ClinVar Miner

Variants with conflicting interpretations studied for Tuberous sclerosis 2

Coded as:
Minimum review status of the submission for Tuberous sclerosis 2: Collection method of the submission for Tuberous sclerosis 2:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
6743 906 0 589 257 0 32 844

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Tuberous sclerosis 2 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 43 9 1 1
likely pathogenic 43 0 20 5 0
uncertain significance 9 20 0 121 166
likely benign 1 5 121 0 546
benign 1 0 166 546 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Tuberous sclerosis 2 6743 906 0 589 257 0 32 844

All variants with conflicting interpretations #

Total variants: 844
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
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.275A>T (p.Glu92Val) rs137853994 0.00101
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
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.4007C>T (p.Ser1336Leu) rs148527903 0.00067
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_000548.5(TSC2):c.1839+6G>A rs45517204 0.00046
NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr) rs786203769 0.00034
NM_000548.5(TSC2):c.2743-3C>A rs45517264 0.00033
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_000548.5(TSC2):c.1120-17C>T rs201704675 0.00026
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00026
NM_000548.5(TSC2):c.1443+4C>T rs45517172 0.00024
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223 0.00022
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) rs137920189 0.00022
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=) rs373968155 0.00021
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529 0.00019
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691 0.00019
NM_000548.5(TSC2):c.4662+17G>A rs45443002 0.00019
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=) rs144965811 0.00019
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084 0.00018
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223 0.00016
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=) rs368923127 0.00016
NM_000548.5(TSC2):c.552C>T (p.Val184=) rs199991910 0.00016
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100 0.00015
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp) rs373939435 0.00014
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801 0.00014
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409 0.00014
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_000548.5(TSC2):c.4398G>T (p.Ser1466=) rs376086638 0.00013
NM_000548.5(TSC2):c.1599+10G>A rs376692777 0.00012
NM_000548.5(TSC2):c.2546-5C>T rs45517247 0.00012
NM_000548.5(TSC2):c.3611-4G>A rs368926908 0.00012
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481 0.00012
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510 0.00012
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His) rs142848358 0.00012
NM_000548.5(TSC2):c.1946+20C>T rs372149311 0.00011
NM_000548.5(TSC2):c.3468A>G (p.Pro1156=) rs147242130 0.00011
NM_000548.5(TSC2):c.4226G>A (p.Arg1409Gln) rs768684515 0.00011
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu) rs45514391 0.00011
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446 0.00010
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238 0.00010
NM_000548.5(TSC2):c.4510C>T (p.Leu1504Phe) rs747613240 0.00010
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.3364C>T (p.Arg1122Cys) rs397514938 0.00008
NM_000548.5(TSC2):c.3815-16C>T rs546810161 0.00008
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg) rs367963898 0.00007
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515 0.00007
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065 0.00007
NM_000548.5(TSC2):c.5259+9T>C rs1057522018 0.00007
NM_000548.5(TSC2):c.619G>A (p.Val207Ile) rs139929314 0.00007
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu) rs139060277 0.00007
NM_000548.5(TSC2):c.1341G>A (p.Ala447=) rs141609319 0.00006
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) rs760489473 0.00006
NM_000548.5(TSC2):c.2546-6C>T rs372088609 0.00006
NM_000548.5(TSC2):c.363C>T (p.Ala121=) rs45517106 0.00006
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=) rs144891432 0.00006
NM_000548.5(TSC2):c.4351C>G (p.Arg1451Gly) rs369553241 0.00006
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392 0.00006
NM_000548.5(TSC2):c.5319T>C (p.His1773=) rs536518032 0.00006
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His) rs137854288 0.00006
NM_000548.5(TSC2):c.618C>T (p.Cys206=) rs45498496 0.00006
NM_000548.5(TSC2):c.1293G>A (p.Ala431=) rs45517162 0.00005
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591 0.00005
NM_000548.5(TSC2):c.2220+4C>G rs781186613 0.00005
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr) rs759837836 0.00005
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) rs397515046 0.00005
NM_000548.5(TSC2):c.282G>A (p.Pro94=) rs145624233 0.00005
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062 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.5186G>A (p.Arg1729His) rs760395277 0.00005
NM_000548.5(TSC2):c.1095C>T (p.Ile365=) rs757135168 0.00004
NM_000548.5(TSC2):c.1730C>T (p.Thr577Ile) rs770895919 0.00004
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761 0.00004
NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr) rs758301934 0.00004
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser) rs137854168 0.00004
NM_000548.5(TSC2):c.2163G>A (p.Val721=) rs552644975 0.00004
NM_000548.5(TSC2):c.2859C>T (p.Pro953=) rs397514968 0.00004
NM_000548.5(TSC2):c.2887G>A (p.Val963Met) rs45517275 0.00004
NM_000548.5(TSC2):c.2926C>T (p.Arg976Trp) rs769527912 0.00004
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790 0.00004
NM_000548.5(TSC2):c.3225C>T (p.Thr1075=) rs374145104 0.00004
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His) rs369536711 0.00004
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=) rs146734084 0.00004
NM_000548.5(TSC2):c.4332C>T (p.Pro1444=) rs373973956 0.00004
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys) rs376946970 0.00004
NM_000548.5(TSC2):c.5122C>T (p.Leu1708=) rs1168265181 0.00004
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu) rs749326176 0.00004
NM_000548.5(TSC2):c.5307C>T (p.His1769=) rs562220073 0.00004
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064 0.00004
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=) rs370820622 0.00004
NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile) rs778395191 0.00004
NM_000548.5(TSC2):c.1059C>T (p.Leu353=) rs796053472 0.00003
NM_000548.5(TSC2):c.108G>A (p.Thr36=) rs781075483 0.00003
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) rs45517148 0.00003
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu) rs45517154 0.00003
NM_000548.5(TSC2):c.1150G>A (p.Val384Ile) rs397514881 0.00003
NM_000548.5(TSC2):c.1317C>T (p.Asp439=) rs777457815 0.00003
NM_000548.5(TSC2):c.1600-10C>T rs768188836 0.00003
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu) rs587778729 0.00003
NM_000548.5(TSC2):c.1815A>G (p.Pro605=) rs961687056 0.00003
NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys) rs45437797 0.00003
NM_000548.5(TSC2):c.1991C>T (p.Ser664Phe) rs991714565 0.00003
NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu) rs768864353 0.00003
NM_000548.5(TSC2):c.2019G>A (p.Ala673=) rs772993105 0.00003
NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu) rs370553131 0.00003
NM_000548.5(TSC2):c.2097+13G>A rs367915255 0.00003
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro) rs45517215 0.00003
NM_000548.5(TSC2):c.2220+11C>T rs372555496 0.00003
NM_000548.5(TSC2):c.2315C>T (p.Ala772Val) rs397514984 0.00003
NM_000548.5(TSC2):c.2545+9C>G rs369385105 0.00003
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val) rs45517249 0.00003
NM_000548.5(TSC2):c.2781C>T (p.Thr927=) rs376275903 0.00003
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.3240A>G (p.Leu1080=) rs371514669 0.00003
NM_000548.5(TSC2):c.3254C>T (p.Ser1085Leu) rs45517287 0.00003
NM_000548.5(TSC2):c.325G>A (p.Val109Met) rs369932305 0.00003
NM_000548.5(TSC2):c.3281C>G (p.Ser1094Trp) rs397514887 0.00003
NM_000548.5(TSC2):c.336+14C>T rs570065416 0.00003
NM_000548.5(TSC2):c.3482C>T (p.Ala1161Val) rs397514901 0.00003
NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met) rs373481458 0.00003
NM_000548.5(TSC2):c.3600G>A (p.Arg1200=) rs1410559096 0.00003
NM_000548.5(TSC2):c.3663G>A (p.Ser1221=) rs137854268 0.00003
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys) rs137854391 0.00003
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=) rs749057825 0.00003
NM_000548.5(TSC2):c.4167C>T (p.Pro1389=) rs45508504 0.00003
NM_000548.5(TSC2):c.4194C>T (p.Leu1398=) rs1060504106 0.00003
NM_000548.5(TSC2):c.4219G>A (p.Val1407Met) rs45517332 0.00003
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe) rs759004251 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.4812C>A (p.Gly1604=) rs397515103 0.00003
NM_000548.5(TSC2):c.4849+5G>A rs1198379006 0.00003
NM_000548.5(TSC2):c.4854C>T (p.Val1618=) rs45517378 0.00003
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp) rs1200837034 0.00003
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_000548.5(TSC2):c.5362T>G (p.Tyr1788Asp) rs904411432 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_000548.5(TSC2):c.583A>G (p.Ile195Val) rs148325559 0.00003
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr) rs45517113 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.673G>A (p.Val225Met) rs142919353 0.00003
NM_000548.5(TSC2):c.711G>A (p.Pro237=) rs189380607 0.00003
NM_000548.5(TSC2):c.734G>A (p.Arg245His) rs397515011 0.00003
NM_000548.5(TSC2):c.828G>A (p.Met276Ile) rs1318274503 0.00003
NM_000548.5(TSC2):c.864C>T (p.Asp288=) rs780887572 0.00003
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp) rs201144475 0.00003
NM_000548.5(TSC2):c.1071G>A (p.Ala357=) rs776395163 0.00002
NM_000548.5(TSC2):c.1093A>G (p.Ile365Val) rs370403197 0.00002
NM_000548.5(TSC2):c.1257+8C>A rs767392684 0.00002
NM_000548.5(TSC2):c.1309G>C (p.Ala437Pro) rs764967942 0.00002
NM_000548.5(TSC2):c.1458C>T (p.Asn486=) rs200532154 0.00002
NM_000548.5(TSC2):c.1743C>A (p.Ser581Arg) rs775195398 0.00002
NM_000548.5(TSC2):c.1785G>A (p.Gln595=) rs150352976 0.00002
NM_000548.5(TSC2):c.1806C>T (p.Tyr602=) rs367553206 0.00002
NM_000548.5(TSC2):c.1818C>T (p.Ile606=) rs547389841 0.00002
NM_000548.5(TSC2):c.1883G>A (p.Arg628His) rs774895427 0.00002
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys) rs1319342312 0.00002
NM_000548.5(TSC2):c.1977C>T (p.Thr659=) rs369065703 0.00002
NM_000548.5(TSC2):c.2012G>A (p.Gly671Asp) rs775881847 0.00002
NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser) rs764840082 0.00002
NM_000548.5(TSC2):c.2027G>T (p.Gly676Val) rs754556513 0.00002
NM_000548.5(TSC2):c.2074G>A (p.Val692Ile) rs201769220 0.00002
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg) rs1489623582 0.00002
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile) rs767770242 0.00002
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln) rs766442736 0.00002
NM_000548.5(TSC2):c.226-13C>T rs886038353 0.00002
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val) rs886042145 0.00002
NM_000548.5(TSC2):c.2310G>C (p.Leu770=) rs772380298 0.00002
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys) rs767252128 0.00002
NM_000548.5(TSC2):c.2412C>T (p.Cys804=) rs763123951 0.00002
NM_000548.5(TSC2):c.2479G>A (p.Val827Met) rs543738044 0.00002
NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu) rs138527121 0.00002
NM_000548.5(TSC2):c.2694C>T (p.Ile898=) rs200360213 0.00002
NM_000548.5(TSC2):c.2916C>A (p.Ala972=) rs751474097 0.00002
NM_000548.5(TSC2):c.2948C>G (p.Ser983Cys) rs759786102 0.00002
NM_000548.5(TSC2):c.2968A>G (p.Arg990Gly) rs753730009 0.00002
NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn) rs149808366 0.00002
NM_000548.5(TSC2):c.3039T>C (p.Asp1013=) rs149098424 0.00002
NM_000548.5(TSC2):c.3396G>A (p.Ser1132=) rs373004429 0.00002
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=) rs749633483 0.00002
NM_000548.5(TSC2):c.344G>A (p.Arg115His) rs764529584 0.00002
NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu) rs778069675 0.00002
NM_000548.5(TSC2):c.3520C>T (p.Arg1174Trp) rs529298825 0.00002
NM_000548.5(TSC2):c.3526C>T (p.Pro1176Ser) rs1326077397 0.00002
NM_000548.5(TSC2):c.3534G>A (p.Gln1178=) rs201305783 0.00002
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val) rs1060500939 0.00002
NM_000548.5(TSC2):c.3610+4C>T rs201978396 0.00002
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg) rs767059758 0.00002
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=) rs201599540 0.00002
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys) rs1020561347 0.00002
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val) rs749367382 0.00002
NM_000548.5(TSC2):c.3928G>A (p.Val1310Met) rs1046522975 0.00002
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209 0.00002
NM_000548.5(TSC2):c.3993T>A (p.Asp1331Glu) rs776049462 0.00002
NM_000548.5(TSC2):c.4057G>A (p.Val1353Ile) rs373982157 0.00002
NM_000548.5(TSC2):c.4082G>A (p.Arg1361Gln) rs762798984 0.00002
NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala) rs755461310 0.00002
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln) rs587778738 0.00002
NM_000548.5(TSC2):c.411C>T (p.His137=) rs776129896 0.00002
NM_000548.5(TSC2):c.4155C>G (p.Ser1385=) rs1057521540 0.00002
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=) rs911307922 0.00002
NM_000548.5(TSC2):c.4303G>A (p.Glu1435Lys) rs1441136255 0.00002
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) rs45517338 0.00002
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu) rs45517339 0.00002
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg) rs1219556604 0.00002
NM_000548.5(TSC2):c.4440A>G (p.Leu1480=) rs756991335 0.00002
NM_000548.5(TSC2):c.4527C>G (p.Phe1509Leu) rs775919951 0.00002
NM_000548.5(TSC2):c.4552A>G (p.Ile1518Val) rs764903148 0.00002
NM_000548.5(TSC2):c.4590G>A (p.Ser1530=) rs377377367 0.00002
NM_000548.5(TSC2):c.4599C>T (p.Leu1533=) rs768431568 0.00002
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=) rs151140709 0.00002
NM_000548.5(TSC2):c.4728G>A (p.Thr1576=) rs752642825 0.00002
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795 0.00002
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn) rs45482398 0.00002
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn) rs137853999 0.00002
NM_000548.5(TSC2):c.4942A>G (p.Ile1648Val) rs749554579 0.00002
NM_000548.5(TSC2):c.4956C>T (p.Asp1652=) rs1376515823 0.00002
NM_000548.5(TSC2):c.4973A>G (p.Lys1658Arg) rs1050594534 0.00002
NM_000548.5(TSC2):c.5004T>C (p.Phe1668=) rs745787082 0.00002
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val) rs374066182 0.00002
NM_000548.5(TSC2):c.5064G>A (p.Arg1688=) rs374476631 0.00002
NM_000548.5(TSC2):c.5112T>A (p.Ser1704=) rs769158004 0.00002
NM_000548.5(TSC2):c.5160+7G>C rs45506600 0.00002
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His) rs373365980 0.00002
NM_000548.5(TSC2):c.5279A>G (p.Tyr1760Cys) rs1261020269 0.00002
NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala) rs777006583 0.00002
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser) rs45505405 0.00002
NM_000548.5(TSC2):c.945G>A (p.Ser315=) rs763948768 0.00002
NM_000548.5(TSC2):c.975+7C>T rs372463702 0.00002
NM_000548.5(TSC2):c.993C>T (p.Asn331=) rs45517153 0.00002
NM_000548.5(TSC2):c.1004C>T (p.Ser335Phe) rs45517144 0.00001
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) rs397515146 0.00001
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala) rs757113497 0.00001
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile) rs758511419 0.00001
NM_000548.5(TSC2):c.1146C>A (p.Thr382=) rs887128869 0.00001
NM_000548.5(TSC2):c.1154A>G (p.His385Arg) rs757353933 0.00001
NM_000548.5(TSC2):c.123C>T (p.Thr41=) rs1060504100 0.00001
NM_000548.5(TSC2):c.131T>C (p.Ile44Thr) rs1190102918 0.00001
NM_000548.5(TSC2):c.1352G>A (p.Arg451Lys) rs749780677 0.00001
NM_000548.5(TSC2):c.1361+20C>G rs538626543 0.00001
NM_000548.5(TSC2):c.1367A>G (p.Glu456Gly) rs876659386 0.00001
NM_000548.5(TSC2):c.1371C>G (p.Ser457=) rs1060504093 0.00001
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077 0.00001
NM_000548.5(TSC2):c.1401C>T (p.Asp467=) rs1433989426 0.00001
NM_000548.5(TSC2):c.1440T>C (p.Tyr480=) rs45514794 0.00001
NM_000548.5(TSC2):c.1450C>T (p.Leu484=) rs2087007486 0.00001
NM_000548.5(TSC2):c.1455T>C (p.Ile485=) rs1239743041 0.00001
NM_000548.5(TSC2):c.1472C>T (p.Ser491Leu) rs45517176 0.00001
NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln) rs376285784 0.00001
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala) rs772617064 0.00001
NM_000548.5(TSC2):c.1566C>T (p.His522=) rs876659982 0.00001
NM_000548.5(TSC2):c.1588A>G (p.Ile530Val) rs786203470 0.00001
NM_000548.5(TSC2):c.1610G>A (p.Arg537His) rs372681603 0.00001
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) rs752953762 0.00001
NM_000548.5(TSC2):c.1653C>T (p.Ala551=) rs202171361 0.00001
NM_000548.5(TSC2):c.1654G>A (p.Ala552Thr) rs777121421 0.00001
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu) rs45471596 0.00001
NM_000548.5(TSC2):c.1662G>A (p.Ser554=) rs775617895 0.00001
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268 0.00001
NM_000548.5(TSC2):c.1685C>T (p.Thr562Ile) rs1463643429 0.00001
NM_000548.5(TSC2):c.1686A>T (p.Thr562=) rs755900760 0.00001
NM_000548.5(TSC2):c.1717-6C>T rs1596335934 0.00001
NM_000548.5(TSC2):c.1748C>T (p.Ala583Val) rs763863196 0.00001
NM_000548.5(TSC2):c.1754G>A (p.Arg585His) rs397515063 0.00001
NM_000548.5(TSC2):c.175C>T (p.Arg59Trp) rs1015282988 0.00001
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=) rs45509094 0.00001
NM_000548.5(TSC2):c.1800C>T (p.His600=) rs762782913 0.00001
NM_000548.5(TSC2):c.1823G>C (p.Ser608Thr) rs753235037 0.00001
NM_000548.5(TSC2):c.1839+10C>T rs868388786 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.1870G>A (p.Asp624Asn) rs1334081822 0.00001
NM_000548.5(TSC2):c.1945A>G (p.Met649Val) rs762331610 0.00001
NM_000548.5(TSC2):c.1983C>T (p.Gly661=) rs1270679683 0.00001
NM_000548.5(TSC2):c.2014C>T (p.Pro672Ser) rs1262368552 0.00001
NM_000548.5(TSC2):c.2030C>T (p.Pro677Leu) rs376974525 0.00001
NM_000548.5(TSC2):c.2047T>C (p.Ser683Pro) rs878854080 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.2097+5G>C rs977777731 0.00001
NM_000548.5(TSC2):c.2122C>T (p.Leu708=) rs778040604 0.00001
NM_000548.5(TSC2):c.2128C>T (p.Leu710=) rs1225700612 0.00001
NM_000548.5(TSC2):c.2147C>T (p.Ser716Phe) rs781153452 0.00001
NM_000548.5(TSC2):c.2220+5C>T rs1164941572 0.00001
NM_000548.5(TSC2):c.2245C>T (p.Arg749Trp) rs377397369 0.00001
NM_000548.5(TSC2):c.2250C>T (p.Leu750=) rs1387127083 0.00001
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln) rs749593050 0.00001
NM_000548.5(TSC2):c.2257G>A (p.Ala753Thr) rs574205203 0.00001
NM_000548.5(TSC2):c.2287C>T (p.His763Tyr) rs758234726 0.00001
NM_000548.5(TSC2):c.2298G>C (p.Val766=) rs1157138703 0.00001
NM_000548.5(TSC2):c.2308C>T (p.Leu770=) rs762215859 0.00001
NM_000548.5(TSC2):c.2322C>T (p.Ile774=) rs760885994 0.00001
NM_000548.5(TSC2):c.2330A>G (p.His777Arg) rs759528809 0.00001
NM_000548.5(TSC2):c.2355+6A>T rs904030973 0.00001
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile) rs779472379 0.00001
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe) rs758961134 0.00001
NM_000548.5(TSC2):c.2395C>T (p.Arg799Cys) rs1366556255 0.00001
NM_000548.5(TSC2):c.2415C>T (p.Val805=) rs45517235 0.00001
NM_000548.5(TSC2):c.2416G>A (p.Val806Met) rs796053473 0.00001
NM_000548.5(TSC2):c.2454C>T (p.Ile818=) rs786201599 0.00001
NM_000548.5(TSC2):c.2465C>T (p.Ala822Val) rs936484229 0.00001
NM_000548.5(TSC2):c.2466G>A (p.Ala822=) rs141728350 0.00001
NM_000548.5(TSC2):c.2467C>T (p.Leu823=) rs554509064 0.00001
NM_000548.5(TSC2):c.2484G>A (p.Val828=) rs780395534 0.00001
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492 0.00001
NM_000548.5(TSC2):c.2526A>G (p.Pro842=) rs753466189 0.00001
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala) rs781713438 0.00001
NM_000548.5(TSC2):c.2546-4G>A rs746958032 0.00001
NM_000548.5(TSC2):c.2553C>T (p.Ala851=) rs745687916 0.00001
NM_000548.5(TSC2):c.2554A>C (p.Arg852=) rs769586763 0.00001
NM_000548.5(TSC2):c.2568C>G (p.Leu856=) rs886038354 0.00001
NM_000548.5(TSC2):c.2571C>T (p.Tyr857=) rs774063865 0.00001
NM_000548.5(TSC2):c.257C>T (p.Ala86Val) rs1369594860 0.00001
NM_000548.5(TSC2):c.2592G>C (p.Gln864His) rs763099064 0.00001
NM_000548.5(TSC2):c.2601T>C (p.Ser867=) rs878854086 0.00001
NM_000548.5(TSC2):c.2607C>T (p.Phe869=) rs750336814 0.00001
NM_000548.5(TSC2):c.2610C>T (p.Ala870=) rs755870234 0.00001
NM_000548.5(TSC2):c.2631C>T (p.Asn877=) rs45517251 0.00001
NM_000548.5(TSC2):c.2655C>T (p.Ile885=) rs1060504116 0.00001
NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys) rs796053512 0.00001
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys) rs774758044 0.00001
NM_000548.5(TSC2):c.273G>A (p.Pro91=) rs772296140 0.00001
NM_000548.5(TSC2):c.2742+3G>A rs373935836 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.2780C>A (p.Thr927Asn) rs144329595 0.00001
NM_000548.5(TSC2):c.2823C>T (p.Asn941=) rs750806272 0.00001
NM_000548.5(TSC2):c.2837+4C>T rs544409858 0.00001
NM_000548.5(TSC2):c.2844G>A (p.Arg948=) rs1060504114 0.00001
NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys) rs147523833 0.00001
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu) rs370415754 0.00001
NM_000548.5(TSC2):c.2886C>T (p.Pro962=) rs140202176 0.00001
NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys) rs780981335 0.00001
NM_000548.5(TSC2):c.2954A>G (p.His985Arg) rs1330306605 0.00001
NM_000548.5(TSC2):c.2998T>C (p.Leu1000=) rs756679047 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.3088A>G (p.Met1030Val) rs754276150 0.00001
NM_000548.5(TSC2):c.3131+8C>T rs763702215 0.00001
NM_000548.5(TSC2):c.3171C>G (p.Thr1057=) rs1487006409 0.00001
NM_000548.5(TSC2):c.3193A>C (p.Lys1065Gln) rs751955670 0.00001
NM_000548.5(TSC2):c.324C>T (p.Ile108=) rs973500815 0.00001
NM_000548.5(TSC2):c.327G>A (p.Val109=) rs754348511 0.00001
NM_000548.5(TSC2):c.3282G>A (p.Ser1094=) rs1060504095 0.00001
NM_000548.5(TSC2):c.3284+6T>G rs375837026 0.00001
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu) rs773545852 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.336+8C>T rs779174834 0.00001
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) rs778352969 0.00001
NM_000548.5(TSC2):c.337-3T>C rs770515822 0.00001
NM_000548.5(TSC2):c.3373C>T (p.Arg1125Trp) rs747420910 0.00001
NM_000548.5(TSC2):c.3374G>A (p.Arg1125Gln) rs796053475 0.00001
NM_000548.5(TSC2):c.3390C>T (p.Ser1130=) rs867238767 0.00001
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val) rs775639244 0.00001
NM_000548.5(TSC2):c.3392T>C (p.Met1131Thr) rs763122999 0.00001
NM_000548.5(TSC2):c.3401G>A (p.Gly1134Asp) rs766223343 0.00001
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu) rs397515162 0.00001
NM_000548.5(TSC2):c.3487G>T (p.Ala1163Ser) rs560522093 0.00001
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu) rs751708490 0.00001
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=) rs139313964 0.00001
NM_000548.5(TSC2):c.3554C>T (p.Ala1185Val) rs1057521812 0.00001
NM_000548.5(TSC2):c.3634C>T (p.Leu1212=) rs1358537146 0.00001
NM_000548.5(TSC2):c.3639G>A (p.Glu1213=) rs747862818 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.3717G>A (p.Glu1239=) rs765060368 0.00001
NM_000548.5(TSC2):c.3750C>T (p.Tyr1250=) rs45517308 0.00001
NM_000548.5(TSC2):c.375G>C (p.Lys125Asn) rs778928295 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.3793C>T (p.Pro1265Ser) rs45517311 0.00001
NM_000548.5(TSC2):c.3799C>T (p.Pro1267Ser) rs757010959 0.00001
NM_000548.5(TSC2):c.3814+10A>G rs200309006 0.00001
NM_000548.5(TSC2):c.3815-1G>A rs2090256621 0.00001
NM_000548.5(TSC2):c.3816G>A (p.Val1272=) rs45517314 0.00001
NM_000548.5(TSC2):c.3843C>T (p.Ser1281=) rs1223688571 0.00001
NM_000548.5(TSC2):c.3850C>T (p.Gln1284Ter) rs753308966 0.00001
NM_000548.5(TSC2):c.3884-8C>G rs397515219 0.00001
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) rs368712041 0.00001
NM_000548.5(TSC2):c.3939G>T (p.Glu1313Asp) rs149340262 0.00001
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn) rs375883030 0.00001
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile) rs767495365 0.00001
NM_000548.5(TSC2):c.3963G>C (p.Glu1321Asp) rs587778737 0.00001
NM_000548.5(TSC2):c.3985C>T (p.Arg1329Cys) rs747695245 0.00001
NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe) rs200411484 0.00001
NM_000548.5(TSC2):c.4037C>T (p.Ser1346Leu) rs45517326 0.00001
NM_000548.5(TSC2):c.4039C>G (p.Leu1347Val) rs377050648 0.00001
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) rs201979616 0.00001
NM_000548.5(TSC2):c.4074C>T (p.Pro1358=) rs144098854 0.00001
NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys) rs397514997 0.00001
NM_000548.5(TSC2):c.4080G>A (p.Glu1360=) rs786203798 0.00001
NM_000548.5(TSC2):c.4086C>T (p.Val1362=) rs763847509 0.00001
NM_000548.5(TSC2):c.408T>G (p.Leu136=) rs1037058497 0.00001
NM_000548.5(TSC2):c.4115T>C (p.Val1372Ala) rs1300203299 0.00001
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=) rs769653533 0.00001
NM_000548.5(TSC2):c.4170G>A (p.Glu1390=) rs1244952951 0.00001
NM_000548.5(TSC2):c.4176G>A (p.Gln1392=) rs749930791 0.00001
NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser) rs778147657 0.00001
NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg) rs562443546 0.00001
NM_000548.5(TSC2):c.4262G>A (p.Gly1421Glu) rs1368001965 0.00001
NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg) rs763497329 0.00001
NM_000548.5(TSC2):c.4282G>A (p.Ala1428Thr) rs764533757 0.00001
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val) rs757579310 0.00001
NM_000548.5(TSC2):c.4313G>A (p.Arg1438Gln) rs45448791 0.00001
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=) rs536527623 0.00001
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala) rs1459518095 0.00001
NM_000548.5(TSC2):c.433G>A (p.Ala145Thr) rs774892845 0.00001
NM_000548.5(TSC2):c.4348C>G (p.Pro1450Ala) rs376381196 0.00001
NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr) rs370114027 0.00001
NM_000548.5(TSC2):c.4516C>T (p.His1506Tyr) rs1173459869 0.00001
NM_000548.5(TSC2):c.4534G>A (p.Asp1512Asn) rs774441486 0.00001
NM_000548.5(TSC2):c.4557G>T (p.Leu1519=) rs1260508226 0.00001
NM_000548.5(TSC2):c.4569+6C>T rs756614796 0.00001
NM_000548.5(TSC2):c.4570-1G>A rs777985056 0.00001
NM_000548.5(TSC2):c.4570-3C>T rs1166715944 0.00001
NM_000548.5(TSC2):c.4577C>A (p.Ser1526Tyr) rs796053498 0.00001
NM_000548.5(TSC2):c.4635C>T (p.Ile1545=) rs757388437 0.00001
NM_000548.5(TSC2):c.4636G>A (p.Ala1546Thr) rs1332979299 0.00001
NM_000548.5(TSC2):c.4707C>T (p.Tyr1569=) rs397515277 0.00001
NM_000548.5(TSC2):c.4740G>T (p.Arg1580=) rs930171871 0.00001
NM_000548.5(TSC2):c.4766C>T (p.Pro1589Leu) rs373635516 0.00001
NM_000548.5(TSC2):c.4779C>T (p.Tyr1593=) rs45517368 0.00001
NM_000548.5(TSC2):c.4803T>G (p.Gly1601=) rs377474730 0.00001
NM_000548.5(TSC2):c.481+9C>T rs201026150 0.00001
NM_000548.5(TSC2):c.482-4C>T rs780938957 0.00001
NM_000548.5(TSC2):c.4833C>T (p.His1611=) rs765271161 0.00001
NM_000548.5(TSC2):c.4839C>T (p.Asp1613=) rs876660657 0.00001
NM_000548.5(TSC2):c.484G>A (p.Asp162Asn) rs1257721773 0.00001
NM_000548.5(TSC2):c.4850-8A>G rs372258482 0.00001
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) rs886051796 0.00001
NM_000548.5(TSC2):c.4914G>A (p.Lys1638=) rs137854094 0.00001
NM_000548.5(TSC2):c.4950C>T (p.Tyr1650=) rs1283177454 0.00001
NM_000548.5(TSC2):c.5011G>A (p.Val1671Met) rs775395648 0.00001
NM_000548.5(TSC2):c.5022C>T (p.Thr1674=) rs777184691 0.00001
NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn) rs1163037065 0.00001
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=) rs876658185 0.00001
NM_000548.5(TSC2):c.5058G>A (p.Gln1686=) rs200700923 0.00001
NM_000548.5(TSC2):c.5061C>T (p.Cys1687=) rs779923426 0.00001
NM_000548.5(TSC2):c.5069-5C>T rs762149472 0.00001
NM_000548.5(TSC2):c.5091C>T (p.Thr1697=) rs111675922 0.00001
NM_000548.5(TSC2):c.5135C>T (p.Ala1712Val) rs45517394 0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
NM_000548.5(TSC2):c.5144T>C (p.Met1715Thr) rs758246234 0.00001
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val) rs45517407 0.00001
NM_000548.5(TSC2):c.5196C>T (p.Pro1732=) rs910514279 0.00001
NM_000548.5(TSC2):c.5205C>T (p.Ile1735=) rs1308899138 0.00001
NM_000548.5(TSC2):c.5209C>T (p.Pro1737Ser) rs780112037 0.00001
NM_000548.5(TSC2):c.5211C>A (p.Pro1737=) rs151298910 0.00001
NM_000548.5(TSC2):c.5232C>T (p.Leu1744=) rs772865175 0.00001
NM_000548.5(TSC2):c.5288C>T (p.Pro1763Leu) rs781139561 0.00001
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn) rs138831802 0.00001
NM_000548.5(TSC2):c.5296C>T (p.Pro1766Ser) rs779621136 0.00001
NM_000548.5(TSC2):c.5299C>G (p.Leu1767Val) rs1051758 0.00001
NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr) rs1555441265 0.00001
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg) rs45517418 0.00001
NM_000548.5(TSC2):c.532C>T (p.Leu178=) rs1465941679 0.00001
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg) rs748947919 0.00001
NM_000548.5(TSC2):c.5337G>A (p.Gln1779=) rs768237144 0.00001
NM_000548.5(TSC2):c.5363A>G (p.Tyr1788Cys) rs397515221 0.00001
NM_000548.5(TSC2):c.5370G>C (p.Val1790=) rs762032752 0.00001
NM_000548.5(TSC2):c.5377C>T (p.Arg1793Trp) rs1473538868 0.00001
NM_000548.5(TSC2):c.5386C>T (p.Leu1796Phe) rs45455398 0.00001
NM_000548.5(TSC2):c.5389A>C (p.Ile1797Leu) rs796053479 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.599+10G>C rs1037449903 0.00001
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp) rs374410454 0.00001
NM_000548.5(TSC2):c.643A>G (p.Ile215Val) rs1293515155 0.00001
NM_000548.5(TSC2):c.655C>T (p.Leu219=) rs369046625 0.00001
NM_000548.5(TSC2):c.686A>G (p.Asn229Ser) rs1555498800 0.00001
NM_000548.5(TSC2):c.704G>A (p.Ser235Asn) rs397514957 0.00001
NM_000548.5(TSC2):c.713T>C (p.Leu238Pro) rs768623382 0.00001
NM_000548.5(TSC2):c.739A>G (p.Ile247Val) rs774526017 0.00001
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser) rs762104739 0.00001
NM_000548.5(TSC2):c.744C>T (p.Asn248=) rs767565673 0.00001
NM_000548.5(TSC2):c.745G>A (p.Val249Ile) rs750649974 0.00001
NM_000548.5(TSC2):c.821A>G (p.Tyr274Cys) rs1305592691 0.00001
NM_000548.5(TSC2):c.837C>T (p.Leu279=) rs746694709 0.00001
NM_000548.5(TSC2):c.83C>A (p.Pro28His) rs1057522105 0.00001
NM_000548.5(TSC2):c.849-6T>G rs886038358 0.00001
NM_000548.5(TSC2):c.857T>C (p.Met286Thr) rs45517136 0.00001
NM_000548.5(TSC2):c.867G>A (p.Ala289=) rs375163125 0.00001
NM_000548.5(TSC2):c.885C>T (p.Ala295=) rs778296481 0.00001
NM_000548.5(TSC2):c.886G>A (p.Val296Met) rs747237113 0.00001
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser) rs747310967 0.00001
NM_000548.5(TSC2):c.923G>A (p.Arg308Gln) rs1213252028 0.00001
NM_000548.5(TSC2):c.932C>G (p.Ser311Cys) rs1475672414 0.00001
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu) rs202082319 0.00001
NM_000548.5(TSC2):c.947C>A (p.Pro316Gln) rs751490043 0.00001
NM_000548.5(TSC2):c.951A>G (p.Thr317=) rs767275578 0.00001
NM_000548.5(TSC2):c.97G>A (p.Gly33Ser) rs370230541 0.00001
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala) rs45484892
NM_000548.5(TSC2):c.1049G>A (p.Arg350Lys) rs1567423240
NM_000548.5(TSC2):c.1074G>A (p.Trp358Ter) rs1229561585
NM_000548.5(TSC2):c.1077C>T (p.Asp359=) rs1555500558
NM_000548.5(TSC2):c.1083G>A (p.Leu361=) rs1057524138
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.1101G>C (p.Arg367=) rs45517149
NM_000548.5(TSC2):c.1119+3G>C rs79668097
NM_000548.5(TSC2):c.1137G>A (p.Glu379=) rs1057519260
NM_000548.5(TSC2):c.1182G>A (p.Leu394=) rs779951754
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.1257+10C>G rs756063576
NM_000548.5(TSC2):c.1257+2T>C rs45509697
NM_000548.5(TSC2):c.1257+5G>A rs2151157428
NM_000548.5(TSC2):c.1260G>A (p.Glu420=) rs876658585
NM_000548.5(TSC2):c.126G>A (p.Ala42=) rs886043548
NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys) rs397515187
NM_000548.5(TSC2):c.1299C>T (p.Ser433=) rs993220492
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu) rs796053485
NM_000548.5(TSC2):c.1311C>A (p.Ala437=) rs752435039
NM_000548.5(TSC2):c.133C>T (p.Leu45=) rs1555494707
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1362-4G>A rs397515145
NM_000548.5(TSC2):c.1381G>A (p.Val461Met) rs796053486
NM_000548.5(TSC2):c.1416G>A (p.Val472=) rs1596307406
NM_000548.5(TSC2):c.1443+5G>A rs1057521562
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe) rs751984707
NM_000548.5(TSC2):c.1482C>G (p.Ser494=) rs549189961
NM_000548.5(TSC2):c.1491C>G (p.Pro497=) rs781367910
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1553G>T (p.Gly518Val) rs1229407025
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn) rs376573446
NM_000548.5(TSC2):c.1593C>G (p.Ile531Met) rs45517180
NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys) rs149222396
NM_000548.5(TSC2):c.1594G>C (p.Glu532Gln) rs149222396
NM_000548.5(TSC2):c.1599+5G>A rs397515100
NM_000548.5(TSC2):c.1611C>T (p.Arg537=) rs45469702
NM_000548.5(TSC2):c.1626C>T (p.Pro542=) rs376234285
NM_000548.5(TSC2):c.1653C>G (p.Ala551=) rs202171361
NM_000548.5(TSC2):c.165C>T (p.Asn55=) rs1596245687
NM_000548.5(TSC2):c.1717-1G>A rs45517192
NM_000548.5(TSC2):c.1728C>T (p.Tyr576=) rs966102111
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala) rs45517196
NM_000548.5(TSC2):c.1740A>C (p.Ala580=) rs1057522755
NM_000548.5(TSC2):c.1743C>T (p.Ser581=) rs775195398
NM_000548.5(TSC2):c.1746C>T (p.His582=) rs876658921
NM_000548.5(TSC2):c.1758G>A (p.Val586=) rs1555505092
NM_000548.5(TSC2):c.1778A>G (p.His593Arg) rs45517198
NM_000548.5(TSC2):c.1796A>G (p.Lys599Arg) rs45517202
NM_000548.5(TSC2):c.17G>A (p.Ser6Asn) rs758239066
NM_000548.5(TSC2):c.1815A>T (p.Pro605=) rs961687056
NM_000548.5(TSC2):c.1824C>T (p.Ser608=) rs886038351
NM_000548.5(TSC2):c.1828A>G (p.Ile610Val) rs1285778253
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro) rs1567458244
NM_000548.5(TSC2):c.1840-4A>G rs1057523736
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro) rs45517206
NM_000548.5(TSC2):c.1869C>G (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1885C>G (p.Leu629Val) rs570409651
NM_000548.5(TSC2):c.1903G>A (p.Asp635Asn) rs1060500932
NM_000548.5(TSC2):c.1905T>C (p.Asp635=) rs1596342515
NM_000548.5(TSC2):c.190A>G (p.Ile64Val) rs397515081
NM_000548.5(TSC2):c.1912G>A (p.Val638Met) rs587778730
NM_000548.5(TSC2):c.1914G>A (p.Val638=) rs933464584
NM_000548.5(TSC2):c.1923C>T (p.Ser641=) rs1555505825
NM_000548.5(TSC2):c.1935C>G (p.Val645=) rs1596342693
NM_000548.5(TSC2):c.1946+5G>T rs766646261
NM_000548.5(TSC2):c.1971G>A (p.Lys657=) rs1596344117
NM_000548.5(TSC2):c.1980C>T (p.Ser660=) rs959705365
NM_000548.5(TSC2):c.2001A>G (p.Thr667=) rs1412129753
NM_000548.5(TSC2):c.2049_2050delinsTC (p.Val684Leu) rs1555506150
NM_000548.5(TSC2):c.2072G>A (p.Arg691His) rs370553131
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.5(TSC2):c.2098-2A>G rs45501596
NM_000548.5(TSC2):c.2098-6T>C rs1057523252
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn) rs1013995962
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met) rs778040604
NM_000548.5(TSC2):c.2124G>C (p.Leu708=) rs1596347174
NM_000548.5(TSC2):c.2136G>A (p.Arg712=) rs995073369
NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser) rs182538665
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_000548.5(TSC2):c.2178C>G (p.Ser726=) rs1380835459
NM_000548.5(TSC2):c.2180C>T (p.Pro727Leu) rs767086409
NM_000548.5(TSC2):c.2193C>T (p.Asp731=) rs760053529
NM_000548.5(TSC2):c.2197C>G (p.Leu733Val) rs397515163
NM_000548.5(TSC2):c.2211C>T (p.Leu737=) rs369851248
NM_000548.5(TSC2):c.2235G>A (p.Lys745=) rs762162898
NM_000548.5(TSC2):c.225+1G>A rs1567387207
NM_000548.5(TSC2):c.225+2T>C rs397515105
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2290C>A (p.Leu764Met) rs777614710
NM_000548.5(TSC2):c.2290C>T (p.Leu764=) rs777614710
NM_000548.5(TSC2):c.2301T>A (p.Val767=) rs531724951
NM_000548.5(TSC2):c.231A>C (p.Ala77=) rs2151026046
NM_000548.5(TSC2):c.2328C>T (p.Tyr776=) rs45517225
NM_000548.5(TSC2):c.2339T>C (p.Leu780Pro) rs2151328709
NM_000548.5(TSC2):c.2348C>T (p.Thr783Ile) rs562945619
NM_000548.5(TSC2):c.2352A>G (p.Lys784=) rs1596350666
NM_000548.5(TSC2):c.2356-4_2356-3delinsAG
NM_000548.5(TSC2):c.2356-5T>G rs796053488
NM_000548.5(TSC2):c.2389A>G (p.Ile797Val) rs1240217406
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu) rs45517236
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.2472T>C (p.Pro824=) rs1596356689
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.2520C>G (p.Ala840=) rs147683438
NM_000548.5(TSC2):c.2520C>T (p.Ala840=) rs147683438
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro) rs397515303
NM_000548.5(TSC2):c.2547T>C (p.Thr849=) rs1596364841
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2639+6T>C rs2151382514
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter) rs45476100
NM_000548.5(TSC2):c.2658G>A (p.Val886=) rs1035837417
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.2667C>T (p.Ala889=) rs774740459
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.2733C>T (p.Phe911=) rs1596367012
NM_000548.5(TSC2):c.2742+6C>G rs377568673
NM_000548.5(TSC2):c.2743-10A>G rs1060504094
NM_000548.5(TSC2):c.2751G>A (p.Arg917=) rs1555508897
NM_000548.5(TSC2):c.2763C>T (p.Leu921=) rs771817176
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs) rs1555508929
NM_000548.5(TSC2):c.2772del (p.Phe924fs) rs1555508938
NM_000548.5(TSC2):c.2774A>G (p.Asp925Gly) rs1555508942
NM_000548.5(TSC2):c.2780C>T (p.Thr927Ile) rs144329595
NM_000548.5(TSC2):c.2784C>G (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.2788_2790delinsGAC (p.Lys930Asp) rs1060500935
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln) rs1222477746
NM_000548.5(TSC2):c.2820C>G (p.Leu940=) rs876659493
NM_000548.5(TSC2):c.2825A>G (p.Glu942Gly) rs1018951391
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg) rs886051791
NM_000548.5(TSC2):c.2838-3T>C rs553942147
NM_000548.5(TSC2):c.2849C>T (p.Ala950Val) rs780737734
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
NM_000548.5(TSC2):c.2916C>T (p.Ala972=) rs751474097
NM_000548.5(TSC2):c.2926C>A (p.Arg976=) rs769527912
NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro) rs779832805
NM_000548.5(TSC2):c.2967-1G>T rs1596382055
NM_000548.5(TSC2):c.2985C>T (p.Leu995=) rs786203324
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser) rs1440361406
NM_000548.5(TSC2):c.3030G>A (p.Gln1010=) rs776658284
NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly) rs1060500961
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.30C>T (p.Gly10=) rs876659726
NM_000548.5(TSC2):c.3102C>G (p.Val1034=) rs562998574
NM_000548.5(TSC2):c.3126G>A (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3177C>T (p.Thr1059=) rs1031918517
NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe) rs886051793
NM_000548.5(TSC2):c.31T>C (p.Leu11=) rs978517404
NM_000548.5(TSC2):c.3210G>C (p.Thr1070=) rs539927192
NM_000548.5(TSC2):c.3210G>T (p.Thr1070=) rs539927192
NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe) rs371514669
NM_000548.5(TSC2):c.3241C>T (p.Leu1081=) rs1555510658
NM_000548.5(TSC2):c.3255G>A (p.Ser1085=) rs750617693
NM_000548.5(TSC2):c.3271G>A (p.Gly1091Ser) rs796053493
NM_000548.5(TSC2):c.3276G>C (p.Pro1092=) rs368923127
NM_000548.5(TSC2):c.3284+1G>A rs45517289
NM_000548.5(TSC2):c.3284+3G>A rs2089847916
NM_000548.5(TSC2):c.3292C>T (p.Pro1098Ser) rs772686090
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met) rs775584262
NM_000548.5(TSC2):c.3324G>A (p.Ala1108=) rs786203392
NM_000548.5(TSC2):c.3329C>G (p.Ala1110Gly) rs1060500923
NM_000548.5(TSC2):c.3330C>G (p.Ala1110=) rs1555510912
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu) rs1053311636
NM_000548.5(TSC2):c.336+1G>T
NM_000548.5(TSC2):c.336+5G>C rs1057523242
NM_000548.5(TSC2):c.3381G>A (p.Arg1127=) rs1596386421
NM_000548.5(TSC2):c.3396G>T (p.Ser1132=) rs373004429
NM_000548.5(TSC2):c.340G>A (p.Glu114Lys) rs397515021
NM_000548.5(TSC2):c.3411T>G (p.Leu1137=) rs876660766
NM_000548.5(TSC2):c.3425T>C (p.Leu1142Pro) rs796053513
NM_000548.5(TSC2):c.3459C>G (p.Ala1153=) rs1596389837
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.5(TSC2):c.3490G>T (p.Ala1164Ser) rs776579875
NM_000548.5(TSC2):c.3493A>G (p.Lys1165Glu) rs375444767
NM_000548.5(TSC2):c.3505G>A (p.Ala1169Thr) rs773900333
NM_000548.5(TSC2):c.3519C>T (p.Thr1173=) rs754306983
NM_000548.5(TSC2):c.3543G>C (p.Thr1181=) rs139313964
NM_000548.5(TSC2):c.3565C>G (p.Leu1189Val) rs796053476
NM_000548.5(TSC2):c.357C>G (p.Leu119=) rs1168763677
NM_000548.5(TSC2):c.3606C>T (p.Pro1202=) rs772580979
NM_000548.5(TSC2):c.3610+1G>T rs45517299
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.3612G>A (p.Gly1204=) rs1555512292
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly) rs45482795
NM_000548.5(TSC2):c.3645G>A (p.Pro1215=) rs758114962
NM_000548.5(TSC2):c.366C>T (p.Leu122=) rs1397677711
NM_000548.5(TSC2):c.3681C>T (p.Pro1227=) rs181279399
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=) rs777489742
NM_000548.5(TSC2):c.3735G>A (p.Arg1245=) rs756959674
NM_000548.5(TSC2):c.3745C>T (p.Leu1249=) rs1596400436
NM_000548.5(TSC2):c.3778A>G (p.Thr1260Ala) rs1310948800
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000548.5(TSC2):c.3835T>C (p.Tyr1279His) rs1449727037
NM_000548.5(TSC2):c.3846_3854del (p.Ser1282_Gly1285delinsArg) rs997331401
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.3867G>C (p.Arg1289Ser) rs1008733639
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val) rs371239156
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=) rs373508609
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val) rs45517322
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val) rs587778736
NM_000548.5(TSC2):c.3981C>G (p.Asp1327Glu) rs876659087
NM_000548.5(TSC2):c.3991G>C (p.Asp1331His) rs770396146
NM_000548.5(TSC2):c.3996C>A (p.Ala1332=) rs1421997373
NM_000548.5(TSC2):c.4005+1G>T rs45517324
NM_000548.5(TSC2):c.4005+7G>A rs2151514474
NM_000548.5(TSC2):c.4006-6T>C rs1060500953
NM_000548.5(TSC2):c.4008G>T (p.Ser1336=) rs760704956
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.4029G>C (p.Glu1343Asp) rs752502287
NM_000548.5(TSC2):c.4041C>T (p.Leu1347=) rs1060504109
NM_000548.5(TSC2):c.4056G>C (p.Leu1352=) rs772309833
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.5(TSC2):c.4089C>T (p.Val1363=) rs1036544111
NM_000548.5(TSC2):c.4105C>A (p.Arg1369=) rs45517328
NM_000548.5(TSC2):c.4125C>G (p.Ser1375=) rs1050512482
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys) rs1173061992
NM_000548.5(TSC2):c.4134C>G (p.Pro1378=) rs1060504081
NM_000548.5(TSC2):c.4137G>T (p.Ser1379=) rs769653533
NM_000548.5(TSC2):c.4138C>A (p.Gln1380Lys) rs137854045
NM_000548.5(TSC2):c.4143C>T (p.Pro1381=) rs1555514056
NM_000548.5(TSC2):c.4155C>T (p.Ser1385=) rs1057521540
NM_000548.5(TSC2):c.420G>A (p.Leu140=) rs876660078
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn) rs147719291
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp) rs778925833
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser) rs201710642
NM_000548.5(TSC2):c.4341C>T (p.Ser1447=) rs1060504117
NM_000548.5(TSC2):c.4351C>A (p.Arg1451Ser) rs369553241
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.4365C>T (p.Gly1455=) rs2090527409
NM_000548.5(TSC2):c.4409G>A (p.Arg1470His) rs1060500969
NM_000548.5(TSC2):c.4416C>T (p.Gly1472=) rs2090534289
NM_000548.5(TSC2):c.4420A>C (p.Arg1474=) rs766719443
NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile) rs1202676769
NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr) rs777529733
NM_000548.5(TSC2):c.444C>T (p.Asp148=) rs767968378
NM_000548.5(TSC2):c.4452C>T (p.Ala1484=) rs1555514573
NM_000548.5(TSC2):c.4461C>G (p.Ser1487=) rs777104003
NM_000548.5(TSC2):c.4465G>A (p.Ala1489Thr) rs587778740
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met) rs397515167
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.4527C>A (p.Phe1509Leu) rs775919951
NM_000548.5(TSC2):c.4554C>T (p.Ile1518=) rs1204199739
NM_000548.5(TSC2):c.4560G>T (p.Leu1520=) rs1596423200
NM_000548.5(TSC2):c.4563C>T (p.Pro1521=) rs989650743
NM_000548.5(TSC2):c.456C>T (p.His152=) rs1596265401
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu) rs45517352
NM_000548.5(TSC2):c.4605C>T (p.Asp1535=) rs1555515283
NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser) rs1060500930
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg) rs2090628516
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys) rs45517355
NM_000548.5(TSC2):c.4647T>C (p.Tyr1549=) rs397515028
NM_000548.5(TSC2):c.4663-11_4663-5del rs760527750
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr) rs777539610
NM_000548.5(TSC2):c.4684C>T (p.Leu1562=) rs1057523304
NM_000548.5(TSC2):c.4701C>G (p.Gly1567=) rs763804965
NM_000548.5(TSC2):c.4716G>T (p.Thr1572=) rs369346726
NM_000548.5(TSC2):c.4728G>C (p.Thr1576=) rs752642825
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys) rs886039446
NM_000548.5(TSC2):c.4780C>T (p.Leu1594=) rs45511204
NM_000548.5(TSC2):c.482-20T>A rs548831116
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter) rs45455296
NM_000548.5(TSC2):c.4857C>T (p.Phe1619=) rs1596443022
NM_000548.5(TSC2):c.486C>T (p.Asp162=) rs45473598
NM_000548.5(TSC2):c.4870C>T (p.Leu1624=) rs786203263
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys) rs760457821
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4947C>G (p.Val1649=) rs778989782
NM_000548.5(TSC2):c.4970T>A (p.Phe1657Tyr) rs878854112
NM_000548.5(TSC2):c.4971C>T (p.Phe1657=) rs1596444029
NM_000548.5(TSC2):c.4990-5G>T rs753000765
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=) rs551938797
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys) rs755728007
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) rs45483392
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5049G>A (p.Val1683=) rs1256890176
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn) rs137854882
NM_000548.5(TSC2):c.5069-10G>A
NM_000548.5(TSC2):c.5069-14_5069-12del rs397514923
NM_000548.5(TSC2):c.508G>A (p.Val170Ile) rs1596270815
NM_000548.5(TSC2):c.5109G>C (p.Val1703=) rs770413433
NM_000548.5(TSC2):c.5161-5C>G rs775534948
NM_000548.5(TSC2):c.5175G>A (p.Val1725=) rs886038357
NM_000548.5(TSC2):c.5211C>T (p.Pro1737=) rs151298910
NM_000548.5(TSC2):c.5212del (p.Ser1738fs) rs1596460606
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser) rs137854219
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5250C>A (p.Leu1750=) rs370353005
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.5262C>A (p.Ile1754=) rs397515318
NM_000548.5(TSC2):c.5268G>C (p.Glu1756Asp) rs755229386
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys) rs1060500957
NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro) rs1555441169
NM_000548.5(TSC2):c.5286C>T (p.Asn1762=) rs757204634
NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu) rs748936673
NM_000548.5(TSC2):c.5316C>G (p.Ser1772=) rs2151639594
NM_000548.5(TSC2):c.5322C>T (p.Ser1774=) rs751622894
NM_000548.5(TSC2):c.5355A>G (p.Thr1785=) rs1057522896
NM_000548.5(TSC2):c.5361C>A (p.Gly1787=) rs1334165353
NM_000548.5(TSC2):c.5373C>G (p.Gly1791=) rs1555441528
NM_000548.5(TSC2):c.5377C>G (p.Arg1793Gly) rs1473538868
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.5417_5418del (p.Phe1806fs)
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?) rs137854027
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter) rs45517112
NM_000548.5(TSC2):c.582C>T (p.Tyr194=) rs750174170
NM_000548.5(TSC2):c.599+3A>G rs397514899
NM_000548.5(TSC2):c.613C>T (p.Leu205=) rs1596275276
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe) rs878854120
NM_000548.5(TSC2):c.633C>G (p.Ser211=) rs762659998
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro) rs397515249
NM_000548.5(TSC2):c.674T>C (p.Val225Ala) rs1437259556
NM_000548.5(TSC2):c.729C>T (p.Leu243=) rs45473698
NM_000548.5(TSC2):c.745G>C (p.Val249Leu) rs750649974
NM_000548.5(TSC2):c.849-13G>A rs886051787
NM_000548.5(TSC2):c.849-1G>A rs45506396
NM_000548.5(TSC2):c.849-1G>C rs45506396
NM_000548.5(TSC2):c.884C>A (p.Ala295Asp) rs1596288578
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys) rs878854122
NM_000548.5(TSC2):c.953C>T (p.Ser318Phe) rs1060500970
NM_000548.5(TSC2):c.975+1G>A rs137854200

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