter) rs45517232
NM_000548.5(TSC2):c.2377G>T (p.Glu793Ter) rs1596356248
NM_000548.5(TSC2):c.2380C>T (p.Gln794Ter) rs45517233
NM_000548.5(TSC2):c.2384dup (p.Leu796fs) rs2151347763
NM_000548.5(TSC2):c.2393_2394dup (p.Arg799fs) rs1114167463
NM_000548.5(TSC2):c.2407C>T (p.Gln803Ter) rs45517234
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.5(TSC2):c.2411_2412delinsAA (p.Cys804Ter) rs2151349354
NM_000548.5(TSC2):c.2412C>A (p.Cys804Ter) rs763123951
NM_000548.5(TSC2):c.2429_2461delinsC (p.Ile810fs) rs878854082
NM_000548.5(TSC2):c.2435_2545+153delinsTC
NM_000548.5(TSC2):c.2436del (p.Ser812fs)
NM_000548.5(TSC2):c.2440G>T (p.Glu814Ter) rs45485395
NM_000548.5(TSC2):c.2445dup (p.Pro816fs) rs2151351558
NM_000548.5(TSC2):c.2452dup (p.Ile818fs) rs2088927807
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.245G>A (p.Trp82Ter) rs397514933
NM_000548.5(TSC2):c.246G>A (p.Trp82Ter) rs1567394860
NM_000548.5(TSC2):c.2475_2503del (p.Leu826fs) rs2088933078
NM_000548.5(TSC2):c.2479_2480delinsC (p.Val827fs) rs1555507612
NM_000548.5(TSC2):c.248del (p.Lys83fs)
NM_000548.5(TSC2):c.2491dup (p.Thr831fs) rs1555507623
NM_000548.5(TSC2):c.2492dup (p.His832fs) rs2088938668
NM_000548.5(TSC2):c.2501C>G (p.Ser834Ter) rs1596356898
NM_000548.5(TSC2):c.2525del (p.Pro842fs) rs137854375
NM_000548.5(TSC2):c.252_304del (p.Val85fs)
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro) rs397515303
NM_000548.5(TSC2):c.2539_2540del (p.Leu847fs) rs1060500938
NM_000548.5(TSC2):c.2539del (p.Leu847fs) rs137854140
NM_000548.5(TSC2):c.2545+1G>A
NM_000548.5(TSC2):c.2545+2T>C rs397515262
NM_000548.5(TSC2):c.2546-1G>A rs45468292
NM_000548.5(TSC2):c.2546-1G>C rs45468292
NM_000548.5(TSC2):c.2546-2A>G rs45517246
NM_000548.5(TSC2):c.2546-313_2967-376del
NM_000548.5(TSC2):c.2548del (p.Leu850fs) rs2089256835
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro) rs45517248
NM_000548.5(TSC2):c.2562_2566del (p.His855fs) rs2151380036
NM_000548.5(TSC2):c.2566_2567insG (p.Leu856fs) rs2089261042
NM_000548.5(TSC2):c.2574del (p.Asn859fs)
NM_000548.5(TSC2):c.2579_2580del (p.Phe860fs) rs886042032
NM_000548.5(TSC2):c.2587G>T (p.Glu863Ter)
NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter) rs45517250
NM_000548.5(TSC2):c.2616_2617delinsG (p.Leu873fs) rs2089270984
NM_000548.5(TSC2):c.2623dup (p.Tyr875fs)
NM_000548.5(TSC2):c.2633_2639+1del
NM_000548.5(TSC2):c.2634del (p.Ser879fs)
NM_000548.5(TSC2):c.2637dup (p.Lys880fs)
NM_000548.5(TSC2):c.2639+1G>A rs45517252
NM_000548.5(TSC2):c.2639+1G>C rs45517252
NM_000548.5(TSC2):c.2639+4_2639+13delinsTACGGCAGGGGTTGCCGTACACCAACCCCT rs2089276880
NM_000548.5(TSC2):c.2640-1G>A rs397515203
NM_000548.5(TSC2):c.2640-2A>G rs137854380
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter) rs45476100
NM_000548.5(TSC2):c.2649_2651dup (p.Tyr884Ter)
NM_000548.5(TSC2):c.2660_2661del (p.Cys887fs) rs137854232
NM_000548.5(TSC2):c.2661T>A (p.Cys887Ter) rs45475594
NM_000548.5(TSC2):c.2661_2664del (p.Cys887fs) rs1060500914
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.2678_2679del (p.Ile893fs)
NM_000548.5(TSC2):c.267_268delinsTT (p.Leu89_Gln90delinsPheTer)
NM_000548.5(TSC2):c.2687_2690dup (p.Phe897fs) rs2151387560
NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter) rs397514913
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.2690T>C (p.Phe897Ser) rs45517255
NM_000548.5(TSC2):c.2690del (p.Phe897fs)
NM_000548.5(TSC2):c.2699G>A (p.Cys900Tyr) rs2089323124
NM_000548.5(TSC2):c.26C>G (p.Ser9Ter) rs397515228
NM_000548.5(TSC2):c.2700C>A (p.Cys900Ter) rs45517257
NM_000548.5(TSC2):c.2702dup (p.Leu902fs)
NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly) rs45517258
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.2729_2733del (p.Pro910fs)
NM_000548.5(TSC2):c.2732del (p.Phe911fs)
NM_000548.5(TSC2):c.2733del (p.Phe911fs) rs137854328
NM_000548.5(TSC2):c.2740_2741delinsG (p.Lys914fs) rs2089331902
NM_000548.5(TSC2):c.2742+1G>A rs45517262
NM_000548.5(TSC2):c.2742+5G>A rs397515076
NM_000548.5(TSC2):c.2742+5G>C
NM_000548.5(TSC2):c.2742G>A (p.Lys914=) rs137854877
NM_000548.5(TSC2):c.2743-1G>A rs45517263
NM_000548.5(TSC2):c.2743-1G>C rs45517263
NM_000548.5(TSC2):c.2743-1G>T rs45517263
NM_000548.5(TSC2):c.2743-1_2755dup
NM_000548.5(TSC2):c.2746del (p.Leu916fs)
NM_000548.5(TSC2):c.2747T>C (p.Leu916Pro) rs137854405
NM_000548.5(TSC2):c.2763_2764dup (p.Leu922fs) rs1555508917
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs) rs1555508929
NM_000548.5(TSC2):c.2765T>A (p.Leu922Ter)
NM_000548.5(TSC2):c.2772del (p.Phe924fs) rs1555508938
NM_000548.5(TSC2):c.2790_2793del (p.Asp931fs)
NM_000548.5(TSC2):c.2806del (p.Arg936fs)
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter) rs45517270
NM_000548.5(TSC2):c.2827A>T (p.Arg943Ter) rs1596369682
NM_000548.5(TSC2):c.2832del (p.Lys945fs)
NM_000548.5(TSC2):c.2838-122G>A rs1567489890
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
NM_000548.5(TSC2):c.294dup (p.His99fs)
NM_000548.5(TSC2):c.2967-32_3105del
NM_000548.5(TSC2):c.2972dup (p.Gln992fs) rs2089786684
NM_000548.5(TSC2):c.2974C>T (p.Gln992Ter) rs45438592
NM_000548.5(TSC2):c.2997_2998dup (p.Leu1000fs) rs1596382268
NM_000548.5(TSC2):c.3020_3021delinsAA (p.Ser1007Ter) rs2151431781
NM_000548.5(TSC2):c.3032del (p.Ala1011fs) rs1596382441
NM_000548.5(TSC2):c.3040dup (p.Ser1014fs) rs2151432406
NM_000548.5(TSC2):c.3059_3060insCCAT (p.Glu1021fs)
NM_000548.5(TSC2):c.3067dup (p.Thr1023fs)
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3095_3102dup (p.Phe1035fs) rs1114167461
NM_000548.5(TSC2):c.3095_3107del (p.Arg1032fs)
NM_000548.5(TSC2):c.3098dup (p.Tyr1033Ter) rs137854015
NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter) rs45464800
NM_000548.5(TSC2):c.3099C>G (p.Tyr1033Ter) rs45464800
NM_000548.5(TSC2):c.3099del (p.Arg1032_Tyr1033insTer) rs137854157
NM_000548.5(TSC2):c.3104del (p.Phe1035fs)
NM_000548.5(TSC2):c.3131+1G>A rs45506401
NM_000548.5(TSC2):c.3131+2T>A rs397515036
NM_000548.5(TSC2):c.3131G>A (p.Arg1044Lys) rs397515302
NM_000548.5(TSC2):c.3131G>C (p.Arg1044Thr) rs397515302
NM_000548.5(TSC2):c.3132-1G>A rs45443096
NM_000548.5(TSC2):c.3132-1G>T rs45443096
NM_000548.5(TSC2):c.3132-2A>C rs45517282
NM_000548.5(TSC2):c.3132-2A>G
NM_000548.5(TSC2):c.3132_3133insAGAC (p.Ser1045fs)
NM_000548.5(TSC2):c.3145G>T (p.Glu1049Ter) rs796053492
NM_000548.5(TSC2):c.3156del (p.Ala1053fs) rs2151437486
NM_000548.5(TSC2):c.3164_3170del (p.Gly1055fs) rs2151437718
NM_000548.5(TSC2):c.3164_3171dup (p.Lys1058fs)
NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter) rs796053509
NM_000548.5(TSC2):c.3182_3183insAACC (p.Val1062fs) rs1555510579
NM_000548.5(TSC2):c.3189del (p.Asn1064fs) rs1567498041
NM_000548.5(TSC2):c.3190_3209dup (p.Ser1072_Val1073insLeuSerLeuTerThrSer)
NM_000548.5(TSC2):c.3190_3285-15del
NM_000548.5(TSC2):c.3203C>T (p.Thr1068Ile) rs397515284
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs) rs137854076
NM_000548.5(TSC2):c.3207GAC[1] (p.Thr1071del)
NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg) rs45498892
NM_000548.5(TSC2):c.3212_3213del (p.Thr1071fs) rs1057518448
NM_000548.5(TSC2):c.3214del (p.Ser1072fs) rs137854106
NM_000548.5(TSC2):c.3223_3229dup (p.Thr1077fs) rs397515115
NM_000548.5(TSC2):c.3228_3234dup (p.Ser1079fs) rs2089834376
NM_000548.5(TSC2):c.322dup (p.Ile108fs) rs2085375504
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.3239T>A (p.Leu1080Ter) rs2089838149
NM_000548.5(TSC2):c.3239dup (p.Leu1080fs)
NM_000548.5(TSC2):c.3247del (p.Leu1083fs)
NM_000548.5(TSC2):c.3251del (p.Asp1084fs) rs2089840483
NM_000548.5(TSC2):c.3253delinsCC (p.Ser1085fs) rs1596384304
NM_000548.5(TSC2):c.3254C>A (p.Ser1085Ter) rs45517287
NM_000548.5(TSC2):c.3255_3262del (p.Gly1086fs)
NM_000548.5(TSC2):c.3259G>T (p.Glu1087Ter) rs1085307762
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs) rs137854302
NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter) rs45517288
NM_000548.5(TSC2):c.3270del (p.Gly1091fs)
NM_000548.5(TSC2):c.3281C>A (p.Ser1094Ter) rs397514887
NM_000548.5(TSC2):c.3284+1G>A rs45517289
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn) rs1555510754
NM_000548.5(TSC2):c.328C>T (p.Gln110Ter) rs1064796511
NM_000548.5(TSC2):c.3294dup (p.Gly1099fs) rs397515048
NM_000548.5(TSC2):c.3298del (p.Val1100fs) rs137854162
NM_000548.5(TSC2):c.329del (p.Gln110fs) rs1567395826
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer) rs796053515
NM_000548.5(TSC2):c.3305_3306del (p.Val1102fs)
NM_000548.5(TSC2):c.3305_3306dup (p.Arg1103Ter) rs2151444781
NM_000548.5(TSC2):c.3307A>T (p.Arg1103Ter)
NM_000548.5(TSC2):c.3310C>T (p.Gln1104Ter) rs397514978
NM_000548.5(TSC2):c.3310_3311del (p.Gln1104fs) rs137854018
NM_000548.5(TSC2):c.3316A>T (p.Lys1106Ter) rs2151445155
NM_000548.5(TSC2):c.3337dup (p.Glu1113fs) rs397515144
NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter) rs137854253
NM_000548.5(TSC2):c.3352C>T (p.Gln1118Ter) rs45496291
NM_000548.5(TSC2):c.3355C>T (p.Gln1119Ter) rs45517292
NM_000548.5(TSC2):c.336+1G>A rs45517102
NM_000548.5(TSC2):c.336+1G>C rs45517102
NM_000548.5(TSC2):c.336+1G>T
NM_000548.5(TSC2):c.336+2T>G rs45505995
NM_000548.5(TSC2):c.336+5G>C rs1057523242
NM_000548.5(TSC2):c.3361_3362delinsGACA (p.Ser1121fs) rs2089878502
NM_000548.5(TSC2):c.3364del (p.Arg1122fs) rs2151446681
NM_000548.5(TSC2):c.336G>A (p.Gln112=)
NM_000548.5(TSC2):c.337-1G>A rs45517105
NM_000548.5(TSC2):c.337-1G>T rs45517105
NM_000548.5(TSC2):c.337-2A>C
NM_000548.5(TSC2):c.3376del (p.Asp1126fs) rs397515125
NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter) rs137854074
NM_000548.5(TSC2):c.3397+1G>A rs137854208
NM_000548.5(TSC2):c.3397+1G>T rs137854208
NM_000548.5(TSC2):c.3397+4A>G
NM_000548.5(TSC2):c.3397+5G>A rs45501492
NM_000548.5(TSC2):c.3398-1G>A rs45517293
NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs) rs137854314
NM_000548.5(TSC2):c.3403del (p.His1135fs) rs1596389437
NM_000548.5(TSC2):c.3404del (p.His1135fs) rs1064793464
NM_000548.5(TSC2):c.340G>T (p.Glu114Ter) rs397515021
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3424del (p.Leu1142fs) rs1596389562
NM_000548.5(TSC2):c.3433_3437delinsGCA (p.Pro1145fs) rs2089956522
NM_000548.5(TSC2):c.3434del (p.Pro1145fs) rs2151456652
NM_000548.5(TSC2):c.3439dup (p.Ser1147fs) rs2151456849
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter) rs45477491
NM_000548.5(TSC2):c.3448del (p.Leu1150fs) rs1555511352
NM_000548.5(TSC2):c.3448dup (p.Leu1150fs) rs1555511352
NM_000548.5(TSC2):c.3452del (p.Gly1151fs) rs1131691419
NM_000548.5(TSC2):c.3455del (p.Ser1152fs)
NM_000548.5(TSC2):c.3473dup (p.Arg1159fs) rs2151458037
NM_000548.5(TSC2):c.347del (p.Leu116fs) rs1567398983
NM_000548.5(TSC2):c.34A>T (p.Lys12Ter) rs45512692
NM_000548.5(TSC2):c.3505del (p.Ala1169fs) rs2151459190
NM_000548.5(TSC2):c.3520del (p.Arg1174fs) rs137854326
NM_000548.5(TSC2):c.352del (p.Val118fs) rs137853982
NM_000548.5(TSC2):c.352dup (p.Val118fs) rs137853982
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) rs45517297
NM_000548.5(TSC2):c.3547_3548delinsTA (p.Leu1183Ter) rs1567504592
NM_000548.5(TSC2):c.3558T>G (p.Tyr1186Ter) rs1202939879
NM_000548.5(TSC2):c.3559dup (p.Val1187fs)
NM_000548.5(TSC2):c.3560_3567del (p.Val1187fs)
NM_000548.5(TSC2):c.3565del (p.Leu1189fs) rs137854121
NM_000548.5(TSC2):c.3574C>T (p.Gln1192Ter) rs45517298
NM_000548.5(TSC2):c.3581G>A (p.Trp1194Ter) rs397515168
NM_000548.5(TSC2):c.3582G>A (p.Trp1194Ter) rs2151462008
NM_000548.5(TSC2):c.3586G>T (p.Glu1196Ter) rs1555511585
NM_000548.5(TSC2):c.358A>T (p.Arg120Ter) rs1131691602
NM_000548.5(TSC2):c.3592del (p.Leu1198fs)
NM_000548.5(TSC2):c.360_361del (p.Arg120fs) rs876658878
NM_000548.5(TSC2):c.3610+1G>A rs45517299
NM_000548.5(TSC2):c.3610+1G>C rs45517299
NM_000548.5(TSC2):c.3610+1G>T rs45517299
NM_000548.5(TSC2):c.3610+2T>C
NM_000548.5(TSC2):c.3610+419C>G
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.3620_3624del (p.Ser1207fs) rs397514952
NM_000548.5(TSC2):c.3620dup (p.Ser1207fs) rs2151480775
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly) rs45482795
NM_000548.5(TSC2):c.3622dup (p.Trp1208fs)
NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter) rs397514979
NM_000548.5(TSC2):c.3624G>A (p.Trp1208Ter) rs796053496
NM_000548.5(TSC2):c.3641_3814+28del rs1555512330
NM_000548.5(TSC2):c.3648del (p.Ser1217fs)
NM_000548.5(TSC2):c.364del (p.Leu122fs) rs2085499583
NM_000548.5(TSC2):c.3653_3654del (p.Pro1218fs) rs2151481415
NM_000548.5(TSC2):c.3653del (p.Pro1218fs) rs1057518201
NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter) rs45517305
NM_000548.5(TSC2):c.3663_3664del (p.Asp1222fs) rs137854393
NM_000548.5(TSC2):c.3669del (p.Asn1224fs) rs137854223
NM_000548.5(TSC2):c.3682del (p.Leu1228fs)
NM_000548.5(TSC2):c.3683del (p.Leu1228fs) rs1596400038
NM_000548.5(TSC2):c.3684dup (p.Gln1229fs)
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter) rs45517306
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter) rs137854210
NM_000548.5(TSC2):c.3697_3698insGA (p.Asn1233fs) rs2090159838
NM_000548.5(TSC2):c.3706dup (p.Met1236fs) rs2151482554
NM_000548.5(TSC2):c.3727G>T (p.Glu1243Ter) rs1057520759
NM_000548.5(TSC2):c.372_373insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAGCCCTCTTCTTT (p.Lys125delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
NM_000548.5(TSC2):c.3736del (p.Asp1246fs) rs796053516
NM_000548.5(TSC2):c.3738dup (p.Thr1247fs) rs796053506
NM_000548.5(TSC2):c.3739del (p.Thr1247fs) rs796053517
NM_000548.5(TSC2):c.3742_3751del (p.Ala1248fs) rs2151483315
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs) rs1555512486
NM_000548.5(TSC2):c.3750C>A (p.Tyr1250Ter) rs45517308
NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter) rs45517308
NM_000548.5(TSC2):c.3752del (p.Lys1251fs)
NM_000548.5(TSC2):c.3759del (p.Ser1254fs) rs1555512497
NM_000548.5(TSC2):c.3761C>A (p.Ser1254Ter)
NM_000548.5(TSC2):c.3774del (p.Ser1259fs)
NM_000548.5(TSC2):c.3777del (p.Ser1259fs) rs1114167459
NM_000548.5(TSC2):c.3780_3787del (p.Ala1261fs) rs2090169575
NM_000548.5(TSC2):c.3786dup (p.Pro1263fs) rs2090170656
NM_000548.5(TSC2):c.3791del (p.Pro1264fs) rs137854001
NM_000548.5(TSC2):c.3794dup (p.Leu1266fs)
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000548.5(TSC2):c.3814+1G>A rs397514902
NM_000548.5(TSC2):c.3841_3853del (p.Ser1281fs) rs796053518
NM_000548.5(TSC2):c.3884-1G>C rs137854079
NM_000548.5(TSC2):c.3884-2A>T rs137854053
NM_000548.5(TSC2):c.3884-497_5045del
NM_000548.5(TSC2):c.3904G>T (p.Glu1302Ter) rs886039680
NM_000548.5(TSC2):c.3917del (p.Gly1306fs)
NM_000548.5(TSC2):c.3939del (p.Glu1313fs) rs2090423688
NM_000548.5(TSC2):c.3944dup (p.Gly1316fs) rs137854011
NM_000548.5(TSC2):c.3950dup (p.Leu1317fs) rs2151512451
NM_000548.5(TSC2):c.3952G>T (p.Glu1318Ter) rs1064793797
NM_000548.5(TSC2):c.3955_3958dup (p.Val1320fs)
NM_000548.5(TSC2):c.3956_3962del (p.Asp1319fs) rs2151512637
NM_000548.5(TSC2):c.3999C>A (p.Tyr1333Ter) rs775604492
NM_000548.5(TSC2):c.4005+1G>A rs45517324
NM_000548.5(TSC2):c.4005+1G>C rs45517324
NM_000548.5(TSC2):c.4005+1G>T rs45517324
NM_000548.5(TSC2):c.4006-1G>A rs1085307853
NM_000548.5(TSC2):c.4006-2A>G rs397514941
NM_000548.5(TSC2):c.4006-2A>T rs397514941
NM_000548.5(TSC2):c.400G>T (p.Glu134Ter) rs1555497641
NM_000548.5(TSC2):c.4013_4014del (p.Ser1338fs) rs2151520497
NM_000548.5(TSC2):c.4014dup (p.Val1339fs) rs2151520544
NM_000548.5(TSC2):c.4024C>T (p.Gln1342Ter) rs397515003
NM_000548.5(TSC2):c.4030G>T (p.Glu1344Ter) rs397515035
NM_000548.5(TSC2):c.4033A>T (p.Lys1345Ter) rs2151521044
NM_000548.5(TSC2):c.4051G>T (p.Glu1351Ter) rs878854101
NM_000548.5(TSC2):c.4070del (p.Ile1357fs)
NM_000548.5(TSC2):c.4078G>T (p.Glu1360Ter) rs397514997
NM_000548.5(TSC2):c.4079del (p.Glu1360fs)
NM_000548.5(TSC2):c.4085_4098del (p.Val1362fs) rs2151522509
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter) rs45517327
NM_000548.5(TSC2):c.4099_4100insT (p.Gly1367fs) rs1064793573
NM_000548.5(TSC2):c.4106_4109dup (p.Ser1371fs) rs2090492186
NM_000548.5(TSC2):c.4106_4110del (p.Arg1369fs) rs1567521369
NM_000548.5(TSC2):c.4114_4123dup (p.Ser1375fs) rs2151523516
NM_000548.5(TSC2):c.4115_4116del (p.Val1372fs) rs137854368
NM_000548.5(TSC2):c.4123_4124del (p.Ser1375fs) rs137854289
NM_000548.5(TSC2):c.4127dup (p.Gln1377fs) rs2151524044
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter) rs45517329
NM_000548.5(TSC2):c.4129del (p.Gln1377fs) rs2151524091
NM_000548.5(TSC2):c.412G>T (p.Glu138Ter) rs1173061992
NM_000548.5(TSC2):c.4135_4136del (p.Ser1379fs) rs2090496214
NM_000548.5(TSC2):c.4135_4160dup (p.Ser1387_Ser1388insArgSerProTer) rs1555514034
NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter) rs137854045
NM_000548.5(TSC2):c.4144_4145del (p.Leu1382fs)
NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter) rs397514976
NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs) rs397515009
NM_000548.5(TSC2):c.4149C>T (p.Ser1383=)
NM_000548.5(TSC2):c.4149dup (p.Lys1384fs) rs1555514063
NM_000548.5(TSC2):c.4168G>T (p.Glu1390Ter) rs397515033
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter) rs45517330
NM_000548.5(TSC2):c.4180_4181del (p.Leu1394fs) rs137854363
NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter) rs886041772
NM_000548.5(TSC2):c.4198_4207del (p.Asp1400fs)
NM_000548.5(TSC2):c.41del (p.Lys14fs) rs2084674122
NM_000548.5(TSC2):c.4207del (p.Asp1403fs) rs137854273
NM_000548.5(TSC2):c.421G>T (p.Glu141Ter) rs1060500924
NM_000548.5(TSC2):c.4220_4221del (p.Val1407fs) rs1555514179
NM_000548.5(TSC2):c.4223G>A (p.Gly1408Asp)
NM_000548.5(TSC2):c.4223del (p.Gly1408fs) rs137854427
NM_000548.5(TSC2):c.4242dup (p.Lys1415Ter)
NM_000548.5(TSC2):c.4246dup (p.Ala1416fs)
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter) rs45437193
NM_000548.5(TSC2):c.4255_4256del (p.Gln1419fs) rs2151529577
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs) rs137854132
NM_000548.5(TSC2):c.4263dup (p.Thr1422fs)
NM_000548.5(TSC2):c.4270dup (p.Asp1424fs)
NM_000548.5(TSC2):c.4275_4294del (p.Glu1426fs)
NM_000548.5(TSC2):c.4276dup (p.Glu1426fs) rs886041573
NM_000548.5(TSC2):c.4279del (p.Ser1427fs) rs137854113
NM_000548.5(TSC2):c.4279dup (p.Ser1427fs) rs137854113
NM_000548.5(TSC2):c.4280del (p.Ser1427fs) rs2151530795
NM_000548.5(TSC2):c.4287dup (p.Trp1430fs) rs2090516898
NM_000548.5(TSC2):c.428del (p.Phe143fs) rs1057518508
NM_000548.5(TSC2):c.4290G>A (p.Trp1430Ter) rs45517334
NM_000548.5(TSC2):c.4298C>A (p.Ser1433Ter) rs45517335
NM_000548.5(TSC2):c.4303G>T (p.Glu1435Ter) rs1441136255
NM_000548.5(TSC2):c.4309_4312del (p.Ser1437fs) rs137854415
NM_000548.5(TSC2):c.4316del (p.Gly1439fs) rs137853988
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) rs45517337
NM_000548.5(TSC2):c.4323del (p.Glu1442fs) rs137854327
NM_000548.5(TSC2):c.4324G>T (p.Glu1442Ter) rs45469392
NM_000548.5(TSC2):c.4338_4341dup (p.Ser1448fs) rs1596417662
NM_000548.5(TSC2):c.4344_4346delinsTT (p.Arg1451fs) rs1555514354
NM_000548.5(TSC2):c.4345del (p.Ser1449fs) rs2090524176
NM_000548.5(TSC2):c.4351del (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.4355C>A (p.Ser1452Ter) rs45517339
NM_000548.5(TSC2):c.4359del (p.Ser1454fs) rs397515237
NM_000548.5(TSC2):c.4369del (p.Arg1457fs) rs1567524236
NM_000548.5(TSC2):c.4371dup (p.Pro1458fs) rs137854046
NM_000548.5(TSC2):c.4375del (p.Arg1459fs) rs397514959
NM_000548.5(TSC2):c.4379_4395dup (p.Ser1466fs) rs2151534791
NM_000548.5(TSC2):c.4383del (p.Gly1460_Tyr1461insTer)
NM_000548.5(TSC2):c.4397C>A (p.Ser1466Ter) rs45517341
NM_000548.5(TSC2):c.4398_4401del (p.Ala1467fs) rs2090530802
NM_000548.5(TSC2):c.4404_4407dup (p.Arg1470fs)
NM_000548.5(TSC2):c.440_441del (p.Thr147fs) rs137854292
NM_000548.5(TSC2):c.4415del (p.Gly1472fs) rs794727573
NM_000548.5(TSC2):c.4416del (p.Lys1473fs)
NM_000548.5(TSC2):c.4422_4423del (p.Arg1474fs) rs137854307
NM_000548.5(TSC2):c.4424del (p.Val1475fs) rs2151536071
NM_000548.5(TSC2):c.4429_4430del (p.Arg1477fs) rs1567524949
NM_000548.5(TSC2):c.4437_4440delinsTTT (p.Lys1481fs) rs1555514548
NM_000548.5(TSC2):c.4439T>A (p.Leu1480Ter) rs45446594
NM_000548.5(TSC2):c.4439dup (p.Leu1480fs)
NM_000548.5(TSC2):c.4440_4441insT (p.Lys1481Ter) rs2151536718
NM_000548.5(TSC2):c.4441A>T (p.Lys1481Ter)
NM_000548.5(TSC2):c.4441_4442del (p.Lys1481fs) rs137854312
NM_000548.5(TSC2):c.4442dup (p.Ser1482fs) rs137854312
NM_000548.5(TSC2):c.4470_4471del (p.Lys1491fs) rs2151537568
NM_000548.5(TSC2):c.4470_4471delinsTT (p.Glu1490_Lys1491delinsAspTer) rs2090542594
NM_000548.5(TSC2):c.4473del (p.Val1492fs) rs397515023
NM_000548.5(TSC2):c.4473dup (p.Val1492fs) rs397515023
NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr) rs45517344
NM_000548.5(TSC2):c.4490C>G (p.Pro1497Arg) rs45497997
NM_000548.5(TSC2):c.4490C>T (p.Pro1497Leu) rs45497997
NM_000548.5(TSC2):c.4493+1G>A rs1057518230
NM_000548.5(TSC2):c.4494-2A>G rs397514990
NM_000548.5(TSC2):c.4495_4499del (p.Phe1499Valfs) rs886041905
NM_000548.5(TSC2):c.4504del (p.Leu1502fs) rs137854160
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter) rs45517348
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4515C>G (p.Tyr1505Ter) rs45471791
NM_000548.5(TSC2):c.4516del (p.His1506fs) rs137854017
NM_000548.5(TSC2):c.4524del (p.Phe1509fs) rs1567526941
NM_000548.5(TSC2):c.4536_4543del (p.Asp1512fs)
NM_000548.5(TSC2):c.4537G>T (p.Glu1513Ter)
NM_000548.5(TSC2):c.4537del (p.Glu1513fs) rs137854028
NM_000548.5(TSC2):c.4539_4540insGGGCGACGAG (p.Ser1514fs)
NM_000548.5(TSC2):c.4541C>G (p.Ser1514Ter) rs74363455
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.4544del (p.Asn1515fs) rs886041789
NM_000548.5(TSC2):c.4546_4549del (p.Lys1516fs) rs886041643
NM_000548.5(TSC2):c.4557del (p.Leu1520fs)
NM_000548.5(TSC2):c.4566del (p.Asn1522fs)
NM_000548.5(TSC2):c.4569+1G>A rs1060500972
NM_000548.5(TSC2):c.4569+2_4569+5del rs2151545272
NM_000548.5(TSC2):c.4571C>A (p.Ser1524Ter) rs1441428144
NM_000548.5(TSC2):c.4571C>G (p.Ser1524Ter) rs1441428144
NM_000548.5(TSC2):c.4572dup (p.Gln1525fs) rs137854425
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter) rs45517352
NM_000548.5(TSC2):c.4573_4574del (p.Gln1525fs) rs2090620654
NM_000548.5(TSC2):c.4578del (p.Phe1527fs) rs2151550210
NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter) rs137854329
NM_000548.5(TSC2):c.4582G>T (p.Glu1528Ter)
NM_000548.5(TSC2):c.4589C>A (p.Ser1530Ter)
NM_000548.5(TSC2):c.4593_4594delinsTT (p.Gln1532Ter)
NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter) rs886041919
NM_000548.5(TSC2):c.45_51del (p.Lys16fs) rs397514958
NM_000548.5(TSC2):c.45dup (p.Lys16Ter) rs397515020
NM_000548.5(TSC2):c.4616C>A (p.Ser1539Ter)
NM_000548.5(TSC2):c.4620C>A (p.Tyr1540Ter) rs45455897
NM_000548.5(TSC2):c.4620C>G (p.Tyr1540Ter) rs45455897
NM_000548.5(TSC2):c.4642del (p.Leu1548fs) rs137854083
NM_000548.5(TSC2):c.4643T>C (p.Leu1548Pro) rs397515070
NM_000548.5(TSC2):c.4644del (p.Tyr1549fs) rs2151553190
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys) rs45517355
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del) rs137854146
NM_000548.5(TSC2):c.4660C>T (p.Gln1554Ter) rs2090634528
NM_000548.5(TSC2):c.4662+1G>A rs45514095
NM_000548.5(TSC2):c.4662+1G>T
NM_000548.5(TSC2):c.4662+2T>C
NM_000548.5(TSC2):c.4662+2_4662+6del rs796053520
NM_000548.5(TSC2):c.4662G>A (p.Gln1554=) rs137854880
NM_000548.5(TSC2):c.4662G>T (p.Gln1554His) rs137854880
NM_000548.5(TSC2):c.4663-1G>A rs45517358
NM_000548.5(TSC2):c.4663-1G>T rs45517358
NM_000548.5(TSC2):c.4663-2A>C
NM_000548.5(TSC2):c.4663-2A>G
NM_000548.5(TSC2):c.4665_4666insT (p.Asn1556Ter) rs2151569238
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.4672G>T (p.Glu1558Ter) rs45517360
NM_000548.5(TSC2):c.4705dup (p.Tyr1569fs)
NM_000548.5(TSC2):c.4707C>G (p.Tyr1569Ter) rs397515277
NM_000548.5(TSC2):c.4710G>C (p.Arg1570Ser)
NM_000548.5(TSC2):c.472G>T (p.Glu158Ter)
NM_000548.5(TSC2):c.4730del (p.Gly1577fs) rs397515173
NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro) rs45517367
NM_000548.5(TSC2):c.4736dup (p.Arg1580fs) rs2090775918
NM_000548.5(TSC2):c.4738dup (p.Arg1580fs)
NM_000548.5(TSC2):c.4753_4763del (p.Lys1585fs) rs1567533189
NM_000548.5(TSC2):c.4756del (p.Asp1586fs) rs2151573209
NM_000548.5(TSC2):c.475G>T (p.Glu159Ter) rs1555497714
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter) rs45479192
NM_000548.5(TSC2):c.4772del (p.Lys1591fs) rs2151573795
NM_000548.5(TSC2):c.4779C>G (p.Tyr1593Ter) rs45517368
NM_000548.5(TSC2):c.4783G>C (p.Gly1595Arg)
NM_000548.5(TSC2):c.4795del (p.Val1599fs)
NM_000548.5(TSC2):c.4798_4804dup (p.Glu1602delinsValTrpTer) rs2090784195
NM_000548.5(TSC2):c.4800_4801del (p.Cys1600fs) rs1567533467
NM_000548.5(TSC2):c.4803dup (p.Glu1602Ter) rs2090784696
NM_000548.5(TSC2):c.4804G>T (p.Glu1602Ter)
NM_000548.5(TSC2):c.481+1G>A rs45488500
NM_000548.5(TSC2):c.481+1G>T rs45488500
NM_000548.5(TSC2):c.481+5G>A rs137854135
NM_000548.5(TSC2):c.481+5G>T rs137854135
NM_000548.5(TSC2):c.4810_4811del (p.Gly1604fs) rs2151575311
NM_000548.5(TSC2):c.4811del (p.Gly1604fs) rs2090785469
NM_000548.5(TSC2):c.4813C>T (p.Gln1605Ter) rs397514888
NM_000548.5(TSC2):c.482-1G>A rs137854306
NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del) rs137854399
NM_000548.5(TSC2):c.4824C>G (p.Tyr1608Ter)
NM_000548.5(TSC2):c.4827C>A (p.Cys1609Ter) rs1179490369
NM_000548.5(TSC2):c.4827_4835delinsG (p.Cys1609fs)
NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter) rs45517371
NM_000548.5(TSC2):c.4830G>A (p.Trp1610Ter) rs45517372
NM_000548.5(TSC2):c.4830_4837del (p.Trp1610_Asp1613delinsTer) rs1596439555
NM_000548.5(TSC2):c.4834_4850-95del rs2151576283
NM_000548.5(TSC2):c.4836_4839dup (p.Ile1614Ter)
NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del) rs137854331
NM_000548.5(TSC2):c.4844_4845dup (p.Gln1616fs) rs2151576756
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter) rs45455296
NM_000548.5(TSC2):c.4849+1G>A rs45517375
NM_000548.5(TSC2):c.4849+1G>T rs45517375
NM_000548.5(TSC2):c.4850-1G>A rs45517377
NM_000548.5(TSC2):c.4850-2A>G rs397515315
NM_000548.5(TSC2):c.4858C>T (p.His1620Tyr) rs45446901
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile) rs397515220
NM_000548.5(TSC2):c.4869_4870insAAGGCATCGTC (p.Leu1624fs) rs2090851576
NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs) rs137854050
NM_000548.5(TSC2):c.4881del (p.Lys1628fs) rs1064793646
NM_000548.5(TSC2):c.4882_4900del (p.Lys1628fs) rs2151585074
NM_000548.5(TSC2):c.4883dup (p.Asp1629fs) rs2151585265
NM_000548.5(TSC2):c.4889dup (p.Asp1631fs) rs2151585509
NM_000548.5(TSC2):c.488_489del (p.Phe163fs) rs137854122
NM_000548.5(TSC2):c.4903_4917del (p.Cys1635_Arg1639del)
NM_000548.5(TSC2):c.4905dup (p.Asp1636fs) rs2151586233
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr) rs45485092
NM_000548.5(TSC2):c.4924_4936del (p.Gly1642fs) rs2151587004
NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp) rs137854343
NM_000548.5(TSC2):c.4925del (p.Gly1642fs) rs137854156
NM_000548.5(TSC2):c.4927A>C (p.Asn1643His) rs45517379
NM_000548.5(TSC2):c.4930G>T (p.Asp1644Tyr) rs137853999
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs) rs137854141
NM_000548.5(TSC2):c.4935dup (p.Val1646fs) rs137854141
NM_000548.5(TSC2):c.4936G>A (p.Val1646Met) rs1064796970
NM_000548.5(TSC2):c.4938_4939del (p.Ser1647fs)
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr) rs45471896
NM_000548.5(TSC2):c.4950C>G (p.Tyr1650Ter) rs1283177454
NM_000548.5(TSC2):c.4951_4957del (p.Asn1651fs) rs1060500950
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.4952del (p.Asn1651fs) rs2090865155
NM_000548.5(TSC2):c.4954_4955insTT (p.Asp1652fs)
NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro) rs397515159
NM_000548.5(TSC2):c.4966G>T (p.Asp1656Tyr)
NM_000548.5(TSC2):c.4966_4989+14delinsTGA rs2151588861
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter) rs45517111
NM_000548.5(TSC2):c.4989+1G>A rs45517386
NM_000548.5(TSC2):c.4989+2T>A rs2090871271
NM_000548.5(TSC2):c.4990-1G>A rs1555439650
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter) rs45448101
NM_000548.5(TSC2):c.5003_5004del (p.Phe1668fs) rs2151611619
NM_000548.5(TSC2):c.500G>A (p.Trp167Ter) rs1131691794
NM_000548.5(TSC2):c.5017del (p.Val1673fs) rs2091048308
NM_000548.5(TSC2):c.5018T>G (p.Val1673Gly) rs397515067
NM_000548.5(TSC2):c.5018_5042dup (p.Leu1682fs) rs1596455074
NM_000548.5(TSC2):c.501G>A (p.Trp167Ter) rs755728007
NM_000548.5(TSC2):c.501_508del (p.Trp167fs)
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) rs45483392
NM_000548.5(TSC2):c.5024C>G (p.Pro1675Arg) rs45483392
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5025del (p.Leu1676fs) rs137854382
NM_000548.5(TSC2):c.5028_5032dup (p.Tyr1678fs) rs1555439753
NM_000548.5(TSC2):c.5034C>A (p.Tyr1678Ter) rs45467993
NM_000548.5(TSC2):c.5034C>G (p.Tyr1678Ter) rs45467993
NM_000548.5(TSC2):c.5043C>A (p.Asn1681Lys)
NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys) rs45476793
NM_000548.5(TSC2):c.5048T>G (p.Val1683Gly) rs2151613782
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter) rs45517388
NM_000548.5(TSC2):c.5064_5065delinsTT (p.Arg1688_Lys1689delinsSerTer) rs1555439847
NM_000548.5(TSC2):c.5068+1G>A rs45445199
NM_000548.5(TSC2):c.5068+1G>T rs45445199
NM_000548.5(TSC2):c.5068+2T>C rs397515152
NM_000548.5(TSC2):c.5068G>C (p.Asp1690His) rs137854882
NM_000548.5(TSC2):c.5068G>T (p.Asp1690Tyr) rs137854882
NM_000548.5(TSC2):c.5069-18A>G rs45484794
NM_000548.5(TSC2):c.5069-1G>C rs45517389
NM_000548.5(TSC2):c.5069-2A>C rs45487291
NM_000548.5(TSC2):c.5069-2A>G rs45487291
NM_000548.5(TSC2):c.506del (p.Asp169fs) rs1596270787
NM_000548.5(TSC2):c.5074dup (p.Glu1692fs) rs2091087487
NM_000548.5(TSC2):c.5075_5078del (p.Glu1692fs) rs137854037
NM_000548.5(TSC2):c.5076_5104del (p.Glu1692fs) rs2151619821
NM_000548.5(TSC2):c.5078del (p.Gly1693fs) rs1555440022
NM_000548.5(TSC2):c.5081_5082insA (p.Val1695fs) rs2091089201
NM_000548.5(TSC2):c.5082del (p.Val1695fs)
NM_000548.5(TSC2):c.5086dup (p.Asp1696fs) rs2151620335
NM_000548.5(TSC2):c.5103_5104del (p.Lys1701fs) rs2151620921
NM_000548.5(TSC2):c.5108dup (p.Ser1704fs) rs397515227
NM_000548.5(TSC2):c.5111_5112dup (p.Asp1705fs)
NM_000548.5(TSC2):c.5112dup (p.Asp1705Ter) rs397515205
NM_000548.5(TSC2):c.5114_5117dup (p.Asn1707fs) rs2151621480
NM_000548.5(TSC2):c.5115_5116dup (p.Arg1706fs)
NM_000548.5(TSC2):c.5120dup (p.Asn1707fs)
NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg) rs45517393
NM_000548.5(TSC2):c.5126C>T (p.Pro1709Leu) rs45517393
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter) rs45517396
NM_000548.5(TSC2):c.5140del (p.Gln1714fs) rs878854115
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) rs45517398
NM_000548.5(TSC2):c.515dup (p.Leu172fs)
NM_000548.5(TSC2):c.5160+1G>A rs45517399
NM_000548.5(TSC2):c.5160+1G>T rs45517399
NM_000548.5(TSC2):c.5160+2T>C rs397515170
NM_000548.5(TSC2):c.5160+2_5160+3del rs137854036
NM_000548.5(TSC2):c.5160+2dup rs397514969
NM_000548.5(TSC2):c.5160+3G>T rs45517401
NM_000548.5(TSC2):c.5160+4A>C rs45517403
NM_000548.5(TSC2):c.5161-1G>A rs45517404
NM_000548.5(TSC2):c.5161-1G>C rs45517404
NM_000548.5(TSC2):c.5161-1G>T rs45517404
NM_000548.5(TSC2):c.5161-2A>G rs1114167468
NM_000548.5(TSC2):c.5161del (p.Met1721fs) rs137854251
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter) rs1060499676
NM_000548.5(TSC2):c.5169dup (p.Gln1724fs) rs1555440437
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter) rs45472701
NM_000548.5(TSC2):c.5174_5175dup (p.His1726fs) rs2151628196
NM_000548.5(TSC2):c.5196_5199del (p.Thr1733fs)
NM_000548.5(TSC2):c.51dup (p.Leu18fs)
NM_000548.5(TSC2):c.5203dup (p.Ile1735fs) rs886041940
NM_000548.5(TSC2):c.5204_5207del (p.Ile1735fs)
NM_000548.5(TSC2):c.5204_5207dup (p.Pro1737fs) rs397515053
NM_000548.5(TSC2):c.5208C>A (p.Tyr1736Ter) rs45517410
NM_000548.5(TSC2):c.5211dup (p.Ser1738fs) rs2151630268
NM_000548.5(TSC2):c.5212del (p.Ser1738fs) rs1596460606
NM_000548.5(TSC2):c.5214del (p.Lys1739fs) rs397515139
NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter) rs137854219
NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter) rs45517411
NM_000548.5(TSC2):c.5220dup (p.Ile1741fs)
NM_000548.5(TSC2):c.5226_5243del (p.His1746_Arg1751del) rs2151631183
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5228G>C (p.Arg1743Pro) rs45507199
NM_000548.5(TSC2):c.5234_5241del (p.Arg1745fs) rs2091147162
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5239_5256del (p.Ile1747_Gln1752del) rs2151632008
NM_000548.5(TSC2):c.5252_5259+19del rs137854397
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.5262del (p.Cys1755fs) rs796053507
NM_000548.5(TSC2):c.5266del (p.Glu1756fs) rs878854118
NM_000548.5(TSC2):c.5281_5296del (p.Ser1761fs) rs1064792923
NM_000548.5(TSC2):c.5289del (p.Ser1764fs) rs1555441221
NM_000548.5(TSC2):c.536_537del (p.Val179fs)
NM_000548.5(TSC2):c.5377_5378insT (p.Arg1793fs) rs2151641918
NM_000548.5(TSC2):c.5377dup (p.Arg1793fs) rs2151641893
NM_000548.5(TSC2):c.5389_5392dup (p.Ser1798fs) rs1085307666
NM_000548.5(TSC2):c.5393_*57del (p.Ser1798fs) rs1567135103
NM_000548.5(TSC2):c.5402_5403del (p.Glu1801fs) rs397514972
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?) rs137854027
NM_000548.5(TSC2):c.548_553del (p.Leu183_Lys185delinsTer)
NM_000548.5(TSC2):c.567T>A (p.Cys189Ter) rs2085669104
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter) rs137854359
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter) rs45517112
NM_000548.5(TSC2):c.581dup (p.Tyr194Ter) rs1555498221
NM_000548.5(TSC2):c.582C>G (p.Tyr194Ter) rs750174170
NM_000548.5(TSC2):c.595del (p.Val199fs) rs2151061858
NM_000548.5(TSC2):c.598C>T (p.Gln200Ter) rs45517115
NM_000548.5(TSC2):c.599+1G>A rs45460895
NM_000548.5(TSC2):c.599+2T>A
NM_000548.5(TSC2):c.599+2T>G rs45484992
NM_000548.5(TSC2):c.600-124G>A rs2151069014
NM_000548.5(TSC2):c.600-1G>A rs45517117
NM_000548.5(TSC2):c.600-2A>T rs45468592
NM_000548.5(TSC2):c.618del (p.Cys206fs) rs2151070992
NM_000548.5(TSC2):c.644_645del (p.Ile215fs)
NM_000548.5(TSC2):c.645_648del (p.Ile215fs) rs1596275494
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter) rs45517118
NM_000548.5(TSC2):c.648+1G>A rs45488893
NM_000548.5(TSC2):c.649-1G>C rs794727906
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro) rs397515249
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter) rs45517119
NM_000548.5(TSC2):c.683dup (p.Tyr228Ter) rs1567408314
NM_000548.5(TSC2):c.690C>A (p.Cys230Ter)
NM_000548.5(TSC2):c.691_692dup (p.Pro232fs) rs2151078913
NM_000548.5(TSC2):c.697del (p.Ala233fs)
NM_000548.5(TSC2):c.706dup (p.Leu236fs)
NM_000548.5(TSC2):c.710dup (p.Leu238fs) rs397515166
NM_000548.5(TSC2):c.724dup (p.Thr242fs) rs397515256
NM_000548.5(TSC2):c.730T>C (p.Cys244Arg) rs137854101
NM_000548.5(TSC2):c.751G>T (p.Glu251Ter) rs1114167465
NM_000548.5(TSC2):c.756_757dup (p.Cys253fs)
NM_000548.5(TSC2):c.759C>A (p.Cys253Ter) rs45517125
NM_000548.5(TSC2):c.765_766dup (p.Cys256fs) rs1567409292
NM_000548.5(TSC2):c.766del (p.Cys256fs) rs1567409292
NM_000548.5(TSC2):c.769del (p.Trp257fs) rs2085898708
NM_000548.5(TSC2):c.770G>A (p.Trp257Ter)
NM_000548.5(TSC2):c.774+1G>A rs45517128
NM_000548.5(TSC2):c.774+1G>T rs45517128
NM_000548.5(TSC2):c.774+2T>A rs45517129
NM_000548.5(TSC2):c.774+2T>C
NM_000548.5(TSC2):c.775-1G>C rs45454192
NM_000548.5(TSC2):c.775-2del rs2085953535
NM_000548.5(TSC2):c.782_783insT (p.Asn262fs) rs2085955298
NM_000548.5(TSC2):c.784_794dup (p.His267fs)
NM_000548.5(TSC2):c.810_811dup (p.Ser271fs) rs2151087352
NM_000548.5(TSC2):c.824dup (p.Asn275fs) rs886041922
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977
NM_000548.5(TSC2):c.832dup (p.His278fs) rs137854020
NM_000548.5(TSC2):c.848+1G>A rs45466296
NM_000548.5(TSC2):c.848+281C>T rs45517132
NM_000548.5(TSC2):c.848+2T>G rs1555499119
NM_000548.5(TSC2):c.849-1G>A rs45506396
NM_000548.5(TSC2):c.849-1G>C rs45506396
NM_000548.5(TSC2):c.849-2A>C
NM_000548.5(TSC2):c.852del (p.Tyr285fs)
NM_000548.5(TSC2):c.855C>G (p.Tyr285Ter) rs794726983
NM_000548.5(TSC2):c.871dup (p.Leu291fs) rs137854052
NM_000548.5(TSC2):c.87_105del (p.Ser30fs) rs1596234235
NM_000548.5(TSC2):c.880G>A (p.Gly294Arg) rs45517139
NM_000548.5(TSC2):c.894del (p.Phe298fs)
NM_000548.5(TSC2):c.894dup (p.Val299fs) rs137854024
NM_000548.5(TSC2):c.909_928del (p.Trp304fs) rs137854012
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter) rs45517140
NM_000548.5(TSC2):c.914del (p.Gly305fs) rs2086233936
NM_000548.5(TSC2):c.916del (p.Ala306fs)
NM_000548.5(TSC2):c.924del (p.Leu309fs) rs2151108081
NM_000548.5(TSC2):c.930T>A (p.Tyr310Ter) rs886041758
NM_000548.5(TSC2):c.935_936del (p.Leu312fs) rs1596288988
NM_000548.5(TSC2):c.965C>A (p.Ser322Ter) rs1345813917
NM_000548.5(TSC2):c.96_106del (p.Glu32fs)
NM_000548.5(TSC2):c.970_973dup (p.Gln325fs)
NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter) rs45517143
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter) rs397515097
NM_000548.5(TSC2):c.974_975del (p.Gln325fs)
NM_000548.5(TSC2):c.975+1G>A rs137854200
NM_000548.5(TSC2):c.975+1G>T rs137854200
NM_000548.5(TSC2):c.975+2T>C rs2151110209
NM_000548.5(TSC2):c.976-15G>A rs45517150
NM_000548.5(TSC2):c.976-1G>A rs45451199
NM_000548.5(TSC2):c.979_980dup (p.Met327fs) rs397515176
NM_000548.5(TSC2):c.979dup (p.Met327fs) rs2151134473
NM_000548.5(TSC2):c.987T>A (p.Cys329Ter) rs2151134671
NM_000548.5(TSC2):c.993del (p.Asn331fs) rs1596298137
NM_000548.5(TSC2):c.994G>T (p.Glu332Ter)
NM_000548.5(TSC2):c.[4570-18_4570-6del;4570-5CA[3]]
NM_000548.5:c.(1716+1_1717-1)_(2545+1_2546-1)del
Single allele

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