ClinVar Miner

List of variants reported as likely benign for Tuberous sclerosis syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 656
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_000548.5(TSC2):c.2239C>T (p.Leu747=) rs45517221 0.00480
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923 0.00468
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875 0.00415
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071 0.00209
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000548.5(TSC2):c.3815-15G>A rs45480591 0.00149
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00122
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792 0.00116
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_000548.5(TSC2):c.2838-4A>G rs45517272 0.00084
NM_000548.5(TSC2):c.-72T>A rs543752709 0.00083
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988 0.00077
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739 0.00076
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00071
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171 0.00067
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903 0.00067
NM_000548.5(TSC2):c.2742+13C>T rs45517260 0.00065
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) rs200494044 0.00061
NM_000548.5(TSC2):c.2640-13C>T rs201184637 0.00052
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000548.5(TSC2):c.975+13C>T rs200564575 0.00051
NM_000548.5(TSC2):c.1821G>A (p.Ala607=) rs149543046 0.00050
NM_000548.5(TSC2):c.1839+6G>A rs45517204 0.00046
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_000368.5(TSC1):c.1773G>A (p.Pro591=) rs146578402 0.00040
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155 0.00036
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000548.5(TSC2):c.4272C>T (p.Asp1424=) rs371541319 0.00032
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148 0.00030
NM_000368.5(TSC1):c.2626-4T>C rs777386691 0.00029
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=) rs139507276 0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307 0.00027
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00026
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493 0.00022
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638 0.00021
NM_000548.5(TSC2):c.1377C>T (p.Gly459=) rs45517170 0.00019
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691 0.00019
NM_000548.5(TSC2):c.3892G>A (p.Val1298Met) rs147284943 0.00019
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=) rs144965811 0.00019
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895 0.00018
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084 0.00018
NM_000548.5(TSC2):c.148A>G (p.Met50Val) rs140618379 0.00017
NM_000548.5(TSC2):c.2356-15T>A rs189674303 0.00016
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=) rs182327684 0.00016
NM_000548.5(TSC2):c.552C>T (p.Val184=) rs199991910 0.00016
NM_000548.5(TSC2):c.2743-7C>G rs566118686 0.00015
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100 0.00015
NM_000548.5(TSC2):c.2451C>T (p.Asp817=) rs201442542 0.00012
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481 0.00012
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421 0.00011
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=) rs367703283 0.00011
NM_000548.5(TSC2):c.*5G>A rs201342697 0.00010
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331 0.00010
NM_000548.5(TSC2):c.4620C>T (p.Tyr1540=) rs45455897 0.00010
NM_000368.5(TSC1):c.1438+6G>A rs118203530 0.00009
NM_000548.5(TSC2):c.1203C>T (p.His401=) rs199665674 0.00009
NM_000548.5(TSC2):c.3990G>A (p.Thr1330=) rs369943684 0.00009
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152 0.00009
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042 0.00009
NM_000548.5(TSC2):c.4008G>A (p.Ser1336=) rs760704956 0.00007
NM_000548.5(TSC2):c.4521C>T (p.Ser1507=) rs140081676 0.00007
NM_000548.5(TSC2):c.5334A>G (p.Ala1778=) rs371580877 0.00007
NM_000548.5(TSC2):c.630G>A (p.Ala210=) rs567756494 0.00007
NM_000368.5(TSC1):c.1209G>A (p.Ser403=) rs141184479 0.00006
NM_000548.5(TSC2):c.1717-15G>T rs372949465 0.00006
NM_000548.5(TSC2):c.2546-6C>T rs372088609 0.00006
NM_000548.5(TSC2):c.3327G>A (p.Pro1109=) rs45478393 0.00006
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=) rs557648435 0.00006
NM_000548.5(TSC2):c.363C>T (p.Ala121=) rs45517106 0.00006
NM_000548.5(TSC2):c.399C>T (p.Asn133=) rs746704620 0.00006
NM_000548.5(TSC2):c.4533C>T (p.Gly1511=) rs201126835 0.00006
NM_000548.5(TSC2):c.4794C>T (p.Asp1598=) rs548102930 0.00006
NM_000548.5(TSC2):c.618C>T (p.Cys206=) rs45498496 0.00006
NM_000548.5(TSC2):c.708C>T (p.Leu236=) rs756121647 0.00006
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu) rs751126355 0.00005
NM_000368.5(TSC1):c.618T>C (p.His206=) rs118203415 0.00005
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg) rs375144225 0.00005
NM_000548.5(TSC2):c.*44T>C rs188991734 0.00005
NM_000548.5(TSC2):c.1293G>A (p.Ala431=) rs45517162 0.00005
NM_000548.5(TSC2):c.282G>A (p.Pro94=) rs145624233 0.00005
NM_000548.5(TSC2):c.4849+13G>A rs780953278 0.00005
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=) rs142085017 0.00005
NM_000548.5(TSC2):c.669C>T (p.Asp223=) rs35501344 0.00005
NM_000368.5(TSC1):c.1884A>G (p.Leu628=) rs1038140620 0.00004
NM_000368.5(TSC1):c.2478G>C (p.Leu826=) rs149719514 0.00004
NM_000368.5(TSC1):c.2922C>T (p.Leu974=) rs769389702 0.00004
NM_000368.5(TSC1):c.912T>C (p.Tyr304=) rs118203466 0.00004
NM_000548.5(TSC2):c.1095C>T (p.Ile365=) rs757135168 0.00004
NM_000548.5(TSC2):c.1245G>A (p.Ala415=) rs757325185 0.00004
NM_000548.5(TSC2):c.1365C>T (p.Ser455=) rs34567401 0.00004
NM_000548.5(TSC2):c.1600-9T>C rs886043268 0.00004
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761 0.00004
NM_000548.5(TSC2):c.2049C>T (p.Ser683=) rs569518378 0.00004
NM_000548.5(TSC2):c.2859C>T (p.Pro953=) rs397514968 0.00004
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790 0.00004
NM_000548.5(TSC2):c.2967-6C>T rs200746335 0.00004
NM_000548.5(TSC2):c.3870C>T (p.Ser1290=) rs754466663 0.00004
NM_000548.5(TSC2):c.3981C>T (p.Asp1327=) rs876659087 0.00004
NM_000548.5(TSC2):c.4392C>T (p.Ser1464=) rs528080018 0.00004
NM_000548.5(TSC2):c.4410C>T (p.Arg1470=) rs539032553 0.00004
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=) rs758374702 0.00004
NM_000548.5(TSC2):c.465C>T (p.Tyr155=) rs45444196 0.00004
NM_000548.5(TSC2):c.5034C>T (p.Tyr1678=) rs45467993 0.00004
NM_000548.5(TSC2):c.5313G>A (p.Pro1771=) rs765607686 0.00004
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=) rs370820622 0.00004
NM_000548.5(TSC2):c.585C>T (p.Ile195=) rs397515309 0.00004
NM_000548.5(TSC2):c.989C>T (p.Pro330Leu) rs140910086 0.00004
NM_000368.4(TSC1):c.-242G>T rs571288003 0.00003
NM_000368.5(TSC1):c.-11C>T rs570705364 0.00003
NM_000368.5(TSC1):c.1344T>G (p.Pro448=) rs530908428 0.00003
NM_000368.5(TSC1):c.1878G>A (p.Glu626=) rs753424167 0.00003
NM_000368.5(TSC1):c.2700G>A (p.Gln900=) rs560986491 0.00003
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys) rs200398750 0.00003
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val) rs202121327 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000368.5(TSC1):c.762T>C (p.Asp254=) rs780005416 0.00003
NM_000368.5(TSC1):c.87T>C (p.Phe29=) rs745384145 0.00003
NM_000368.5(TSC1):c.942G>A (p.Thr314=) rs144208203 0.00003
NM_000548.5(TSC2):c.1029C>A (p.Thr343=) rs45468201 0.00003
NM_000548.5(TSC2):c.108G>A (p.Thr36=) rs781075483 0.00003
NM_000548.5(TSC2):c.1150G>A (p.Val384Ile) rs397514881 0.00003
NM_000548.5(TSC2):c.1308G>A (p.Pro436=) rs753764275 0.00003
NM_000548.5(TSC2):c.1317C>T (p.Asp439=) rs777457815 0.00003
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu) rs587778729 0.00003
NM_000548.5(TSC2):c.1627C>T (p.Pro543Ser) rs1060500944 0.00003
NM_000548.5(TSC2):c.1815A>G (p.Pro605=) rs961687056 0.00003
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln) rs45517206 0.00003
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp) rs766451267 0.00003
NM_000548.5(TSC2):c.2013C>A (p.Gly671=) rs566848799 0.00003
NM_000548.5(TSC2):c.2019G>A (p.Ala673=) rs772993105 0.00003
NM_000548.5(TSC2):c.201C>T (p.Val67=) rs45460096 0.00003
NM_000548.5(TSC2):c.2097+13G>A rs367915255 0.00003
NM_000548.5(TSC2):c.2098-13C>T rs375903453 0.00003
NM_000548.5(TSC2):c.2760C>A (p.Val920=) rs149490538 0.00003
NM_000548.5(TSC2):c.297C>T (p.His99=) rs752498350 0.00003
NM_000548.5(TSC2):c.3018C>T (p.Asn1006=) rs45471697 0.00003
NM_000548.5(TSC2):c.3159G>A (p.Ala1053=) rs765689518 0.00003
NM_000548.5(TSC2):c.3240A>G (p.Leu1080=) rs371514669 0.00003
NM_000548.5(TSC2):c.3342C>T (p.Ser1114=) rs755871381 0.00003
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=) rs769562717 0.00003
NM_000548.5(TSC2):c.3585G>A (p.Ala1195=) rs761232933 0.00003
NM_000548.5(TSC2):c.3663G>A (p.Ser1221=) rs137854268 0.00003
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=) rs749057825 0.00003
NM_000548.5(TSC2):c.4194C>T (p.Leu1398=) rs1060504106 0.00003
NM_000548.5(TSC2):c.4446C>T (p.Ser1482=) rs780955293 0.00003
NM_000548.5(TSC2):c.450G>A (p.Gly150=) rs372000734 0.00003
NM_000548.5(TSC2):c.4602C>T (p.Leu1534=) rs368534883 0.00003
NM_000548.5(TSC2):c.4663-14C>T rs397515174 0.00003
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=) rs397515103 0.00003
NM_000548.5(TSC2):c.493C>T (p.Leu165=) rs758521946 0.00003
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile) rs45490993 0.00003
NM_000548.5(TSC2):c.5328C>T (p.Ala1776=) rs757292336 0.00003
NM_000548.5(TSC2):c.627C>T (p.Thr209=) rs776293094 0.00003
NM_000548.5(TSC2):c.672C>T (p.Ala224=) rs138897064 0.00003
NM_000548.5(TSC2):c.711G>A (p.Pro237=) rs189380607 0.00003
NM_000548.5(TSC2):c.849-9dup rs764626623 0.00003
NM_000548.5(TSC2):c.864C>T (p.Asp288=) rs780887572 0.00003
NM_000368.5(TSC1):c.111T>C (p.Arg37=) rs966292723 0.00002
NM_000368.5(TSC1):c.1273A>G (p.Met425Val) rs753199284 0.00002
NM_000368.5(TSC1):c.167C>T (p.Pro56Leu) rs750512029 0.00002
NM_000368.5(TSC1):c.2034C>T (p.His678=) rs201392975 0.00002
NM_000368.5(TSC1):c.2424G>A (p.Ala808=) rs200651872 0.00002
NM_000368.5(TSC1):c.2976-14C>T rs368652971 0.00002
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=) rs765753157 0.00002
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=) rs118203746 0.00002
NM_000368.5(TSC1):c.3396C>T (p.Pro1132=) rs774980129 0.00002
NM_000368.5(TSC1):c.364-7C>T rs775465260 0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=) rs202242304 0.00002
NM_000548.5(TSC2):c.1071G>A (p.Ala357=) rs776395163 0.00002
NM_000548.5(TSC2):c.139-6C>T rs778516569 0.00002
NM_000548.5(TSC2):c.1458C>T (p.Asn486=) rs200532154 0.00002
NM_000548.5(TSC2):c.2310G>C (p.Leu770=) rs772380298 0.00002
NM_000548.5(TSC2):c.2358C>T (p.Arg786=) rs372834284 0.00002
NM_000548.5(TSC2):c.2404A>G (p.Ser802Gly) rs200929621 0.00002
NM_000548.5(TSC2):c.2628C>T (p.Thr876=) rs778678783 0.00002
NM_000548.5(TSC2):c.270G>A (p.Gln90=) rs779310889 0.00002
NM_000548.5(TSC2):c.3039T>C (p.Asp1013=) rs149098424 0.00002
NM_000548.5(TSC2):c.3117G>A (p.Thr1039=) rs747104674 0.00002
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=) rs754951889 0.00002
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=) rs749633483 0.00002
NM_000548.5(TSC2):c.354C>G (p.Val118=) rs762228318 0.00002
NM_000548.5(TSC2):c.411C>T (p.His137=) rs776129896 0.00002
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=) rs911307922 0.00002
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=) rs886051794 0.00002
NM_000548.5(TSC2):c.4440A>G (p.Leu1480=) rs756991335 0.00002
NM_000548.5(TSC2):c.4461C>T (p.Ser1487=) rs777104003 0.00002
NM_000548.5(TSC2):c.4494-10C>T rs753499012 0.00002
NM_000548.5(TSC2):c.482-14C>T rs757054946 0.00002
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn) rs137853999 0.00002
NM_000548.5(TSC2):c.5004T>C (p.Phe1668=) rs745787082 0.00002
NM_000548.5(TSC2):c.5112T>A (p.Ser1704=) rs769158004 0.00002
NM_000548.5(TSC2):c.5260-9T>C rs775095745 0.00002
NM_000548.5(TSC2):c.5274C>T (p.Ala1758=) rs752945858 0.00002
NM_000548.5(TSC2):c.5412C>T (p.Thr1804=) rs397515252 0.00002
NM_000548.5(TSC2):c.5415G>A (p.Glu1805=) rs982803529 0.00002
NM_000548.5(TSC2):c.623G>A (p.Arg208Gln) rs368386966 0.00002
NM_000548.5(TSC2):c.651C>G (p.Val217=) rs780004703 0.00002
NM_000548.5(TSC2):c.721G>A (p.Val241Ile) rs200943828 0.00002
NM_000548.5(TSC2):c.735C>T (p.Arg245=) rs763419528 0.00002
NM_000548.5(TSC2):c.945G>A (p.Ser315=) rs763948768 0.00002
NM_000548.5(TSC2):c.993C>T (p.Asn331=) rs45517153 0.00002
NM_000368.5(TSC1):c.1050T>C (p.Ser350=) rs150777389 0.00001
NM_000368.5(TSC1):c.1116T>C (p.Pro372=) rs1311647964 0.00001
NM_000368.5(TSC1):c.1191A>G (p.Pro397=) rs370281825 0.00001
NM_000368.5(TSC1):c.1200C>G (p.Leu400=) rs767514820 0.00001
NM_000368.5(TSC1):c.133T>C (p.Leu45=) rs755226092 0.00001
NM_000368.5(TSC1):c.1590C>T (p.Ser530=) rs762424091 0.00001
NM_000368.5(TSC1):c.1626G>A (p.Lys542=) rs756935981 0.00001
NM_000368.5(TSC1):c.168G>A (p.Pro56=) rs781483110 0.00001
NM_000368.5(TSC1):c.1795G>A (p.Gly599Arg) rs761959210 0.00001
NM_000368.5(TSC1):c.1809G>A (p.Pro603=) rs112434645 0.00001
NM_000368.5(TSC1):c.1882T>C (p.Leu628=) rs375534013 0.00001
NM_000368.5(TSC1):c.2064C>T (p.Ile688=) rs878853963 0.00001
NM_000368.5(TSC1):c.2085G>A (p.Leu695=) rs767518902 0.00001
NM_000368.5(TSC1):c.2196T>C (p.His732=) rs776441369 0.00001
NM_000368.5(TSC1):c.2268A>G (p.Lys756=) rs760004541 0.00001
NM_000368.5(TSC1):c.2392-14G>A rs1057524717 0.00001
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val) rs751128287 0.00001
NM_000368.5(TSC1):c.2520G>A (p.Ser840=) rs547498792 0.00001
NM_000368.5(TSC1):c.2604C>T (p.Asn868=) rs147163264 0.00001
NM_000368.5(TSC1):c.2766T>C (p.Leu922=) rs546119844 0.00001
NM_000368.5(TSC1):c.2766T>G (p.Leu922=) rs546119844 0.00001
NM_000368.5(TSC1):c.2814-9A>G rs878853965 0.00001
NM_000368.5(TSC1):c.2878T>C (p.Leu960=) rs766383986 0.00001
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val) rs397514859 0.00001
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=) rs878853966 0.00001
NM_000368.5(TSC1):c.3228C>T (p.Thr1076=) rs140622357 0.00001
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=) rs118203752 0.00001
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=) rs1157060310 0.00001
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=) rs763931959 0.00001
NM_000368.5(TSC1):c.45C>T (p.Asp15=) rs1457262106 0.00001
NM_000368.5(TSC1):c.51C>G (p.Pro17=) rs768175095 0.00001
NM_000368.5(TSC1):c.555C>T (p.Tyr185=) rs118203398 0.00001
NM_000368.5(TSC1):c.737+6G>A rs567909130 0.00001
NM_000368.5(TSC1):c.771C>T (p.Ile257=) rs1060504854 0.00001
NM_000368.5(TSC1):c.873T>C (p.Asp291=) rs753928162 0.00001
NM_000548.5(TSC2):c.*4C>T rs368282661 0.00001
NM_000548.5(TSC2):c.1035C>A (p.Leu345=) rs1476429068 0.00001
NM_000548.5(TSC2):c.1116C>T (p.Leu372=) rs587780973 0.00001
NM_000548.5(TSC2):c.1146C>A (p.Thr382=) rs887128869 0.00001
NM_000548.5(TSC2):c.1194C>T (p.Asn398=) rs369172347 0.00001
NM_000548.5(TSC2):c.123C>T (p.Thr41=) rs1060504100 0.00001
NM_000548.5(TSC2):c.1401C>T (p.Asp467=) rs1433989426 0.00001
NM_000548.5(TSC2):c.1444-9C>T rs780055493 0.00001
NM_000548.5(TSC2):c.1450C>T (p.Leu484=) rs2087007486 0.00001
NM_000548.5(TSC2):c.1494G>A (p.Glu498=) rs780112077 0.00001
NM_000548.5(TSC2):c.1584G>A (p.Leu528=) rs1478821497 0.00001
NM_000548.5(TSC2):c.1600-4A>C rs1164295969 0.00001
NM_000548.5(TSC2):c.1653C>T (p.Ala551=) rs202171361 0.00001
NM_000548.5(TSC2):c.1662G>A (p.Ser554=) rs775617895 0.00001
NM_000548.5(TSC2):c.1686A>T (p.Thr562=) rs755900760 0.00001
NM_000548.5(TSC2):c.1689C>T (p.Ala563=) rs779858018 0.00001
NM_000548.5(TSC2):c.1717-14T>C rs780658386 0.00001
NM_000548.5(TSC2):c.1717-4del rs1362347834 0.00001
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=) rs45509094 0.00001
NM_000548.5(TSC2):c.1833G>A (p.Arg611=) rs1270155533 0.00001
NM_000548.5(TSC2):c.1854G>C (p.Leu618=) rs1060504088 0.00001
NM_000548.5(TSC2):c.1863G>A (p.Leu621=) rs1485599658 0.00001
NM_000548.5(TSC2):c.1911C>T (p.Val637=) rs543584836 0.00001
NM_000548.5(TSC2):c.1944C>T (p.Tyr648=) rs878925198 0.00001
NM_000548.5(TSC2):c.1945A>G (p.Met649Val) rs762331610 0.00001
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=) rs1186913814 0.00001
NM_000548.5(TSC2):c.2079G>C (p.Leu693=) rs764932531 0.00001
NM_000548.5(TSC2):c.2098-4G>T rs1306044216 0.00001
NM_000548.5(TSC2):c.2166C>T (p.Leu722=) rs1009050362 0.00001
NM_000548.5(TSC2):c.2238A>G (p.Thr746=) rs1060504115 0.00001
NM_000548.5(TSC2):c.2256C>T (p.Gly752=) rs778981034 0.00001
NM_000548.5(TSC2):c.2298G>C (p.Val766=) rs1157138703 0.00001
NM_000548.5(TSC2):c.2331T>C (p.His777=) rs139963953 0.00001
NM_000548.5(TSC2):c.2351A>G (p.Lys784Arg) rs1489548085 0.00001
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile) rs779472379 0.00001
NM_000548.5(TSC2):c.2436C>T (p.Ser812=) rs767178958 0.00001
NM_000548.5(TSC2):c.2454C>T (p.Ile818=) rs786201599 0.00001
NM_000548.5(TSC2):c.2467C>T (p.Leu823=) rs554509064 0.00001
NM_000548.5(TSC2):c.2553C>T (p.Ala851=) rs745687916 0.00001
NM_000548.5(TSC2):c.2598C>T (p.Ala866=) rs1395372159 0.00001
NM_000548.5(TSC2):c.2607C>T (p.Phe869=) rs750336814 0.00001
NM_000548.5(TSC2):c.2625C>T (p.Tyr875=) rs1475326651 0.00001
NM_000548.5(TSC2):c.2662C>T (p.Leu888=) rs765057258 0.00001
NM_000548.5(TSC2):c.2736C>T (p.Ile912=) rs1366613803 0.00001
NM_000548.5(TSC2):c.273G>A (p.Pro91=) rs772296140 0.00001
NM_000548.5(TSC2):c.2748G>A (p.Leu916=) rs757674443 0.00001
NM_000548.5(TSC2):c.2766G>A (p.Leu922=) rs772858520 0.00001
NM_000548.5(TSC2):c.2844G>A (p.Arg948=) rs1060504114 0.00001
NM_000548.5(TSC2):c.2886C>T (p.Pro962=) rs140202176 0.00001
NM_000548.5(TSC2):c.2967-10C>T rs1322718501 0.00001
NM_000548.5(TSC2):c.2967-8C>T rs1060504085 0.00001
NM_000548.5(TSC2):c.2997C>T (p.Ser999=) rs893757571 0.00001
NM_000548.5(TSC2):c.3021C>T (p.Ser1007=) rs201516931 0.00001
NM_000548.5(TSC2):c.3057C>T (p.His1019=) rs1060504102 0.00001
NM_000548.5(TSC2):c.3132-11C>T rs2089819486 0.00001
NM_000548.5(TSC2):c.3201C>G (p.Val1067=) rs781532053 0.00001
NM_000548.5(TSC2):c.3216C>T (p.Ser1072=) rs1306234469 0.00001
NM_000548.5(TSC2):c.327G>A (p.Val109=) rs754348511 0.00001
NM_000548.5(TSC2):c.3285C>T (p.Ser1095=) rs745446277 0.00001
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=) rs150126331 0.00001
NM_000548.5(TSC2):c.3318G>A (p.Lys1106=) rs1060504119 0.00001
NM_000548.5(TSC2):c.337-3T>C rs770515822 0.00001
NM_000548.5(TSC2):c.3390C>T (p.Ser1130=) rs867238767 0.00001
NM_000548.5(TSC2):c.339C>A (p.Gly113=) rs368451664 0.00001
NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln) rs368666554 0.00001
NM_000548.5(TSC2):c.3528T>C (p.Pro1176=) rs1157894225 0.00001
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=) rs139313964 0.00001
NM_000548.5(TSC2):c.3555C>T (p.Ala1185=) rs745762286 0.00001
NM_000548.5(TSC2):c.3570G>A (p.Leu1190=) rs1366398727 0.00001
NM_000548.5(TSC2):c.3594G>A (p.Leu1198=) rs202114637 0.00001
NM_000548.5(TSC2):c.3648C>T (p.Leu1216=) rs777246414 0.00001
NM_000548.5(TSC2):c.3682C>T (p.Leu1228=) rs938124834 0.00001
NM_000548.5(TSC2):c.3690G>A (p.Glu1230=) rs876659207 0.00001
NM_000548.5(TSC2):c.3696T>C (p.Ser1232=) rs767812115 0.00001
NM_000548.5(TSC2):c.3699C>T (p.Asn1233=) rs773240506 0.00001
NM_000548.5(TSC2):c.3705C>T (p.Leu1235=) rs1386839308 0.00001
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=) rs786202178 0.00001
NM_000548.5(TSC2):c.3780G>A (p.Thr1260=) rs199742312 0.00001
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) rs200577441 0.00001
NM_000548.5(TSC2):c.408T>G (p.Leu136=) rs1037058497 0.00001
NM_000548.5(TSC2):c.4146G>A (p.Leu1382=) rs1162436739 0.00001
NM_000548.5(TSC2):c.4182G>A (p.Leu1394=) rs1191824850 0.00001
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=) rs1285012780 0.00001
NM_000548.5(TSC2):c.4282G>A (p.Ala1428Thr) rs764533757 0.00001
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=) rs536527623 0.00001
NM_000548.5(TSC2):c.4425A>C (p.Val1475=) rs878854106 0.00001
NM_000548.5(TSC2):c.4454C>T (p.Thr1485Ile) rs772667717 0.00001
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=) rs761248238 0.00001
NM_000548.5(TSC2):c.4494-15C>T rs993595235 0.00001
NM_000548.5(TSC2):c.4503C>T (p.Phe1501=) rs778332133 0.00001
NM_000548.5(TSC2):c.4555C>T (p.Leu1519=) rs958487832 0.00001
NM_000548.5(TSC2):c.4557G>T (p.Leu1519=) rs1260508226 0.00001
NM_000548.5(TSC2):c.4617A>G (p.Ser1539=) rs201038907 0.00001
NM_000548.5(TSC2):c.4635C>T (p.Ile1545=) rs757388437 0.00001
NM_000548.5(TSC2):c.4677C>T (p.Leu1559=) rs45517361 0.00001
NM_000548.5(TSC2):c.4692T>C (p.Asn1564=) rs774664591 0.00001
NM_000548.5(TSC2):c.4704C>T (p.Ser1568=) rs916198158 0.00001
NM_000548.5(TSC2):c.4707C>T (p.Tyr1569=) rs397515277 0.00001
NM_000548.5(TSC2):c.4719G>A (p.Glu1573=) rs766665967 0.00001
NM_000548.5(TSC2):c.4914G>A (p.Lys1638=) rs137854094 0.00001
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=) rs876658185 0.00001
NM_000548.5(TSC2):c.5061C>T (p.Cys1687=) rs779923426 0.00001
NM_000548.5(TSC2):c.5097G>C (p.Val1699=) rs397515314 0.00001
NM_000548.5(TSC2):c.5109G>A (p.Val1703=) rs770413433 0.00001
NM_000548.5(TSC2):c.5161-6C>T rs1475029652 0.00001
NM_000548.5(TSC2):c.5196C>T (p.Pro1732=) rs910514279 0.00001
NM_000548.5(TSC2):c.5232C>T (p.Leu1744=) rs772865175 0.00001
NM_000548.5(TSC2):c.532C>T (p.Leu178=) rs1465941679 0.00001
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg) rs770117004 0.00001
NM_000548.5(TSC2):c.5423G>A (p.Ter1808=) rs762120606 0.00001
NM_000548.5(TSC2):c.573C>T (p.Leu191=) rs397515059 0.00001
NM_000548.5(TSC2):c.576C>T (p.Asp192=) rs761704292 0.00001
NM_000548.5(TSC2):c.600-13G>C rs45517116 0.00001
NM_000548.5(TSC2):c.696G>A (p.Pro232=) rs539797467 0.00001
NM_000548.5(TSC2):c.720C>T (p.Ile240=) rs45517123 0.00001
NM_000548.5(TSC2):c.768C>T (p.Cys256=) rs45517127 0.00001
NM_000548.5(TSC2):c.807C>T (p.Gly269=) rs1297815371 0.00001
NM_000548.5(TSC2):c.813C>T (p.Ser271=) rs752676212 0.00001
NM_000548.5(TSC2):c.822C>T (p.Tyr274=) rs1347972318 0.00001
NM_000548.5(TSC2):c.867G>A (p.Ala289=) rs375163125 0.00001
NM_000548.5(TSC2):c.879A>G (p.Arg293=) rs369222477 0.00001
NM_000548.5(TSC2):c.885C>T (p.Ala295=) rs778296481 0.00001
NM_000548.5(TSC2):c.951A>G (p.Thr317=) rs767275578 0.00001
NM_000548.5(TSC2):c.978C>G (p.Ala326=) rs1294670888 0.00001
NM_000548.5(TSC2):c.990G>A (p.Pro330=) rs752141469 0.00001
NM_000368.5(TSC1):c.*2228G>A rs528833042
NM_000368.5(TSC1):c.*2893del rs143549363
NM_000368.5(TSC1):c.*4631del rs60000611
NM_000368.5(TSC1):c.-10G>A
NM_000368.5(TSC1):c.1005A>G (p.Thr335=) rs753091213
NM_000368.5(TSC1):c.1030-14T>C
NM_000368.5(TSC1):c.1030-14del
NM_000368.5(TSC1):c.107-15C>T
NM_000368.5(TSC1):c.1206T>C (p.His402=) rs1845902050
NM_000368.5(TSC1):c.1257C>A (p.Pro419=) rs369642207
NM_000368.5(TSC1):c.12A>G (p.Gln4=) rs1588363707
NM_000368.5(TSC1):c.1350C>T (p.Ser450=) rs773780814
NM_000368.5(TSC1):c.138G>A (p.Val46=)
NM_000368.5(TSC1):c.1416T>C (p.Ser472=)
NM_000368.5(TSC1):c.1482A>G (p.Ala494=)
NM_000368.5(TSC1):c.1533T>C (p.Ser511=) rs1588310849
NM_000368.5(TSC1):c.1549C>A (p.Arg517=) rs1243886871
NM_000368.5(TSC1):c.1647G>A (p.Lys549=) rs2131835538
NM_000368.5(TSC1):c.1713A>G (p.Glu571=) rs1588309781
NM_000368.5(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.5(TSC1):c.1803T>A (p.Pro601=)
NM_000368.5(TSC1):c.1809G>C (p.Pro603=) rs112434645
NM_000368.5(TSC1):c.1830G>T (p.Val610=)
NM_000368.5(TSC1):c.1879C>T (p.Leu627=) rs1171110012
NM_000368.5(TSC1):c.1998-9T>C
NM_000368.5(TSC1):c.2031C>A (p.Thr677=) rs1060504855
NM_000368.5(TSC1):c.2079C>T (p.Asp693=)
NM_000368.5(TSC1):c.2286T>C (p.Asn762=) rs1554815010
NM_000368.5(TSC1):c.2370C>T (p.Tyr790=) rs1845442273
NM_000368.5(TSC1):c.2421T>A (p.Ile807=) rs754248661
NM_000368.5(TSC1):c.2478G>A (p.Leu826=) rs149719514
NM_000368.5(TSC1):c.2503-12T>C rs765263617
NM_000368.5(TSC1):c.2622A>G (p.Thr874=) rs2131684460
NM_000368.5(TSC1):c.2626-3_2626-2insT rs760737807
NM_000368.5(TSC1):c.2626-6_2626-5insTC rs1256355250
NM_000368.5(TSC1):c.2649C>G (p.Ala883=) rs1279318276
NM_000368.5(TSC1):c.2682T>C (p.His894=) rs771479673
NM_000368.5(TSC1):c.2760C>T (p.Asp920=) rs1226490074
NM_000368.5(TSC1):c.2904G>A (p.Arg968=) rs1554813280
NM_000368.5(TSC1):c.3069C>T (p.Pro1023=) rs1588287899
NM_000368.5(TSC1):c.3114C>T (p.Ser1038=) rs1588287598
NM_000368.5(TSC1):c.3264G>C (p.Leu1088=)
NM_000368.5(TSC1):c.3315T>C (p.Asp1105=)
NM_000368.5(TSC1):c.3361C>T (p.Leu1121=) rs769478982
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=) rs759431801
NM_000368.5(TSC1):c.3432C>G (p.Thr1144=) rs1588285980
NM_000368.5(TSC1):c.364-15C>T rs1846686000
NM_000368.5(TSC1):c.444A>G (p.Lys148=) rs2132189552
NM_000368.5(TSC1):c.509-14G>T rs984165284
NM_000368.5(TSC1):c.516G>A (p.Val172=) rs1419763219
NM_000368.5(TSC1):c.600C>A (p.Val200=)
NM_000368.5(TSC1):c.660C>T (p.Val220=) rs1588346808
NM_000368.5(TSC1):c.696A>G (p.Glu232=) rs1588345709
NM_000368.5(TSC1):c.738G>A (p.Arg246=) rs118203441
NM_000368.5(TSC1):c.747A>G (p.Arg249=)
NM_000368.5(TSC1):c.759T>C (p.His253=)
NM_000368.5(TSC1):c.81T>C (p.Ala27=) rs1588363327
NM_000368.5(TSC1):c.852C>T (p.Arg284=) rs769706203
NM_000368.5(TSC1):c.870C>T (p.Ala290=) rs779155575
NM_000368.5(TSC1):c.906T>C (p.Asn302=)
NM_000368.5(TSC1):c.90A>G (p.Lys30=) rs1847032608
NM_000368.5(TSC1):c.915G>A (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.915G>T (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.978A>G (p.Leu326=) rs1060504862
NM_000368.5(TSC1):c.9A>G (p.Gln3=) rs1588363733
NM_000548.5(TSC2):c.*55TAAA[1] rs137854184
NM_000548.5(TSC2):c.1002G>T (p.Val334=)
NM_000548.5(TSC2):c.1017C>G (p.Val339=)
NM_000548.5(TSC2):c.1086G>A (p.Leu362=) rs1416323572
NM_000548.5(TSC2):c.1092C>T (p.Ile364=) rs2151138326
NM_000548.5(TSC2):c.1098A>G (p.Glu366=)
NM_000548.5(TSC2):c.1101G>C (p.Arg367=) rs45517149
NM_000548.5(TSC2):c.1134G>A (p.Pro378=) rs754343186
NM_000548.5(TSC2):c.1146C>T (p.Thr382=) rs887128869
NM_000548.5(TSC2):c.1257+11del
NM_000548.5(TSC2):c.1308G>C (p.Pro436=) rs753764275
NM_000548.5(TSC2):c.133C>T (p.Leu45=) rs1555494707
NM_000548.5(TSC2):c.1362-4G>A rs397515145
NM_000548.5(TSC2):c.1383G>A (p.Val461=) rs760393399
NM_000548.5(TSC2):c.1419G>T (p.Leu473=)
NM_000548.5(TSC2):c.1444-12G>A rs566516726
NM_000548.5(TSC2):c.1444-14T>C rs45517173
NM_000548.5(TSC2):c.1444-15C>T
NM_000548.5(TSC2):c.1491C>T (p.Pro497=) rs781367910
NM_000548.5(TSC2):c.1557C>T (p.Cys519=)
NM_000548.5(TSC2):c.1569C>T (p.His523=) rs1420211177
NM_000548.5(TSC2):c.1579C>T (p.Leu527=) rs762173463
NM_000548.5(TSC2):c.1600-8C>T rs1555503101
NM_000548.5(TSC2):c.1633C>T (p.Leu545=) rs1060504103
NM_000548.5(TSC2):c.1758G>A (p.Val586=) rs1555505092
NM_000548.5(TSC2):c.1840-11C>T
NM_000548.5(TSC2):c.1840-4A>C rs1057523736
NM_000548.5(TSC2):c.1840-4A>G rs1057523736
NM_000548.5(TSC2):c.1869C>G (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1875A>C (p.Ser625=) rs1555505786
NM_000548.5(TSC2):c.1875A>G (p.Ser625=)
NM_000548.5(TSC2):c.1923C>T (p.Ser641=) rs1555505825
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile) rs746677177
NM_000548.5(TSC2):c.1947-4G>A rs201633455
NM_000548.5(TSC2):c.2001A>G (p.Thr667=) rs1412129753
NM_000548.5(TSC2):c.2016G>A (p.Pro672=) rs774517903
NM_000548.5(TSC2):c.2046G>T (p.Gly682=) rs749536123
NM_000548.5(TSC2):c.2049C>A (p.Ser683=) rs569518378
NM_000548.5(TSC2):c.2052G>A (p.Val684=)
NM_000548.5(TSC2):c.2061C>A (p.Ser687=) rs1596344926
NM_000548.5(TSC2):c.2062C>T (p.Leu688=) rs1479736808
NM_000548.5(TSC2):c.2067C>T (p.Leu689=) rs1060504107
NM_000548.5(TSC2):c.2089T>C (p.Leu697=) rs1596345177
NM_000548.5(TSC2):c.2098-14T>C
NM_000548.5(TSC2):c.2139G>C (p.Leu713=) rs757293747
NM_000548.5(TSC2):c.2178C>T (p.Ser726=) rs1380835459
NM_000548.5(TSC2):c.2184C>T (p.Cys728=) rs1555506557
NM_000548.5(TSC2):c.2193C>T (p.Asp731=) rs760053529
NM_000548.5(TSC2):c.2202C>T (p.Cys734=)
NM_000548.5(TSC2):c.2211C>T (p.Leu737=) rs369851248
NM_000548.5(TSC2):c.2221-14G>T
NM_000548.5(TSC2):c.2238A>C (p.Thr746=) rs1060504115
NM_000548.5(TSC2):c.226-3C>T
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2295C>G (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2307G>A (p.Val769=)
NM_000548.5(TSC2):c.2334C>T (p.Asn778=)
NM_000548.5(TSC2):c.2356-11G>C
NM_000548.5(TSC2):c.2373C>T (p.Cys791=)
NM_000548.5(TSC2):c.2397C>T (p.Arg799=) rs2151348621
NM_000548.5(TSC2):c.243C>G (p.Leu81=) rs751068235
NM_000548.5(TSC2):c.2490C>T (p.Leu830=) rs768573698
NM_000548.5(TSC2):c.2493G>A (p.Thr831=) rs773645613
NM_000548.5(TSC2):c.249G>A (p.Lys83=) rs1202653675
NM_000548.5(TSC2):c.2505C>T (p.Ala835=) rs1200802987
NM_000548.5(TSC2):c.2520C>T (p.Ala840=) rs147683438
NM_000548.5(TSC2):c.2538C>T (p.Phe846=) rs1360361868
NM_000548.5(TSC2):c.2546-15T>C rs371256839
NM_000548.5(TSC2):c.2547T>C (p.Thr849=) rs1596364841
NM_000548.5(TSC2):c.2613C>T (p.Ile871=) rs1555508408
NM_000548.5(TSC2):c.2628C>A (p.Thr876=)
NM_000548.5(TSC2):c.2649G>A (p.Gln883=)
NM_000548.5(TSC2):c.2700C>T (p.Cys900=)
NM_000548.5(TSC2):c.2703C>A (p.Arg901=)
NM_000548.5(TSC2):c.2760C>T (p.Val920=) rs149490538
NM_000548.5(TSC2):c.2772T>C (p.Phe924=)
NM_000548.5(TSC2):c.2784C>G (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.2787G>A (p.Glu929=) rs968144525
NM_000548.5(TSC2):c.2838-10C>T rs1596374422
NM_000548.5(TSC2):c.2838-123C>T
NM_000548.5(TSC2):c.2838-3T>C rs553942147
NM_000548.5(TSC2):c.2838-5G>A rs876660419
NM_000548.5(TSC2):c.2839C>T (p.Leu947=) rs2089574802
NM_000548.5(TSC2):c.2868C>T (p.Gly956=) rs141573736
NM_000548.5(TSC2):c.2916C>T (p.Ala972=) rs751474097
NM_000548.5(TSC2):c.2967-15G>C
NM_000548.5(TSC2):c.2985C>T (p.Leu995=) rs786203324
NM_000548.5(TSC2):c.3058C>T (p.Leu1020=) rs574318440
NM_000548.5(TSC2):c.3102C>T (p.Val1034=) rs562998574
NM_000548.5(TSC2):c.3210G>T (p.Thr1070=) rs539927192
NM_000548.5(TSC2):c.3238T>C (p.Leu1080=) rs1596384213
NM_000548.5(TSC2):c.3267G>A (p.Gln1089=) rs1555510717
NM_000548.5(TSC2):c.3321G>A (p.Glu1107=) rs1596385920
NM_000548.5(TSC2):c.3324G>A (p.Ala1108=) rs786203392
NM_000548.5(TSC2):c.3324G>T (p.Ala1108=) rs786203392
NM_000548.5(TSC2):c.337-5T>C
NM_000548.5(TSC2):c.3372C>T (p.Ala1124=) rs1555510963
NM_000548.5(TSC2):c.3381G>A (p.Arg1127=) rs1596386421
NM_000548.5(TSC2):c.3398-6C>T rs1555511284
NM_000548.5(TSC2):c.3459C>T (p.Ala1153=)
NM_000548.5(TSC2):c.3474A>G (p.Pro1158=)
NM_000548.5(TSC2):c.3483A>T (p.Ala1161=)
NM_000548.5(TSC2):c.3490G>T (p.Ala1164Ser) rs776579875
NM_000548.5(TSC2):c.3516C>T (p.Gly1172=) rs1555511474
NM_000548.5(TSC2):c.3546C>T (p.Asn1182=)
NM_000548.5(TSC2):c.354C>T (p.Val118=) rs762228318
NM_000548.5(TSC2):c.3555C>A (p.Ala1185=) rs745762286
NM_000548.5(TSC2):c.3565C>T (p.Leu1189=) rs796053476
NM_000548.5(TSC2):c.3606C>T (p.Pro1202=) rs772580979
NM_000548.5(TSC2):c.3645G>A (p.Pro1215=) rs758114962
NM_000548.5(TSC2):c.3687G>A (p.Gln1229=) rs140384709
NM_000548.5(TSC2):c.3729G>A (p.Glu1243=)
NM_000548.5(TSC2):c.372T>C (p.Phe124=) rs753922923
NM_000548.5(TSC2):c.3735G>A (p.Arg1245=) rs756959674
NM_000548.5(TSC2):c.3798G>A (p.Leu1266=) rs1187813837
NM_000548.5(TSC2):c.3815-14G>A
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.384G>A (p.Lys128=) rs748095129
NM_000548.5(TSC2):c.3855A>G (p.Gly1285=) rs891262541
NM_000548.5(TSC2):c.3867G>A (p.Arg1289=) rs1008733639
NM_000548.5(TSC2):c.3876C>G (p.Ser1292=)
NM_000548.5(TSC2):c.3876C>T (p.Ser1292=)
NM_000548.5(TSC2):c.3884-12G>A rs1282062597
NM_000548.5(TSC2):c.3884-8C>T rs397515219
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=) rs373508609
NM_000548.5(TSC2):c.3891C>T (p.Ala1297=) rs373508609
NM_000548.5(TSC2):c.3906G>A (p.Glu1302=) rs2151510679
NM_000548.5(TSC2):c.3936G>A (p.Val1312=) rs876659932
NM_000548.5(TSC2):c.3963G>A (p.Glu1321=) rs587778737
NM_000548.5(TSC2):c.3990G>T (p.Thr1330=) rs369943684
NM_000548.5(TSC2):c.3996C>A (p.Ala1332=) rs1421997373
NM_000548.5(TSC2):c.3996C>T (p.Ala1332=) rs1421997373
NM_000548.5(TSC2):c.4006-6T>C rs1060500953
NM_000548.5(TSC2):c.4017C>T (p.Val1339=) rs876658217
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg) rs45462593
NM_000548.5(TSC2):c.4041C>T (p.Leu1347=) rs1060504109
NM_000548.5(TSC2):c.4050G>A (p.Glu1350=) rs2090485089
NM_000548.5(TSC2):c.4107G>A (p.Arg1369=) rs201688447
NM_000548.5(TSC2):c.4122C>G (p.Leu1374=)
NM_000548.5(TSC2):c.4128C>T (p.Phe1376=) rs1060504086
NM_000548.5(TSC2):c.4134C>G (p.Pro1378=) rs1060504081
NM_000548.5(TSC2):c.4152G>A (p.Lys1384=) rs2151525029
NM_000548.5(TSC2):c.4233C>T (p.Ser1411=) rs1060504090
NM_000548.5(TSC2):c.4239G>A (p.Glu1413=) rs907082165
NM_000548.5(TSC2):c.4248C>A (p.Ala1416=) rs1393358018
NM_000548.5(TSC2):c.4344C>T (p.Ser1448=)
NM_000548.5(TSC2):c.4350C>G (p.Pro1450=)
NM_000548.5(TSC2):c.435C>T (p.Ala145=) rs762200040
NM_000548.5(TSC2):c.4389C>T (p.Ile1463=) rs1555514425
NM_000548.5(TSC2):c.4398G>A (p.Ser1466=) rs376086638
NM_000548.5(TSC2):c.4416C>T (p.Gly1472=) rs2090534289
NM_000548.5(TSC2):c.4461C>G (p.Ser1487=) rs777104003
NM_000548.5(TSC2):c.4473A>G (p.Lys1491=) rs1266546987
NM_000548.5(TSC2):c.4512C>G (p.Leu1504=) rs771595886
NM_000548.5(TSC2):c.4524C>T (p.Pro1508=) rs1596422510
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.4560G>T (p.Leu1520=) rs1596423200
NM_000548.5(TSC2):c.456C>T (p.His152=) rs1596265401
NM_000548.5(TSC2):c.4578C>A (p.Ser1526=)
NM_000548.5(TSC2):c.4641C>G (p.Val1547=)
NM_000548.5(TSC2):c.4659C>G (p.Gly1553=) rs202212109
NM_000548.5(TSC2):c.4663-4del
NM_000548.5(TSC2):c.4716G>T (p.Thr1572=) rs369346726
NM_000548.5(TSC2):c.4722C>T (p.Phe1574=) rs565576095
NM_000548.5(TSC2):c.4728G>C (p.Thr1576=) rs752642825
NM_000548.5(TSC2):c.4732C>T (p.Leu1578=) rs917807471
NM_000548.5(TSC2):c.4758C>T (p.Asp1586=)
NM_000548.5(TSC2):c.4818C>T (p.Phe1606=)
NM_000548.5(TSC2):c.4850-14C>T rs397515189
NM_000548.5(TSC2):c.4854C>G (p.Val1618=) rs45517378
NM_000548.5(TSC2):c.4869C>G (p.Thr1623=) rs150239180
NM_000548.5(TSC2):c.486C>T (p.Asp162=) rs45473598
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=) rs551938797
NM_000548.5(TSC2):c.5069-3C>T rs2091085832
NM_000548.5(TSC2):c.5069-4C>T rs1555440004
NM_000548.5(TSC2):c.5069-9T>C
NM_000548.5(TSC2):c.5100C>T (p.Ala1700=) rs1172938826
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5106C>T (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5109G>C (p.Val1703=) rs770413433
NM_000548.5(TSC2):c.5118C>T (p.Arg1706=) rs397515079
NM_000548.5(TSC2):c.5121C>T (p.Asn1707=)
NM_000548.5(TSC2):c.5124G>A (p.Leu1708=) rs2151622005
NM_000548.5(TSC2):c.5160T>C (p.Asn1720=) rs137854883
NM_000548.5(TSC2):c.5161-10A>G rs1800718
NM_000548.5(TSC2):c.5161-5C>T rs775534948
NM_000548.5(TSC2):c.5175G>A (p.Val1725=) rs886038357
NM_000548.5(TSC2):c.5199C>G (p.Thr1733=)
NM_000548.5(TSC2):c.5232C>G (p.Leu1744=)
NM_000548.5(TSC2):c.5250C>A (p.Leu1750=) rs370353005
NM_000548.5(TSC2):c.5262C>A (p.Ile1754=) rs397515318
NM_000548.5(TSC2):c.5286C>T (p.Asn1762=) rs757204634
NM_000548.5(TSC2):c.5301G>A (p.Leu1767=)
NM_000548.5(TSC2):c.5346C>T (p.Ala1782=) rs557200243
NM_000548.5(TSC2):c.5367G>A (p.Glu1789=) rs966695764
NM_000548.5(TSC2):c.5403G>A (p.Glu1801=) rs1060500918
NM_000548.5(TSC2):c.5409C>T (p.Phe1803=) rs770270816
NM_000548.5(TSC2):c.540G>A (p.Leu180=) rs1567403619
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys) rs376017665
NM_000548.5(TSC2):c.5421G>A (p.Val1807=) rs1596464773
NM_000548.5(TSC2):c.573C>G (p.Leu191=) rs397515059
NM_000548.5(TSC2):c.600-11G>A
NM_000548.5(TSC2):c.600-5T>C rs779176291
NM_000548.5(TSC2):c.609T>C (p.Cys203=) rs1596275256
NM_000548.5(TSC2):c.60A>G (p.Gly20=) rs1060504108
NM_000548.5(TSC2):c.610C>T (p.Leu204=) rs1439997904
NM_000548.5(TSC2):c.630G>C (p.Ala210=) rs567756494
NM_000548.5(TSC2):c.649-12C>T
NM_000548.5(TSC2):c.716T>G (p.Phe239Cys) rs778544723
NM_000548.5(TSC2):c.775-3C>T
NM_000548.5(TSC2):c.801C>T (p.His267=)
NM_000548.5(TSC2):c.810C>T (p.His270=) rs1596280678
NM_000548.5(TSC2):c.861G>A (p.Glu287=) rs192567788
NM_000548.5(TSC2):c.87G>A (p.Arg29=) rs1010489256
NM_000548.5(TSC2):c.927C>T (p.Leu309=) rs79786059
NM_000548.5(TSC2):c.930T>C (p.Tyr310=)
NM_000548.5(TSC2):c.96G>A (p.Glu32=) rs1567380772

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