ClinVar Miner

List of variants studied for Tuberous sclerosis syndrome

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Total variants: 4292
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1717-55T>C rs7187438 0.43502
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_000548.5(TSC2):c.2546-12C>T rs13331451 0.21707
NM_000368.5(TSC1):c.2392-35T>C rs11243931 0.19451
NM_000548.5(TSC2):c.5260-49C>T rs13332221 0.18552
NM_000368.5(TSC1):c.1439-37C>T rs10901220 0.15700
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15655
NM_000368.5(TSC1):c.1142-33A>G rs6597586 0.15388
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_000548.5(TSC2):c.2221-28A>G rs7196184 0.11019
NM_000368.5(TSC1):c.1334-55C>G rs7872606 0.09429
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08157
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.07871
NM_000548.5(TSC2):c.1600-39C>T rs45477195 0.07469
NM_000548.5(TSC2):c.4849+97del rs142421783 0.05406
NM_000368.5(TSC1):c.2502+51A>G rs75802666 0.05189
NM_000548.5(TSC2):c.3884-56C>G rs1800724 0.05069
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_000548.5(TSC2):c.976-63G>A rs12927333 0.04770
NM_000548.5(TSC2):c.3610+42dup rs397515119 0.03758
NM_000548.5(TSC2):c.*26G>A rs13332015 0.03592
NM_000368.5(TSC1):c.*913C>T rs117425923 0.03508
NM_000548.5(TSC2):c.3883+78G>A rs1800705 0.02672
NM_000368.5(TSC1):c.2976-43G>C rs7853849 0.02474
NM_000368.5(TSC1):c.*1487C>T rs79277527 0.02462
NM_000368.5(TSC1):c.*107T>C rs116917669 0.02353
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02105
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02063
NC_000009.12:g.132891337C>T rs79220715 0.01804
NM_000548.5(TSC2):c.*127T>C rs34379884 0.01771
NM_000368.5(TSC1):c.*1468C>T rs72759433 0.01681
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01297
NM_000368.5(TSC1):c.-129A>T rs116951280 0.01206
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_000548.5(TSC2):c.4849+76G>A rs144647393 0.01144
NM_000548.5(TSC2):c.2546-31G>A rs145738496 0.00979
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384 0.00977
NM_000548.5(TSC2):c.4569+44C>T rs142227748 0.00905
NM_000548.5(TSC2):c.2097+43A>G rs186681035 0.00890
NM_000548.5(TSC2):c.4990-7C>T rs45457095 0.00888
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00888
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742 0.00810
NM_000548.5(TSC2):c.600-84C>T rs35364892 0.00785
NM_000368.5(TSC1):c.2976-54G>A rs118203740 0.00757
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00731
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00705
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166 0.00702
NM_000368.5(TSC1):c.210+33G>A rs118203350 0.00695
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_000548.5(TSC2):c.2743-40A>G rs45517265 0.00586
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00558
NM_000548.5(TSC2):c.2545+31C>T rs45517243 0.00548
NM_000548.5(TSC2):c.1258-32dup rs397515240 0.00527
NM_000548.5(TSC2):c.648+117C>G rs45460197 0.00482
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_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_000548.5(TSC2):c.336+32C>T rs45517103 0.00456
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875 0.00415
NM_000548.5(TSC2):c.2220+25G>C rs149860839 0.00414
NM_000548.5(TSC2):c.1362-32C>G rs45517166 0.00391
NM_000548.5(TSC2):c.3132-30A>G rs45517283 0.00386
NM_000548.5(TSC2):c.2640-26G>T rs45483797 0.00380
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_000548.5(TSC2):c.1443+18C>T rs375947241 0.00350
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354 0.00349
NM_000548.5(TSC2):c.848+7G>A rs45442896 0.00348
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141 0.00348
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00346
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_000548.5(TSC2):c.-65G>C rs563544506 0.00342
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097 0.00297
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00291
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00272
NM_000368.5(TSC1):c.106+15A>G rs80258442 0.00266
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00259
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00242
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_000368.5(TSC1):c.1263+88A>G rs118203507 0.00228
NM_000548.5(TSC2):c.*35G>A rs200025534 0.00226
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071 0.00209
NM_000548.5(TSC2):c.*71C>T rs45498900 0.00205
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00152
NM_000548.5(TSC2):c.3815-15G>A rs45480591 0.00149
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00147
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000548.5(TSC2):c.2565C>T (p.His855=) rs143537386 0.00138
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00119
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992 0.00109
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792 0.00108
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00103
NM_000368.5(TSC1):c.876C>T (p.Val292=) rs116756594 0.00096
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00094
NM_000548.5(TSC2):c.5161-9C>T rs45515893 0.00094
NM_000548.5(TSC2):c.482-59G>A rs200833855 0.00090
NM_000548.5(TSC2):c.262C>T (p.Leu88=) rs45485999 0.00086
NM_000548.5(TSC2):c.2838-4A>G rs45517272 0.00085
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397 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.255C>T (p.Val85=) rs45517098 0.00082
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_000368.5(TSC1):c.552G>C (p.Val184=) rs118203397 0.00079
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_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00070
NM_000368.5(TSC1):c.*358C>T rs147729052 0.00068
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00068
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171 0.00067
NM_000548.5(TSC2):c.2742+13C>T rs45517260 0.00065
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln) rs118203543 0.00064
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903 0.00063
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) rs200494044 0.00061
NM_000548.5(TSC2):c.5068+40G>A rs185211341 0.00061
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691 0.00057
NM_000548.5(TSC2):c.3284+45G>A rs140027616 0.00055
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684 0.00054
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505 0.00054
NM_000548.5(TSC2):c.2356-63A>C rs45517230 0.00052
NM_000548.5(TSC2):c.3131+34C>T rs45487103 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.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_000548.5(TSC2):c.1821G>A (p.Ala607=) rs149543046 0.00050
NM_000548.5(TSC2):c.2640-13C>T rs201184637 0.00050
NM_000548.5(TSC2):c.2073C>T (p.Arg691=) rs45512398 0.00048
NM_000548.5(TSC2):c.2837+80C>T rs137854131 0.00048
NM_000548.5(TSC2):c.1839+6G>A rs45517204 0.00046
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu) rs137854214 0.00046
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00042
NM_000548.5(TSC2):c.3610+9C>T rs45467194 0.00042
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro) rs377598226 0.00041
NM_000548.5(TSC2):c.2296G>A (p.Val766Met) rs150672640 0.00041
NM_000548.5(TSC2):c.4869C>T (p.Thr1623=) rs150239180 0.00041
NM_000368.5(TSC1):c.1773G>A (p.Pro591=) rs146578402 0.00040
NM_000548.5(TSC2):c.138+20C>G rs45517092 0.00040
NM_000368.5(TSC1):c.2505C>T (p.Leu835=) rs112384441 0.00039
NM_000548.5(TSC2):c.1717-30G>A rs45500703 0.00038
NM_000548.5(TSC2):c.3883+37C>T rs45517315 0.00038
NM_000548.5(TSC2):c.482-27C>T rs200473689 0.00037
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155 0.00036
NM_000548.5(TSC2):c.291C>G (p.Ala97=) rs137933794 0.00036
NM_000548.5(TSC2):c.1444-40G>A rs45460191 0.00035
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205 0.00034
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=) rs200200869 0.00033
NM_000548.5(TSC2):c.2097+35G>A rs45517211 0.00033
NM_000548.5(TSC2):c.2743-3C>A rs45517264 0.00033
NM_000548.5(TSC2):c.1512C>G (p.Val504=) rs146359990 0.00032
NM_000548.5(TSC2):c.4272C>T (p.Asp1424=) rs371541319 0.00032
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_000548.5(TSC2):c.849-24C>T rs373618207 0.00031
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00030
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000368.5(TSC1):c.2626-4T>C rs777386691 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148 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.3611-10G>A rs372045362 0.00027
NM_000548.5(TSC2):c.3747G>A (p.Leu1249=) rs199593904 0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_000548.5(TSC2):c.5068+9G>A rs45445593 0.00026
NM_000368.5(TSC1):c.1264-12T>C rs118203508 0.00025
NM_000548.5(TSC2):c.1170G>A (p.Thr390=) rs376144933 0.00025
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295 0.00025
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307 0.00025
NM_000548.5(TSC2):c.4095G>A (p.Ser1365=) rs139630605 0.00025
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995 0.00025
NM_000548.5(TSC2):c.2451C>T (p.Asp817=) rs201442542 0.00024
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp) rs118203723 0.00023
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_000548.5(TSC2):c.4663-38_4663-18dup rs137854102 0.00023
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp) rs118203483 0.00022
NM_000548.5(TSC2):c.1443+4C>T rs45517172 0.00022
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223 0.00022
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493 0.00022
NM_000368.5(TSC1):c.1998-53G>A rs368679682 0.00021
NM_000548.5(TSC2):c.1119+23G>A rs180840428 0.00021
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser) rs144165984 0.00021
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638 0.00021
NM_000548.5(TSC2):c.4006-30_4006-29del rs397515235 0.00021
NM_000548.5(TSC2):c.2837+11dup rs137854204 0.00020
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=) rs373968155 0.00020
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000548.5(TSC2):c.1377C>T (p.Gly459=) rs45517170 0.00019
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500 0.00019
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529 0.00019
NM_000548.5(TSC2):c.3892G>A (p.Val1298Met) rs147284943 0.00019
NM_000548.5(TSC2):c.4662+17G>A rs45443002 0.00019
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695 0.00019
NM_000368.5(TSC1):c.*4248C>T rs886063567 0.00018
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895 0.00018
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691 0.00018
NM_000548.5(TSC2):c.148A>G (p.Met50Val) rs140618379 0.00017
NM_000548.5(TSC2):c.3814+56C>T rs45517312 0.00017
NM_000548.5(TSC2):c.3942C>T (p.Pro1314=) rs759988275 0.00017
NM_000548.5(TSC2):c.4493+18G>A rs45454201 0.00017
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=) rs182327684 0.00017
NM_000368.5(TSC1):c.201A>G (p.Pro67=) rs371555137 0.00016
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=) rs140352085 0.00016
NM_000368.5(TSC1):c.663+29A>G rs376472527 0.00016
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223 0.00016
NM_000548.5(TSC2):c.2639+42C>T rs201973730 0.00016
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=) rs368923127 0.00016
NM_000548.5(TSC2):c.4493+17C>T rs45517345 0.00016
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391 0.00016
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000548.5(TSC2):c.2097+28G>A rs397514882 0.00015
NM_000548.5(TSC2):c.2356-15T>A rs189674303 0.00015
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100 0.00015
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084 0.00015
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=) rs144965811 0.00015
NM_000548.5(TSC2):c.552C>T (p.Val184=) rs199991910 0.00015
NM_000548.5(TSC2):c.649-26G>T rs201910214 0.00015
NM_000368.5(TSC1):c.1333+13C>T rs118203516 0.00014
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000548.5(TSC2):c.1362-10C>T rs45446697 0.00014
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg) rs137854215 0.00014
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp) rs373939435 0.00014
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=) rs200346578 0.00014
NM_000548.5(TSC2):c.4493+7C>A rs199943270 0.00014
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409 0.00014
NM_000368.5(TSC1):c.2209-3T>C rs368309229 0.00013
NM_000368.5(TSC1):c.249C>T (p.Ala83=) rs145783693 0.00013
NM_000548.5(TSC2):c.*5G>A rs201342697 0.00013
NM_000548.5(TSC2):c.1362-70A>C rs45517168 0.00013
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801 0.00013
NM_000548.5(TSC2):c.4398G>T (p.Ser1466=) rs376086638 0.00013
NM_000548.5(TSC2):c.5069-21G>A rs45517390 0.00013
NM_000548.5(TSC2):c.5200G>A (p.Asp1734Asn) rs751990617 0.00013
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val) rs397514880 0.00012
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 0.00012
NM_000368.5(TSC1):c.210+18A>G rs118203349 0.00012
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr) rs118203721 0.00012
NM_000368.5(TSC1):c.467A>C (p.Asp156Ala) rs893232039 0.00012
NM_000368.5(TSC1):c.618T>C (p.His206=) rs118203415 0.00012
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.3919G>A (p.Glu1307Lys) rs62642481 0.00012
NM_000548.5(TSC2):c.4493+16C>G rs45491597 0.00012
NM_000548.5(TSC2):c.5160+23G>A rs368565375 0.00012
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln) rs118203692 0.00011
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys) rs145470784 0.00011
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421 0.00011
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595 0.00011
NM_000548.5(TSC2):c.3832C>T (p.Leu1278=) rs374146919 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.5364T>C (p.Tyr1788=) rs367703283 0.00011
NM_000368.5(TSC1):c.-16G>A rs114970627 0.00010
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779 0.00010
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=) rs118203751 0.00010
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238 0.00010
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331 0.00010
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser) rs144062721 0.00010
NM_000548.5(TSC2):c.4620C>T (p.Tyr1540=) rs45455897 0.00010
NM_000368.5(TSC1):c.1333+5A>G rs118203515 0.00009
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.1717-28C>T rs45517195 0.00009
NM_000548.5(TSC2):c.3990G>A (p.Thr1330=) rs369943684 0.00009
NM_000548.5(TSC2):c.4047G>A (p.Ala1349=) rs45468491 0.00009
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=) rs137854000 0.00009
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042 0.00009
NM_000368.5(TSC1):c.1567G>C (p.Ala523Pro) rs118203548 0.00008
NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu) rs45517188 0.00008
NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys) rs397514938 0.00008
NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met) rs776738338 0.00008
NM_000548.5(TSC2):c.4662+18G>A rs45517357 0.00008
NM_000548.5(TSC2):c.4849+48C>T rs376861903 0.00008
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys) rs45517126 0.00008
NM_000368.5(TSC1):c.1051A>G (p.Met351Val) rs781312535 0.00007
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00007
NM_000368.5(TSC1):c.1302A>G (p.Arg434=) rs907840461 0.00007
NM_000368.5(TSC1):c.2209-9C>G rs118203660 0.00007
NM_000368.5(TSC1):c.2626-3_2626-2insT rs760737807 0.00007
NM_000548.5(TSC2):c.*7G>A rs765016970 0.00007
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg) rs367963898 0.00007
NM_000548.5(TSC2):c.1642A>C (p.Arg548=) rs565375272 0.00007
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515 0.00007
NM_000548.5(TSC2):c.1946+15G>A rs752601710 0.00007
NM_000548.5(TSC2):c.2743-9C>T rs397515319 0.00007
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met) rs137854410 0.00007
NM_000548.5(TSC2):c.3815-27G>A rs137854008 0.00007
NM_000548.5(TSC2):c.4006-21C>T rs397515012 0.00007
NM_000548.5(TSC2):c.4008G>A (p.Ser1336=) rs760704956 0.00007
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065 0.00007
NM_000548.5(TSC2):c.4521C>T (p.Ser1507=) rs140081676 0.00007
NM_000548.5(TSC2):c.4569+12C>T rs45517350 0.00007
NM_000548.5(TSC2):c.465C>T (p.Tyr155=) rs45444196 0.00007
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152 0.00007
NM_000548.5(TSC2):c.5016C>T (p.Ile1672=) rs370770569 0.00007
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392 0.00007
NM_000548.5(TSC2):c.5334A>G (p.Ala1778=) rs371580877 0.00007
NM_000548.5(TSC2):c.600-15C>T rs369708731 0.00007
NM_000548.5(TSC2):c.630G>A (p.Ala210=) rs567756494 0.00007
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu) rs139060277 0.00007
NM_000548.5(TSC2):c.775-4G>A rs754957491 0.00007
NM_000548.5(TSC2):c.926T>A (p.Leu309His) rs75348431 0.00007
NM_000548.5(TSC2):c.927C>G (p.Leu309=) rs79786059 0.00007
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile) rs201452238 0.00006
NM_000368.5(TSC1):c.1209G>A (p.Ser403=) rs141184479 0.00006
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu) rs751247705 0.00006
NM_000368.5(TSC1):c.513C>T (p.His171=) rs377196837 0.00006
NM_000548.5(TSC2):c.*77G>A rs886051799 0.00006
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591 0.00006
NM_000548.5(TSC2):c.1341G>A (p.Ala447=) rs141609319 0.00006
NM_000548.5(TSC2):c.1716+28C>A rs371524563 0.00006
NM_000548.5(TSC2):c.1717-15G>T rs372949465 0.00006
NM_000548.5(TSC2):c.1731C>T (p.Thr577=) rs144122318 0.00006
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) rs760489473 0.00006
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile) rs146745242 0.00006
NM_000548.5(TSC2):c.3132-16G>A rs199572528 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.3733C>T (p.Arg1245Trp) rs777489742 0.00006
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=) rs144891432 0.00006
NM_000548.5(TSC2):c.399C>T (p.Asn133=) rs746704620 0.00006
NM_000548.5(TSC2):c.4351C>G (p.Arg1451Gly) rs369553241 0.00006
NM_000548.5(TSC2):c.4533C>T (p.Gly1511=) rs201126835 0.00006
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=) rs145033857 0.00006
NM_000548.5(TSC2):c.4794C>T (p.Asp1598=) rs548102930 0.00006
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met) rs772687631 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.708C>T (p.Leu236=) rs756121647 0.00006
NM_000368.5(TSC1):c.1047A>G (p.Pro349=) rs118203492 0.00005
NM_000368.5(TSC1):c.1110A>T (p.Ser370=) rs371648887 0.00005
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000368.5(TSC1):c.231C>T (p.Asn77=) rs397514809 0.00005
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln) rs200514807 0.00005
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839 0.00005
NM_000368.5(TSC1):c.3210G>A (p.Ala1070=) rs201165286 0.00005
NM_000368.5(TSC1):c.402G>A (p.Leu134=) rs147125501 0.00005
NM_000368.5(TSC1):c.73G>A (p.Val25Met) rs1230244328 0.00005
NM_000368.5(TSC1):c.853T>G (p.Phe285Val) rs377076733 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.-34G>A rs559641280 0.00005
NM_000548.5(TSC2):c.1293G>A (p.Ala431=) rs45517162 0.00005
NM_000548.5(TSC2):c.1398G>A (p.Leu466=) rs200702857 0.00005
NM_000548.5(TSC2):c.1717-27G>A rs45517194 0.00005
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val) rs397515296 0.00005
NM_000548.5(TSC2):c.1874C>T (p.Ser625Leu) rs368285556 0.00005
NM_000548.5(TSC2):c.2220+4C>G rs781186613 0.00005
NM_000548.5(TSC2):c.2546-6C>T rs372088609 0.00005
NM_000548.5(TSC2):c.2639+10C>T rs137854378 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.2967-6C>T rs200746335 0.00005
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=) rs146734084 0.00005
NM_000548.5(TSC2):c.3666C>T (p.Asp1222=) rs749870079 0.00005
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000548.5(TSC2):c.4298C>T (p.Ser1433Leu) rs45517335 0.00005
NM_000548.5(TSC2):c.4849+12C>T rs45517373 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_000548.5(TSC2):c.781C>T (p.Arg261Trp) rs45517130 0.00005
NM_000548.5(TSC2):c.975+8G>A rs137853984 0.00005
NM_000368.5(TSC1):c.-11C>T rs570705364 0.00004
NM_000368.5(TSC1):c.110G>A (p.Arg37His) rs750441497 0.00004
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg) rs762688935 0.00004
NM_000368.5(TSC1):c.1332A>G (p.Ser444=) rs773003016 0.00004
NM_000368.5(TSC1):c.1884A>G (p.Leu628=) rs1038140620 0.00004
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val) rs118203609 0.00004
NM_000368.5(TSC1):c.2115G>A (p.Glu705=) rs142662480 0.00004
NM_000368.5(TSC1):c.2626-3del rs886063622 0.00004
NM_000368.5(TSC1):c.2814-27A>G rs118203738 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_000368.5(TSC1):c.942G>A (p.Thr314=) rs144208203 0.00004
NM_000548.5(TSC2):c.-82G>T rs1391750751 0.00004
NM_000548.5(TSC2):c.1131C>T (p.Ser377=) rs201525586 0.00004
NM_000548.5(TSC2):c.1245G>A (p.Ala415=) rs757325185 0.00004
NM_000548.5(TSC2):c.1303C>T (p.His435Tyr) rs760896048 0.00004
NM_000548.5(TSC2):c.1365C>T (p.Ser455=) rs34567401 0.00004
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694 0.00004
NM_000548.5(TSC2):c.1730C>T (p.Thr577Ile) rs770895919 0.00004
NM_000548.5(TSC2):c.1752G>A (p.Thr584=) rs141285742 0.00004
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761 0.00004
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln) rs45517206 0.00004
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu) rs397515288 0.00004
NM_000548.5(TSC2):c.2049C>T (p.Ser683=) rs569518378 0.00004
NM_000548.5(TSC2):c.2539C>T (p.Leu847=) rs377300009 0.00004
NM_000548.5(TSC2):c.2545+10C>T rs45517241 0.00004
NM_000548.5(TSC2):c.258G>A (p.Ala86=) rs397514912 0.00004
NM_000548.5(TSC2):c.2742+15G>A rs45517261 0.00004
NM_000548.5(TSC2):c.2742+6C>T rs377568673 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.2963G>C (p.Arg988Pro) rs397515306 0.00004
NM_000548.5(TSC2):c.3192C>A (p.Asn1064Lys) rs201670791 0.00004
NM_000548.5(TSC2):c.3225C>T (p.Thr1075=) rs374145104 0.00004
NM_000548.5(TSC2):c.3584C>T (p.Ala1195Val) rs773951533 0.00004
NM_000548.5(TSC2):c.3851A>G (p.Gln1284Arg) rs944693159 0.00004
NM_000548.5(TSC2):c.3870C>T (p.Ser1290=) rs754466663 0.00004
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile) rs201135184 0.00004
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg) rs45462593 0.00004
NM_000548.5(TSC2):c.4299G>A (p.Ser1433=) rs749358180 0.00004
NM_000548.5(TSC2):c.4392C>T (p.Ser1464=) rs528080018 0.00004
NM_000548.5(TSC2):c.4852G>A (p.Val1618Ile) rs377129517 0.00004
NM_000548.5(TSC2):c.4867A>T (p.Thr1623Ser) rs749501410 0.00004
NM_000548.5(TSC2):c.5010C>T (p.His1670=) rs376306544 0.00004
NM_000548.5(TSC2):c.5034C>T (p.Tyr1678=) rs45467993 0.00004
NM_000548.5(TSC2):c.5161-4C>G rs45517406 0.00004
NM_000548.5(TSC2):c.5234G>A (p.Arg1745His) rs766093661 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.5313G>A (p.Pro1771=) rs765607686 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.585C>T (p.Ile195=) rs397515309 0.00004
NM_000548.5(TSC2):c.758G>A (p.Cys253Tyr) rs766547457 0.00004
NM_000548.5(TSC2):c.759C>T (p.Cys253=) rs45517125 0.00004
NM_000548.5(TSC2):c.989C>T (p.Pro330Leu) rs140910086 0.00004
NC_000009.12:g.132944641C>A rs571288003 0.00003
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln) rs397514808 0.00003
NM_000368.5(TSC1):c.1113C>T (p.His371=) rs771217333 0.00003
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe) rs1461609607 0.00003
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) rs397514840 0.00003
NM_000368.5(TSC1):c.1317G>C (p.Leu439=) rs770692313 0.00003
NM_000368.5(TSC1):c.1344T>G (p.Pro448=) rs530908428 0.00003
NM_000368.5(TSC1):c.1439-4T>C rs762473323 0.00003
NM_000368.5(TSC1):c.1584C>T (p.Gly528=) rs149439187 0.00003
NM_000368.5(TSC1):c.1635T>C (p.Pro545=) rs372284519 0.00003
NM_000368.5(TSC1):c.1878G>A (p.Glu626=) rs753424167 0.00003
NM_000368.5(TSC1):c.1922C>A (p.Pro641His) rs397514863 0.00003
NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly) rs939275328 0.00003
NM_000368.5(TSC1):c.1974C>T (p.Asp658=) rs118203608 0.00003
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln) rs1336228562 0.00003
NM_000368.5(TSC1):c.2478G>C (p.Leu826=) rs149719514 0.00003
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser) rs76801599 0.00003
NM_000368.5(TSC1):c.2700G>A (p.Gln900=) rs560986491 0.00003
NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg) rs1433723046 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.3428C>T (p.Pro1143Leu) rs201867031 0.00003
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr) rs1007335343 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln) rs755859330 0.00003
NM_000368.5(TSC1):c.738-20A>G rs397514824 0.00003
NM_000368.5(TSC1):c.840A>G (p.Gln280=) rs1171852730 0.00003
NM_000368.5(TSC1):c.87T>C (p.Phe29=) rs745384145 0.00003
NM_000368.5(TSC1):c.932C>G (p.Pro311Arg) rs776158460 0.00003
NM_000368.5(TSC1):c.941C>T (p.Thr314Met) rs373454700 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.1095C>T (p.Ile365=) rs757135168 0.00003
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) rs45517148 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.1332C>T (p.Asn444=) rs535984356 0.00003
NM_000548.5(TSC2):c.139-15T>G rs563094714 0.00003
NM_000548.5(TSC2):c.1600-10C>T rs768188836 0.00003
NM_000548.5(TSC2):c.1600-9T>C rs886043268 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.1751C>T (p.Thr584Met) rs751147419 0.00003
NM_000548.5(TSC2):c.1753C>T (p.Arg585Cys) rs370324876 0.00003
NM_000548.5(TSC2):c.1775G>A (p.Ser592Asn) rs374371998 0.00003
NM_000548.5(TSC2):c.1815A>G (p.Pro605=) rs961687056 0.00003
NM_000548.5(TSC2):c.1840-11C>G rs754804519 0.00003
NM_000548.5(TSC2):c.1840-14C>T rs539450042 0.00003
NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys) rs45437797 0.00003
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp) rs766451267 0.00003
NM_000548.5(TSC2):c.1987C>T (p.Leu663Phe) rs747516623 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.2034C>T (p.Ala678=) rs781740263 0.00003
NM_000548.5(TSC2):c.2039G>A (p.Arg680Gln) rs756536921 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.2218A>G (p.Met740Val) rs757345150 0.00003
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser) rs562945619 0.00003
NM_000548.5(TSC2):c.2437G>A (p.Val813Met) rs375030314 0.00003
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala) rs781713438 0.00003
NM_000548.5(TSC2):c.2668C>T (p.His890Tyr) rs145258407 0.00003
NM_000548.5(TSC2):c.2743-11C>T rs137854426 0.00003
NM_000548.5(TSC2):c.2760C>A (p.Val920=) rs149490538 0.00003
NM_000548.5(TSC2):c.2781C>T (p.Thr927=) rs376275903 0.00003
NM_000548.5(TSC2):c.2838-10C>T rs1596374422 0.00003
NM_000548.5(TSC2):c.2838-123C>T rs922114187 0.00003
NM_000548.5(TSC2):c.2873A>G (p.Asn958Ser) rs397515104 0.00003
NM_000548.5(TSC2):c.2967-13C>T rs536150612 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.3036C>T (p.Asp1012=) rs144997264 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.3159G>A (p.Ala1053=) rs765689518 0.00003
NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe) rs886051793 0.00003
NM_000548.5(TSC2):c.3210G>A (p.Thr1070=) rs539927192 0.00003
NM_000548.5(TSC2):c.3240A>G (p.Leu1080=) rs371514669 0.00003
NM_000548.5(TSC2):c.3252C>G (p.Asp1084Glu) rs45517286 0.00003
NM_000548.5(TSC2):c.325G>A (p.Val109Met) rs369932305 0.00003
NM_000548.5(TSC2):c.3342C>T (p.Ser1114=) rs755871381 0.00003
NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val) rs397514945 0.00003
NM_000548.5(TSC2):c.3476G>T (p.Arg1159Leu) rs45473098 0.00003
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=) rs769562717 0.00003
NM_000548.5(TSC2):c.3552G>A (p.Ala1184=) rs549427685 0.00003
NM_000548.5(TSC2):c.3585G>A (p.Ala1195=) rs761232933 0.00003
NM_000548.5(TSC2):c.3610+25G>C rs45517300 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.3981C>T (p.Asp1327=) rs876659087 0.00003
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209 0.00003
NM_000548.5(TSC2):c.4086C>T (p.Val1362=) rs763847509 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.4218C>T (p.Asp1406=) rs886051794 0.00003
NM_000548.5(TSC2):c.4219G>A (p.Val1407Met) rs45517332 0.00003
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu) rs137854406 0.00003
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=) rs536527623 0.00003
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe) rs759004251 0.00003
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu) rs45517339 0.00003
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter) rs45517340 0.00003
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu) rs45517341 0.00003
NM_000548.5(TSC2):c.4410C>T (p.Arg1470=) rs539032553 0.00003
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys) rs376946970 0.00003
NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn) rs45517343 0.00003
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=) rs758374702 0.00003
NM_000548.5(TSC2):c.4446C>T (p.Ser1482=) rs780955293 0.00003
NM_000548.5(TSC2):c.4493+25G>T rs397514890 0.00003
NM_000548.5(TSC2):c.450G>A (p.Gly150=) rs372000734 0.00003
NM_000548.5(TSC2):c.454C>G (p.His152Asp) rs397515285 0.00003
NM_000548.5(TSC2):c.4570-66G>A rs45496499 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.4849+5G>A rs1198379006 0.00003
NM_000548.5(TSC2):c.4854C>T (p.Val1618=) rs45517378 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.5095G>A (p.Val1699Met) rs370864445 0.00003
NM_000548.5(TSC2):c.5161-5C>A rs775534948 0.00003
NM_000548.5(TSC2):c.5181T>C (p.His1727=) rs767191593 0.00003
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys) rs375075952 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.734G>A (p.Arg245His) rs397515011 0.00003
NM_000548.5(TSC2):c.828G>A (p.Met276Ile) rs1318274503 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_000548.5(TSC2):c.921C>G (p.His307Gln) rs878854121 0.00003
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp) rs201144475 0.00003
NM_000368.5(TSC1):c.*2949A>T rs886063588 0.00002
NM_000368.5(TSC1):c.1020A>G (p.Glu340=) rs760233114 0.00002
NM_000368.5(TSC1):c.1030-14T>A rs180810228 0.00002
NM_000368.5(TSC1):c.106+5G>A rs1554820973 0.00002
NM_000368.5(TSC1):c.111T>C (p.Arg37=) rs966292723 0.00002
NM_000368.5(TSC1):c.126A>C (p.Val42=) rs118203335 0.00002
NM_000368.5(TSC1):c.1273A>G (p.Met425Val) rs753199284 0.00002
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val) rs1489175329 0.00002
NM_000368.5(TSC1):c.1439-25C>A rs397514813 0.00002
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu) rs770570830 0.00002
NM_000368.5(TSC1):c.167C>T (p.Pro56Leu) rs750512029 0.00002
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu) rs1269162063 0.00002
NM_000368.5(TSC1):c.2034C>T (p.His678=) rs201392975 0.00002
NM_000368.5(TSC1):c.2077G>C (p.Asp693His) rs397514800 0.00002
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp) rs1264839312 0.00002
NM_000368.5(TSC1):c.2303G>A (p.Arg768His) rs1033725987 0.00002
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe) rs868755168 0.00002
NM_000368.5(TSC1):c.2424G>A (p.Ala808=) rs200651872 0.00002
NM_000368.5(TSC1):c.2626-2dup rs2131640407 0.00002
NM_000368.5(TSC1):c.2665G>A (p.Glu889Lys) rs775589156 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.3080G>A (p.Arg1027Gln) rs796053461 0.00002
NM_000368.5(TSC1):c.3112A>G (p.Ser1038Gly) rs768443391 0.00002
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr) rs112066743 0.00002
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=) rs118203746 0.00002
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=) rs749995749 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.370A>G (p.Thr124Ala) rs745871522 0.00002
NM_000368.5(TSC1):c.509-13G>A rs746269100 0.00002
NM_000368.5(TSC1):c.531C>T (p.Leu177=) rs752615412 0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=) rs202242304 0.00002
NM_000368.5(TSC1):c.696A>G (p.Glu232=) rs1588345709 0.00002
NM_000368.5(TSC1):c.69C>T (p.Asp23=) rs769282604 0.00002
NM_000368.5(TSC1):c.720T>G (p.His240Gln) rs779872953 0.00002
NM_000368.5(TSC1):c.762T>C (p.Asp254=) rs780005416 0.00002
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu) rs148756522 0.00002
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg) rs796053452 0.00002
NM_000548.5(TSC2):c.1015G>A (p.Val339Ile) rs559727962 0.00002
NM_000548.5(TSC2):c.101A>C (p.Lys34Thr) rs777988634 0.00002
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.1119+6G>C rs397515305 0.00002
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu) rs45517154 0.00002
NM_000548.5(TSC2):c.1194C>T (p.Asn398=) rs369172347 0.00002
NM_000548.5(TSC2):c.1257+8C>A rs767392684 0.00002
NM_000548.5(TSC2):c.1258-5G>T rs925954967 0.00002
NM_000548.5(TSC2):c.1309G>C (p.Ala437Pro) rs764967942 0.00002
NM_000548.5(TSC2):c.139-6C>T rs778516569 0.00002
NM_000548.5(TSC2):c.1444-13T>C rs45447093 0.00002
NM_000548.5(TSC2):c.1458C>T (p.Asn486=) rs200532154 0.00002
NM_000548.5(TSC2):c.1491C>T (p.Pro497=) rs781367910 0.00002
NM_000548.5(TSC2):c.1600-21G>C rs137854149 0.00002
NM_000548.5(TSC2):c.1601T>G (p.Val534Gly) rs924098595 0.00002
NM_000548.5(TSC2):c.1818C>T (p.Ile606=) rs547389841 0.00002
NM_000548.5(TSC2):c.1842C>G (p.Ala614=) rs201575136 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.2027G>T (p.Gly676Val) rs754556513 0.00002
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg) rs1489623582 0.00002
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln) rs766442736 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.2415C>T (p.Val805=) rs45517235 0.00002
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val) rs45517249 0.00002
NM_000548.5(TSC2):c.2607C>T (p.Phe869=) rs750336814 0.00002
NM_000548.5(TSC2):c.2628C>T (p.Thr876=) rs778678783 0.00002
NM_000548.5(TSC2):c.2674G>A (p.Val892Ile) rs376801256 0.00002
NM_000548.5(TSC2):c.270G>A (p.Gln90=) rs779310889 0.00002
NM_000548.5(TSC2):c.2962C>T (p.Arg988Cys) rs763047420 0.00002
NM_000548.5(TSC2):c.298G>A (p.Ala100Thr) rs369314296 0.00002
NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn) rs149808366 0.00002
NM_000548.5(TSC2):c.3028C>G (p.Gln1010Glu) rs45514100 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.3285-19C>T rs45517291 0.00002
NM_000548.5(TSC2):c.3285-5C>T rs1444989940 0.00002
NM_000548.5(TSC2):c.344G>A (p.Arg115His) rs764529584 0.00002
NM_000548.5(TSC2):c.3482C>T (p.Ala1161Val) rs397514901 0.00002
NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu) rs778069675 0.00002
NM_000548.5(TSC2):c.354C>G (p.Val118=) rs762228318 0.00002
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=) rs754945653 0.00002
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg) rs767059758 0.00002
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys) rs1020561347 0.00002
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val) rs371239156 0.00002
NM_000548.5(TSC2):c.3993T>A (p.Asp1331Glu) rs776049462 0.00002
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys) rs397515035 0.00002
NM_000548.5(TSC2):c.4057G>A (p.Val1353Ile) rs373982157 0.00002
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=) rs150999168 0.00002
NM_000548.5(TSC2):c.408T>G (p.Leu136=) rs1037058497 0.00002
NM_000548.5(TSC2):c.4090T>G (p.Ser1364Ala) rs756957699 0.00002
NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala) rs755461310 0.00002
NM_000548.5(TSC2):c.411C>T (p.His137=) rs776129896 0.00002
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=) rs769653533 0.00002
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=) rs911307922 0.00002
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val) rs757579310 0.00002
NM_000548.5(TSC2):c.4292C>T (p.Ser1431Leu) rs375785710 0.00002
NM_000548.5(TSC2):c.431A>G (p.Lys144Arg) rs769286175 0.00002
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) rs45517338 0.00002
NM_000548.5(TSC2):c.4436C>T (p.Ala1479Val) rs397515242 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.4585C>T (p.Arg1529Trp) rs1051502900 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.4617A>G (p.Ser1539=) rs201038907 0.00002
NM_000548.5(TSC2):c.4662+16C>T rs45517356 0.00002
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=) rs151140709 0.00002
NM_000548.5(TSC2):c.482-14C>T rs757054946 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.4973A>G (p.Lys1658Arg) rs1050594534 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.5160+7G>C rs45506600 0.00002
NM_000548.5(TSC2):c.5193C>T (p.Asn1731=) rs753336580 0.00002
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys) rs781630603 0.00002
NM_000548.5(TSC2):c.5260-12C>T rs769264472 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.5279A>G (p.Tyr1760Cys) rs1261020269 0.00002
NM_000548.5(TSC2):c.5301G>C (p.Leu1767=) rs886051798 0.00002
NM_000548.5(TSC2):c.5328C>T (p.Ala1776=) rs757292336 0.00002
NM_000548.5(TSC2):c.5396C>T (p.Ser1799Leu) rs778484981 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.848G>A (p.Arg283Lys) rs1255519055 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_000368.4(TSC1):c.-227G>A rs886063629 0.00001
NM_000368.5(TSC1):c.*1396T>C rs397514790 0.00001
NM_000368.5(TSC1):c.*1519del rs886063607 0.00001
NM_000368.5(TSC1):c.*333C>A rs886063618 0.00001
NM_000368.5(TSC1):c.*4845G>T rs886063562 0.00001
NM_000368.5(TSC1):c.-10G>A rs756989263 0.00001
NM_000368.5(TSC1):c.1002G>A (p.Ser334=) rs200820603 0.00001
NM_000368.5(TSC1):c.1050T>C (p.Ser350=) rs150777389 0.00001
NM_000368.5(TSC1):c.1054G>A (p.Val352Ile) rs796053447 0.00001
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr) rs876660024 0.00001
NM_000368.5(TSC1):c.106+4A>G rs373075566 0.00001
NM_000368.5(TSC1):c.107-15C>T rs1448464915 0.00001
NM_000368.5(TSC1):c.1078A>C (p.Thr360Pro) rs201738258 0.00001
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser) rs397514864 0.00001
NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala) rs1412914051 0.00001
NM_000368.5(TSC1):c.109C>T (p.Arg37Cys) rs1309560054 0.00001
NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala) rs760638759 0.00001
NM_000368.5(TSC1):c.1116T>C (p.Pro372=) rs1311647964 0.00001
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512 0.00001
NM_000368.5(TSC1):c.1144G>A (p.Gly382Ser) rs367564729 0.00001
NM_000368.5(TSC1):c.1159C>T (p.Pro387Ser) rs1845906327 0.00001
NM_000368.5(TSC1):c.1166G>A (p.Gly389Glu) rs752575728 0.00001
NM_000368.5(TSC1):c.1191A>G (p.Pro397=) rs370281825 0.00001
NM_000368.5(TSC1):c.1193C>T (p.Ala398Val) rs918660416 0.00001
NM_000368.5(TSC1):c.1200C>G (p.Leu400=) rs767514820 0.00001
NM_000368.5(TSC1):c.1206T>C (p.His402=) rs1845902050 0.00001
NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys) rs143502728 0.00001
NM_000368.5(TSC1):c.121C>T (p.Leu41Phe) rs118203334 0.00001
NM_000368.5(TSC1):c.1233C>T (p.Leu411=) rs1588321365 0.00001
NM_000368.5(TSC1):c.1237C>G (p.Gln413Glu) rs1588321339 0.00001
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg) rs1060503218 0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000368.5(TSC1):c.1257C>G (p.Pro419=) rs369642207 0.00001
NM_000368.5(TSC1):c.1263+4C>T rs1554817077 0.00001
NM_000368.5(TSC1):c.1282G>C (p.Ala428Pro) rs1845728007 0.00001
NM_000368.5(TSC1):c.1283C>T (p.Ala428Val) rs1554816420 0.00001
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val) rs199800297 0.00001
NM_000368.5(TSC1):c.133T>C (p.Leu45=) rs755226092 0.00001
NM_000368.5(TSC1):c.135G>A (p.Leu45=) rs149278759 0.00001
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg) rs587778722 0.00001
NM_000368.5(TSC1):c.1439-10T>A rs1060504852 0.00001
NM_000368.5(TSC1):c.1439-11C>T rs1845662022 0.00001
NM_000368.5(TSC1):c.1481C>T (p.Ala494Val) rs1845656247 0.00001
NM_000368.5(TSC1):c.1489G>C (p.Val497Leu) rs946491568 0.00001
NM_000368.5(TSC1):c.1539A>G (p.Pro513=) rs755055358 0.00001
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp) rs118203342 0.00001
NM_000368.5(TSC1):c.1562C>T (p.Ser521Leu) rs759379027 0.00001
NM_000368.5(TSC1):c.1564G>C (p.Ala522Pro) rs1461138345 0.00001
NM_000368.5(TSC1):c.1580A>G (p.Gln527Arg) rs767708806 0.00001
NM_000368.5(TSC1):c.1590C>T (p.Ser530=) rs762424091 0.00001
NM_000368.5(TSC1):c.1596C>T (p.Asn532=) rs759461471 0.00001
NM_000368.5(TSC1):c.1626G>A (p.Lys542=) rs756935981 0.00001
NM_000368.5(TSC1):c.166C>T (p.Pro56Ser) rs1330089369 0.00001
NM_000368.5(TSC1):c.168G>A (p.Pro56=) rs781483110 0.00001
NM_000368.5(TSC1):c.1779A>G (p.Arg593=) rs964191879 0.00001
NM_000368.5(TSC1):c.177C>T (p.His59=) rs767647768 0.00001
NM_000368.5(TSC1):c.1780G>A (p.Val594Met) rs1845623814 0.00001
NM_000368.5(TSC1):c.1794C>T (p.Ser598=) rs766438395 0.00001
NM_000368.5(TSC1):c.1795G>A (p.Gly599Arg) rs761959210 0.00001
NM_000368.5(TSC1):c.1800G>C (p.Gln600His) rs1254353359 0.00001
NM_000368.5(TSC1):c.1809G>A (p.Pro603=) rs112434645 0.00001
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817 0.00001
NM_000368.5(TSC1):c.1816C>T (p.His606Tyr) rs1343881428 0.00001
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe) rs1554815795 0.00001
NM_000368.5(TSC1):c.181C>T (p.Leu61=) rs752047592 0.00001
NM_000368.5(TSC1):c.185C>G (p.Thr62Ser) rs1846917604 0.00001
NM_000368.5(TSC1):c.1869G>A (p.Lys623=) rs778556382 0.00001
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile) rs754401816 0.00001
NM_000368.5(TSC1):c.1882T>C (p.Leu628=) rs375534013 0.00001
NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala) rs1485955306 0.00001
NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr) rs914628341 0.00001
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg) rs1419720341 0.00001
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg) rs748901883 0.00001
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu) rs118203623 0.00001
NM_000368.5(TSC1):c.2064C>T (p.Ile688=) rs878853963 0.00001
NM_000368.5(TSC1):c.2066G>A (p.Arg689His) rs200827913 0.00001
NM_000368.5(TSC1):c.2085G>A (p.Leu695=) rs767518902 0.00001
NM_000368.5(TSC1):c.2195A>G (p.His732Arg) rs878853964 0.00001
NM_000368.5(TSC1):c.2196T>C (p.His732=) rs776441369 0.00001
NM_000368.5(TSC1):c.2208+23G>A rs118203658 0.00001
NM_000368.5(TSC1):c.2226A>G (p.Leu742=) rs397514878 0.00001
NM_000368.5(TSC1):c.2268A>G (p.Lys756=) rs760004541 0.00001
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His) rs776386313 0.00001
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr) rs760208449 0.00001
NM_000368.5(TSC1):c.2392-14G>A rs1057524717 0.00001
NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr) rs118203690 0.00001
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln) rs761281095 0.00001
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val) rs751128287 0.00001
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg) rs118203699 0.00001
NM_000368.5(TSC1):c.2502+3A>G rs1349115830 0.00001
NM_000368.5(TSC1):c.2503-21T>C rs118203703 0.00001
NM_000368.5(TSC1):c.2520G>A (p.Ser840=) rs547498792 0.00001
NM_000368.5(TSC1):c.2556G>C (p.Leu852=) rs770381040 0.00001
NM_000368.5(TSC1):c.2597T>G (p.Leu866Arg) rs1845328263 0.00001
NM_000368.5(TSC1):c.2604C>T (p.Asn868=) rs147163264 0.00001
NM_000368.5(TSC1):c.2626-5T>C rs1444272064 0.00001
NM_000368.5(TSC1):c.2649C>G (p.Ala883=) rs1279318276 0.00001
NM_000368.5(TSC1):c.2679C>T (p.Ser893=) rs374311456 0.00001
NM_000368.5(TSC1):c.2722C>T (p.Arg908Trp) rs748845915 0.00001
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln) rs780115763 0.00001
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro) rs397514873 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.2776C>G (p.Gln926Glu) rs397514879 0.00001
NM_000368.5(TSC1):c.2781G>A (p.Lys927=) rs118203733 0.00001
NM_000368.5(TSC1):c.2796T>C (p.Asp932=) rs766871150 0.00001
NM_000368.5(TSC1):c.2813+5C>T rs1060503223 0.00001
NM_000368.5(TSC1):c.2814-9A>G rs878853965 0.00001
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr) rs751362258 0.00001
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His) rs767946427 0.00001
NM_000368.5(TSC1):c.289A>G (p.Ile97Val) rs138541569 0.00001
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val) rs397514859 0.00001
NM_000368.5(TSC1):c.2964A>G (p.Ala988=) rs1057520482 0.00001
NM_000368.5(TSC1):c.2975+6A>T rs1060503220 0.00001
NM_000368.5(TSC1):c.2976-18T>C rs397514866 0.00001
NM_000368.5(TSC1):c.2976-2A>G rs1588288463 0.00001
NM_000368.5(TSC1):c.2994C>T (p.Asp998=) rs923543734 0.00001
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg) rs780224196 0.00001
NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp) rs552217429 0.00001
NM_000368.5(TSC1):c.3010A>G (p.Met1004Val) rs371879917 0.00001
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr) rs764738792 0.00001
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser) rs1263094349 0.00001
NM_000368.5(TSC1):c.3029A>G (p.Glu1010Gly) rs1267230279 0.00001
NM_000368.5(TSC1):c.3032C>A (p.Ala1011Glu) rs796053449 0.00001
NM_000368.5(TSC1):c.3046G>A (p.Gly1016Ser) rs1020905743 0.00001
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp) rs1313165721 0.00001
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295 0.00001
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462 0.00001
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile) rs587778726 0.00001
NM_000368.5(TSC1):c.3147G>C (p.Glu1049Asp) rs397514831 0.00001
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu) rs753263747 0.00001
NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln) rs755396992 0.00001
NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg) rs1167362899 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.3278G>A (p.Arg1093Gln) rs550526986 0.00001
NM_000368.5(TSC1):c.3289C>T (p.Arg1097Cys) rs779599439 0.00001
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His) rs118203750 0.00001
NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg) rs876660132 0.00001
NM_000368.5(TSC1):c.3300C>T (p.Ser1100=) rs754282309 0.00001
NM_000368.5(TSC1):c.331C>T (p.Pro111Ser) rs748669519 0.00001
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=) rs118203752 0.00001
NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser) rs118203753 0.00001
NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile) rs775420987 0.00001
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=) rs1157060310 0.00001
NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val) rs772233665 0.00001
NM_000368.5(TSC1):c.3402C>T (p.Asn1134=) rs769266225 0.00001
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082 0.00001
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro) rs764018144 0.00001
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu) rs751126355 0.00001
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=) rs763931959 0.00001
NM_000368.5(TSC1):c.3424C>T (p.Pro1142Ser) rs1060503227 0.00001
NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu) rs767904247 0.00001
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806 0.00001
NM_000368.5(TSC1):c.364A>G (p.Met122Val) rs1846685026 0.00001
NM_000368.5(TSC1):c.376G>A (p.Val126Ile) rs397514843 0.00001
NM_000368.5(TSC1):c.378C>T (p.Val126=) rs373173550 0.00001
NM_000368.5(TSC1):c.38T>C (p.Met13Thr) rs1041071543 0.00001
NM_000368.5(TSC1):c.395G>C (p.Gly132Ala) rs397514784 0.00001
NM_000368.5(TSC1):c.397G>A (p.Val133Ile) rs118203381 0.00001
NM_000368.5(TSC1):c.413C>A (p.Thr138Asn) rs1163879822 0.00001
NM_000368.5(TSC1):c.45C>T (p.Asp15=) rs1457262106 0.00001
NM_000368.5(TSC1):c.514G>A (p.Val172Met) rs952813051 0.00001
NM_000368.5(TSC1):c.519G>A (p.Ala173=) rs768999400 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.598G>A (p.Val200Ile) rs118203410 0.00001
NM_000368.5(TSC1):c.61G>T (p.Val21Leu) rs1392596033 0.00001
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) rs749030456 0.00001
NM_000368.5(TSC1):c.651A>G (p.Glu217=) rs766250769 0.00001
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn) rs984306144 0.00001
NM_000368.5(TSC1):c.72C>T (p.Asp24=) rs376527838 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.772G>A (p.Glu258Lys) rs118203450 0.00001
NM_000368.5(TSC1):c.774G>A (p.Glu258=) rs1554817678 0.00001
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu) rs878853968 0.00001
NM_000368.5(TSC1):c.830T>C (p.Val277Ala) rs200749357 0.00001
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys) rs770653972 0.00001
NM_000368.5(TSC1):c.871G>A (p.Asp291Asn) rs755195460 0.00001
NM_000368.5(TSC1):c.880A>G (p.Thr294Ala) rs1588326742 0.00001
NM_000368.5(TSC1):c.884G>C (p.Ser295Thr) rs1415705359 0.00001
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala) rs796053456 0.00001
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile) rs370916731 0.00001
NM_000368.5(TSC1):c.903G>C (p.Gln301His) rs762200890 0.00001
NM_000368.5(TSC1):c.944C>G (p.Ser315Cys) rs1332978347 0.00001
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00001
NM_000368.5(TSC1):c.95A>G (p.Asn32Ser) rs1222555421 0.00001
NM_000368.5(TSC1):c.960A>G (p.Leu320=) rs770183315 0.00001
NM_000368.5(TSC1):c.966G>A (p.Met322Ile) rs397514807 0.00001
NM_000368.5(TSC1):c.975G>T (p.Gln325His) rs1554817398 0.00001
NM_000548.5(TSC2):c.*4C>T rs368282661 0.00001
NM_000548.5(TSC2):c.*6G>C rs397515008 0.00001
NM_000548.5(TSC2):c.1007A>G (p.Tyr336Cys) rs780378198 0.00001
NM_000548.5(TSC2):c.1024A>G (p.Ile342Val) rs1060500913 0.00001
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) rs397515146 0.00001
NM_000548.5(TSC2):c.1035C>A (p.Leu345=) rs1476429068 0.00001
NM_000548.5(TSC2):c.1046A>G (p.Tyr349Cys) rs1060500916 0.00001
NM_000548.5(TSC2):c.1057C>G (p.Leu353Val) rs902767624 0.00001
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483 0.00001
NM_000548.5(TSC2):c.1116C>T (p.Leu372=) rs587780973 0.00001
NM_000548.5(TSC2):c.1134G>A (p.Pro378=) rs754343186 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.1169C>T (p.Thr390Met) rs1596303442 0.00001
NM_000548.5(TSC2):c.1187A>T (p.Asp396Val) rs1365616275 0.00001
NM_000548.5(TSC2):c.1228C>G (p.Leu410Val) rs528727637 0.00001
NM_000548.5(TSC2):c.123C>T (p.Thr41=) rs1060504100 0.00001
NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys) rs397515187 0.00001
NM_000548.5(TSC2):c.1342C>G (p.Leu448Val) rs1413875392 0.00001
NM_000548.5(TSC2):c.1361+13C>T rs900870796 0.00001
NM_000548.5(TSC2):c.1362-5C>T rs372424945 0.00001
NM_000548.5(TSC2):c.1362-9G>A rs763842281 0.00001
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys) rs397515142 0.00001
NM_000548.5(TSC2):c.1370C>A (p.Ser457Tyr) rs1278503244 0.00001
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077 0.00001
NM_000548.5(TSC2):c.1381G>A (p.Val461Met) rs796053486 0.00001
NM_000548.5(TSC2):c.1384C>T (p.Arg462Cys) rs397515261 0.00001
NM_000548.5(TSC2):c.1389C>G (p.Ile463Met) rs1188230416 0.00001
NM_000548.5(TSC2):c.1393G>A (p.Val465Met) rs758874054 0.00001
NM_000548.5(TSC2):c.13A>G (p.Thr5Ala) rs45517093 0.00001
NM_000548.5(TSC2):c.1401C>T (p.Asp467=) rs1433989426 0.00001
NM_000548.5(TSC2):c.1422C>T (p.Leu474=) rs565646854 0.00001
NM_000548.5(TSC2):c.1440T>C (p.Tyr480=) rs45514794 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.1490C>A (p.Pro497His) rs1484576810 0.00001
NM_000548.5(TSC2):c.1494G>A (p.Glu498=) rs780112077 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.1534C>G (p.Leu512Val) rs772834557 0.00001
NM_000548.5(TSC2):c.1584G>A (p.Leu528=) rs1478821497 0.00001
NM_000548.5(TSC2):c.1588A>G (p.Ile530Val) rs786203470 0.00001
NM_000548.5(TSC2):c.1596G>A (p.Glu532=) rs756466484 0.00001
NM_000548.5(TSC2):c.1600-4A>C rs1164295969 0.00001
NM_000548.5(TSC2):c.1613C>T (p.Ser538Phe) rs201334685 0.00001
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) rs752953762 0.00001
NM_000548.5(TSC2):c.1624C>T (p.Pro542Ser) rs891347695 0.00001
NM_000548.5(TSC2):c.1629G>A (p.Pro543=) rs750309571 0.00001
NM_000548.5(TSC2):c.1652C>T (p.Ala551Val) rs1465307943 0.00001
NM_000548.5(TSC2):c.1653C>T (p.Ala551=) rs202171361 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.1689C>T (p.Ala563=) rs779858018 0.00001
NM_000548.5(TSC2):c.170G>A (p.Arg57His) rs397514949 0.00001
NM_000548.5(TSC2):c.1717-14T>C rs780658386 0.00001
NM_000548.5(TSC2):c.1717-16C>T rs45517191 0.00001
NM_000548.5(TSC2):c.1717-4del rs1362347834 0.00001
NM_000548.5(TSC2):c.1718C>T (p.Thr573Ile) rs773304374 0.00001
NM_000548.5(TSC2):c.1743C>A (p.Ser581Arg) rs775195398 0.00001
NM_000548.5(TSC2):c.1746C>T (p.His582=) rs876658921 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.176G>A (p.Arg59Gln) rs1161261925 0.00001
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=) rs45509094 0.00001
NM_000548.5(TSC2):c.1823G>C (p.Ser608Thr) rs753235037 0.00001
NM_000548.5(TSC2):c.1833G>A (p.Arg611=) rs1270155533 0.00001
NM_000548.5(TSC2):c.1836G>A (p.Leu612=) rs758839898 0.00001
NM_000548.5(TSC2):c.1839+46G>A rs397515180 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.1916G>A (p.Arg639Gln) rs753932484 0.00001
NM_000548.5(TSC2):c.1922G>T (p.Ser641Ile) rs397514964 0.00001
NM_000548.5(TSC2):c.1923C>T (p.Ser641=) rs1555505825 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.1946+5G>A rs766646261 0.00001
NM_000548.5(TSC2):c.1946+60G>C rs45491895 0.00001
NM_000548.5(TSC2):c.1946+6C>T rs754069880 0.00001
NM_000548.5(TSC2):c.1947-9C>T rs747475590 0.00001
NM_000548.5(TSC2):c.1947G>A (p.Met649Ile) rs775845436 0.00001
NM_000548.5(TSC2):c.1969A>C (p.Lys657Gln) rs45488199 0.00001
NM_000548.5(TSC2):c.1979G>A (p.Ser660Asn) rs754504918 0.00001
NM_000548.5(TSC2):c.1984C>T (p.Pro662Ser) rs1309151152 0.00001
NM_000548.5(TSC2):c.1993C>G (p.Pro665Ala) rs1184908674 0.00001
NM_000548.5(TSC2):c.199G>A (p.Val67Ile) rs774506901 0.00001
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu) rs794727221 0.00001
NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser) rs764840082 0.00001
NM_000548.5(TSC2):c.202G>A (p.Ala68Thr) rs767626323 0.00001
NM_000548.5(TSC2):c.2030C>T (p.Pro677Leu) rs376974525 0.00001
NM_000548.5(TSC2):c.2035G>A (p.Val679Met) rs746315218 0.00001
NM_000548.5(TSC2):c.2038C>T (p.Arg680Trp) rs876658578 0.00001
NM_000548.5(TSC2):c.2046G>A (p.Gly682=) rs749536123 0.00001
NM_000548.5(TSC2):c.2047T>C (p.Ser683Pro) rs878854080 0.00001
NM_000548.5(TSC2):c.2050G>A (p.Val684Met) rs779275341 0.00001
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=) rs1186913814 0.00001
NM_000548.5(TSC2):c.2062C>T (p.Leu688=) rs1479736808 0.00001
NM_000548.5(TSC2):c.2074G>A (p.Val692Ile) rs201769220 0.00001
NM_000548.5(TSC2):c.2077C>T (p.Leu693=) rs1167258871 0.00001
NM_000548.5(TSC2):c.2079G>C (p.Leu693=) rs764932531 0.00001
NM_000548.5(TSC2):c.2098-13C>T rs375903453 0.00001
NM_000548.5(TSC2):c.2098-4G>T rs1306044216 0.00001
NM_000548.5(TSC2):c.2098-9T>C rs755416873 0.00001
NM_000548.5(TSC2):c.2147C>T (p.Ser716Phe) rs781153452 0.00001
NM_000548.5(TSC2):c.2166C>T (p.Leu722=) rs1009050362 0.00001
NM_000548.5(TSC2):c.2196G>C (p.Gln732His) rs765646245 0.00001
NM_000548.5(TSC2):c.2221-14G>T rs763473889 0.00001
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile) rs767770242 0.00001
NM_000548.5(TSC2):c.2238A>G (p.Thr746=) rs1060504115 0.00001
NM_000548.5(TSC2):c.2242G>A (p.Glu748Lys) rs1442440961 0.00001
NM_000548.5(TSC2):c.2245C>T (p.Arg749Trp) rs377397369 0.00001
NM_000548.5(TSC2):c.225+4G>A rs201901739 0.00001
NM_000548.5(TSC2):c.2256C>T (p.Gly752=) rs778981034 0.00001
NM_000548.5(TSC2):c.226-4A>G rs886051786 0.00001
NM_000548.5(TSC2):c.2273C>G (p.Ser758Cys) rs45517223 0.00001
NM_000548.5(TSC2):c.2297T>C (p.Val766Ala) rs780682938 0.00001
NM_000548.5(TSC2):c.2298G>C (p.Val766=) rs1157138703 0.00001
NM_000548.5(TSC2):c.2307G>A (p.Val769=) rs1479110270 0.00001
NM_000548.5(TSC2):c.2312C>T (p.Thr771Ile) rs886051790 0.00001
NM_000548.5(TSC2):c.2330A>G (p.His777Arg) rs759528809 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.2355+6A>T rs904030973 0.00001
NM_000548.5(TSC2):c.2355+8G>A rs199558375 0.00001
NM_000548.5(TSC2):c.2356-11G>C rs756976305 0.00001
NM_000548.5(TSC2):c.2364G>A (p.Met788Ile) rs773786955 0.00001
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile) rs779472379 0.00001
NM_000548.5(TSC2):c.2366T>C (p.Val789Ala) rs748669016 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.2416G>A (p.Val806Met) rs796053473 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.2473G>A (p.Val825Ile) rs149860212 0.00001
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492 0.00001
NM_000548.5(TSC2):c.2546-10A>G rs551894111 0.00001
NM_000548.5(TSC2):c.2546-15T>C rs371256839 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.2561C>T (p.Pro854Leu) rs1180511535 0.00001
NM_000548.5(TSC2):c.2562G>A (p.Pro854=) rs779606786 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.2598C>T (p.Ala866=) rs1395372159 0.00001
NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu) rs138527121 0.00001
NM_000548.5(TSC2):c.2625C>T (p.Tyr875=) rs1475326651 0.00001
NM_000548.5(TSC2):c.2631C>T (p.Asn877=) rs45517251 0.00001
NM_000548.5(TSC2):c.2639+15C>T rs397515299 0.00001
NM_000548.5(TSC2):c.2653A>G (p.Ile885Val) rs1555508581 0.00001
NM_000548.5(TSC2):c.2662C>T (p.Leu888=) rs765057258 0.00001
NM_000548.5(TSC2):c.267G>T (p.Leu89Phe) rs1286845026 0.00001
NM_000548.5(TSC2):c.2681C>T (p.Ala894Val) rs777282955 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.2742+3G>A rs373935836 0.00001
NM_000548.5(TSC2):c.2743-7C>G rs566118686 0.00001
NM_000548.5(TSC2):c.2748G>A (p.Leu916=) rs757674443 0.00001
NM_000548.5(TSC2):c.2749C>T (p.Arg917Trp) rs781587135 0.00001
NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser) rs780057014 0.00001
NM_000548.5(TSC2):c.2766G>A (p.Leu922=) rs772858520 0.00001
NM_000548.5(TSC2):c.2768C>G (p.Ser923Cys) rs587778731 0.00001
NM_000548.5(TSC2):c.277C>T (p.Arg93Trp) rs760688660 0.00001
NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn) rs144329595 0.00001
NM_000548.5(TSC2):c.281C>T (p.Pro94Leu) rs200045926 0.00001
NM_000548.5(TSC2):c.2820C>G (p.Leu940=) rs876659493 0.00001
NM_000548.5(TSC2):c.2825A>G (p.Glu942Gly) rs1018951391 0.00001
NM_000548.5(TSC2):c.2837+16G>A rs397515095 0.00001
NM_000548.5(TSC2):c.2838-3T>C rs553942147 0.00001
NM_000548.5(TSC2):c.2838-6C>T rs528706539 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.2886C>T (p.Pro962=) rs140202176 0.00001
NM_000548.5(TSC2):c.2901G>T (p.Lys967Asn) rs1168031047 0.00001
NM_000548.5(TSC2):c.2902_2907del (p.Glu968_Ser969del) rs1460562160 0.00001
NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys) rs780981335 0.00001
NM_000548.5(TSC2):c.2927G>A (p.Arg976Gln) rs779832805 0.00001
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln) rs1478204355 0.00001
NM_000548.5(TSC2):c.2944G>T (p.Val982Leu) rs773864188 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.3007G>A (p.Ala1003Thr) rs1555510234 0.00001
NM_000548.5(TSC2):c.3021C>T (p.Ser1007=) rs201516931 0.00001
NM_000548.5(TSC2):c.3022G>A (p.Val1008Met) rs397514985 0.00001
NM_000548.5(TSC2):c.3030G>A (p.Gln1010=) rs776658284 0.00001
NM_000548.5(TSC2):c.3037G>A (p.Asp1013Asn) rs45517279 0.00001
NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly) rs1060500961 0.00001
NM_000548.5(TSC2):c.3054C>T (p.Leu1018=) rs762570079 0.00001
NM_000548.5(TSC2):c.3057C>T (p.His1019=) rs1060504102 0.00001
NM_000548.5(TSC2):c.3119C>T (p.Ala1040Val) rs2089807202 0.00001
NM_000548.5(TSC2):c.3132-11C>T rs2089819486 0.00001
NM_000548.5(TSC2):c.3158C>T (p.Ala1053Val) rs760214724 0.00001
NM_000548.5(TSC2):c.3172A>G (p.Lys1058Glu) rs2089826724 0.00001
NM_000548.5(TSC2):c.3201C>G (p.Val1067=) rs781532053 0.00001
NM_000548.5(TSC2):c.3209C>T (p.Thr1070Met) rs147989574 0.00001
NM_000548.5(TSC2):c.3216C>T (p.Ser1072=) rs1306234469 0.00001
NM_000548.5(TSC2):c.3233G>A (p.Arg1078Gln) rs368095502 0.00001
NM_000548.5(TSC2):c.327G>A (p.Val109=) rs754348511 0.00001
NM_000548.5(TSC2):c.3284+6T>G rs375837026 0.00001
NM_000548.5(TSC2):c.3285-12T>G rs1233401491 0.00001
NM_000548.5(TSC2):c.3285-31G>A rs397515248 0.00001
NM_000548.5(TSC2):c.3285C>T (p.Ser1095=) rs745446277 0.00001
NM_000548.5(TSC2):c.3286T>C (p.Ser1096Pro) rs755815612 0.00001
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=) rs150126331 0.00001
NM_000548.5(TSC2):c.3301C>T (p.His1101Tyr) rs1060500933 0.00001
NM_000548.5(TSC2):c.3318G>A (p.Lys1106=) rs1060504119 0.00001
NM_000548.5(TSC2):c.3328G>C (p.Ala1110Pro) rs1260370117 0.00001
NM_000548.5(TSC2):c.334C>G (p.Gln112Glu) rs397515308 0.00001
NM_000548.5(TSC2):c.336+61C>T rs397514989 0.00001
NM_000548.5(TSC2):c.337-15G>C rs772983704 0.00001
NM_000548.5(TSC2):c.337-3T>C rs770515822 0.00001
NM_000548.5(TSC2):c.3385C>T (p.Arg1129Cys) rs1028039505 0.00001
NM_000548.5(TSC2):c.3386G>A (p.Arg1129His) rs1412967226 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.3397+15C>T rs202246408 0.00001
NM_000548.5(TSC2):c.339C>A (p.Gly113=) rs368451664 0.00001
NM_000548.5(TSC2):c.3415G>A (p.Val1139Ile) rs759174655 0.00001
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu) rs397515162 0.00001
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=) rs749633483 0.00001
NM_000548.5(TSC2):c.3472C>G (p.Pro1158Ala) rs759350468 0.00001
NM_000548.5(TSC2):c.3487G>T (p.Ala1163Ser) rs560522093 0.00001
NM_000548.5(TSC2):c.3497C>T (p.Pro1166Leu) rs762650392 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.3535G>A (p.Glu1179Lys) rs45483391 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.3555C>T (p.Ala1185=) rs745762286 0.00001
NM_000548.5(TSC2):c.3570G>A (p.Leu1190=) rs1366398727 0.00001
NM_000548.5(TSC2):c.3591C>T (p.Ile1197=) rs765503216 0.00001
NM_000548.5(TSC2):c.3594G>A (p.Leu1198=) rs202114637 0.00001
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000548.5(TSC2):c.3606C>T (p.Pro1202=) rs772580979 0.00001
NM_000548.5(TSC2):c.3611-9C>T rs45517304 0.00001
NM_000548.5(TSC2):c.3620G>A (p.Ser1207Asn) rs397515313 0.00001
NM_000548.5(TSC2):c.362C>G (p.Ala121Gly) rs767755750 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.3687G>A (p.Gln1229=) rs140384709 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.370T>C (p.Phe124Leu) rs547231441 0.00001
NM_000548.5(TSC2):c.3717G>A (p.Glu1239=) rs765060368 0.00001
NM_000548.5(TSC2):c.3718C>T (p.Arg1240Cys) rs137854353 0.00001
NM_000548.5(TSC2):c.3734G>A (p.Arg1245Gln) rs746588726 0.00001
NM_000548.5(TSC2):c.3735G>A (p.Arg1245=) rs756959674 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.3783C>T (p.Ala1261=) rs2090170500 0.00001
NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser) rs1233661099 0.00001
NM_000548.5(TSC2):c.3788C>T (p.Pro1263Leu) rs1057523452 0.00001
NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser) rs45517311 0.00001
NM_000548.5(TSC2):c.3798G>A (p.Leu1266=) rs1187813837 0.00001
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) rs200577441 0.00001
NM_000548.5(TSC2):c.3809A>G (p.Asn1270Ser) rs1304251276 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.3817G>A (p.Ala1273Thr) rs1596404280 0.00001
NM_000548.5(TSC2):c.381C>G (p.Ile127Met) rs2085502591 0.00001
NM_000548.5(TSC2):c.384G>T (p.Lys128Asn) rs748095129 0.00001
NM_000548.5(TSC2):c.3850C>T (p.Gln1284Ter) rs753308966 0.00001
NM_000548.5(TSC2):c.3855A>G (p.Gly1285=) rs891262541 0.00001
NM_000548.5(TSC2):c.3876C>G (p.Ser1292=) rs1173548095 0.00001
NM_000548.5(TSC2):c.3883+5C>T rs45448994 0.00001
NM_000548.5(TSC2):c.3884-8C>G rs397515219 0.00001
NM_000548.5(TSC2):c.3893T>C (p.Val1298Ala) rs758677443 0.00001
NM_000548.5(TSC2):c.3899T>A (p.Met1300Lys) rs1349341137 0.00001
NM_000548.5(TSC2):c.3939G>T (p.Glu1313Asp) rs149340262 0.00001
NM_000548.5(TSC2):c.3941C>T (p.Pro1314Leu) rs1217156011 0.00001
NM_000548.5(TSC2):c.3950T>C (p.Leu1317Ser) rs2090425460 0.00001
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile) rs767495365 0.00001
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val) rs587778736 0.00001
NM_000548.5(TSC2):c.3963G>C (p.Glu1321Asp) rs587778737 0.00001
NM_000548.5(TSC2):c.3996C>T (p.Ala1332=) rs1421997373 0.00001
NM_000548.5(TSC2):c.4006-6T>C rs1060500953 0.00001
NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe) rs200411484 0.00001
NM_000548.5(TSC2):c.4017C>T (p.Val1339=) rs876658217 0.00001
NM_000548.5(TSC2):c.4019C>T (p.Ser1340Phe) rs753656246 0.00001
NM_000548.5(TSC2):c.4037C>T (p.Ser1346Leu) rs45517326 0.00001
NM_000548.5(TSC2):c.4067G>A (p.Gly1356Asp) rs747104864 0.00001
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu) rs1555513920 0.00001
NM_000548.5(TSC2):c.406C>T (p.Leu136Phe) rs1350803240 0.00001
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala) rs878854104 0.00001
NM_000548.5(TSC2):c.4080G>A (p.Glu1360=) rs786203798 0.00001
NM_000548.5(TSC2):c.4082G>A (p.Arg1361Gln) rs762798984 0.00001
NM_000548.5(TSC2):c.4091C>T (p.Ser1364Phe) rs1245757559 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.4201C>T (p.Pro1401Ser) rs778147657 0.00001
NM_000548.5(TSC2):c.4211A>G (p.Lys1404Arg) rs2090506505 0.00001
NM_000548.5(TSC2):c.4250G>A (p.Arg1417Gln) rs1343536158 0.00001
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=) rs1285012780 0.00001
NM_000548.5(TSC2):c.4265C>T (p.Thr1422Ile) rs760230300 0.00001
NM_000548.5(TSC2):c.4275G>A (p.Gly1425=) rs1057522238 0.00001
NM_000548.5(TSC2):c.4282G>A (p.Ala1428Thr) rs764533757 0.00001
NM_000548.5(TSC2):c.4313G>A (p.Arg1438Gln) rs45448791 0.00001
NM_000548.5(TSC2):c.4324G>A (p.Glu1442Lys) rs45469392 0.00001
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala) rs1459518095 0.00001
NM_000548.5(TSC2):c.4385C>G (p.Thr1462Ser) rs373018205 0.00001
NM_000548.5(TSC2):c.4389C>T (p.Ile1463=) rs1555514425 0.00001
NM_000548.5(TSC2):c.4408C>T (p.Arg1470Cys) rs767889030 0.00001
NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser) rs558737770 0.00001
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg) rs1219556604 0.00001
NM_000548.5(TSC2):c.4425A>C (p.Val1475=) rs878854106 0.00001
NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr) rs370114027 0.00001
NM_000548.5(TSC2):c.4454C>T (p.Thr1485Ile) rs772667717 0.00001
NM_000548.5(TSC2):c.4457C>T (p.Ala1486Val) rs773527337 0.00001
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=) rs761248238 0.00001
NM_000548.5(TSC2):c.446A>G (p.Asn149Ser) rs1029118280 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.4534G>A (p.Asp1512Asn) rs774441486 0.00001
NM_000548.5(TSC2):c.4550C>T (p.Pro1517Leu) rs1279603512 0.00001
NM_000548.5(TSC2):c.4555C>T (p.Leu1519=) rs958487832 0.00001
NM_000548.5(TSC2):c.4569+7G>C rs45497598 0.00001
NM_000548.5(TSC2):c.456C>T (p.His152=) rs1596265401 0.00001
NM_000548.5(TSC2):c.4591G>A (p.Val1531Met) rs762797016 0.00001
NM_000548.5(TSC2):c.4603G>A (p.Asp1535Asn) rs45517353 0.00001
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn) rs796872464 0.00001
NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val) rs878854109 0.00001
NM_000548.5(TSC2):c.4635C>T (p.Ile1545=) rs757388437 0.00001
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile) rs745895675 0.00001
NM_000548.5(TSC2):c.4659C>G (p.Gly1553=) rs202212109 0.00001
NM_000548.5(TSC2):c.4663-43G>A rs45517359 0.00001
NM_000548.5(TSC2):c.4677C>T (p.Leu1559=) rs45517361 0.00001
NM_000548.5(TSC2):c.4689C>T (p.Ser1563=) rs45517363 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.4722C>T (p.Phe1574=) rs565576095 0.00001
NM_000548.5(TSC2):c.4732C>T (p.Leu1578=) rs917807471 0.00001
NM_000548.5(TSC2):c.4739G>A (p.Arg1580Gln) rs1371745883 0.00001
NM_000548.5(TSC2):c.4766C>T (p.Pro1589Leu) rs373635516 0.00001
NM_000548.5(TSC2):c.4810G>A (p.Gly1604Ser) rs771289256 0.00001
NM_000548.5(TSC2):c.4849+18C>T rs45517374 0.00001
NM_000548.5(TSC2):c.484G>A (p.Asp162Asn) rs1257721773 0.00001
NM_000548.5(TSC2):c.4850-14C>G rs397515189 0.00001
NM_000548.5(TSC2):c.4850-23C>T rs397515086 0.00001
NM_000548.5(TSC2):c.4864G>A (p.Ala1622Thr) rs769913589 0.00001
NM_000548.5(TSC2):c.486C>T (p.Asp162=) rs45473598 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.4915C>T (p.Arg1639Cys) rs1555438551 0.00001
NM_000548.5(TSC2):c.4982C>T (p.Thr1661Ile) rs776541842 0.00001
NM_000548.5(TSC2):c.4990-13C>T rs1346991628 0.00001
NM_000548.5(TSC2):c.4990-3C>T rs777928103 0.00001
NM_000548.5(TSC2):c.4998C>A (p.Phe1666Leu) rs757221445 0.00001
NM_000548.5(TSC2):c.499T>C (p.Trp167Arg) rs1555498118 0.00001
NM_000548.5(TSC2):c.5021C>T (p.Thr1674Ile) rs1555439727 0.00001
NM_000548.5(TSC2):c.5031C>T (p.Asp1677=) rs878854113 0.00001
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=) rs876658185 0.00001
NM_000548.5(TSC2):c.5038T>G (p.Cys1680Gly) rs1555439802 0.00001
NM_000548.5(TSC2):c.5047G>C (p.Val1683Leu) rs1596455392 0.00001
NM_000548.5(TSC2):c.5061C>T (p.Cys1687=) rs779923426 0.00001
NM_000548.5(TSC2):c.5065A>G (p.Lys1689Glu) rs137854315 0.00001
NM_000548.5(TSC2):c.5069-22C>T rs137854338 0.00001
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr) rs397515110 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.5110T>A (p.Ser1704Thr) rs45474691 0.00001
NM_000548.5(TSC2):c.5118C>T (p.Arg1706=) rs397515079 0.00001
NM_000548.5(TSC2):c.5120A>G (p.Asn1707Ser) rs772439098 0.00001
NM_000548.5(TSC2):c.5133G>A (p.Val1711=) rs1596457919 0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr) rs201206500 0.00001
NM_000548.5(TSC2):c.5161-12C>G rs1555440351 0.00001
NM_000548.5(TSC2):c.5161-6C>T rs1475029652 0.00001
NM_000548.5(TSC2):c.5165C>T (p.Ala1722Val) rs1373235682 0.00001
NM_000548.5(TSC2):c.5175G>A (p.Val1725=) rs886038357 0.00001
NM_000548.5(TSC2):c.5184C>T (p.Ser1728=) rs397514955 0.00001
NM_000548.5(TSC2):c.5196C>T (p.Pro1732=) rs910514279 0.00001
NM_000548.5(TSC2):c.5209C>T (p.Pro1737Ser) rs780112037 0.00001
NM_000548.5(TSC2):c.521C>T (p.Ser174Leu) rs747538587 0.00001
NM_000548.5(TSC2):c.5232C>T (p.Leu1744=) rs772865175 0.00001
NM_000548.5(TSC2):c.5245C>T (p.Arg1749Trp) rs1193817827 0.00001
NM_000548.5(TSC2):c.5254C>G (p.Gln1752Glu) rs45517414 0.00001
NM_000548.5(TSC2):c.5258G>A (p.Arg1753Gln) rs749487441 0.00001
NM_000548.5(TSC2):c.5259+15G>A rs373209496 0.00001
NM_000548.5(TSC2):c.5260-14G>A rs745529697 0.00001
NM_000548.5(TSC2):c.5276C>T (p.Ala1759Val) rs45477298 0.00001
NM_000548.5(TSC2):c.5286C>T (p.Asn1762=) rs757204634 0.00001
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn) rs138831802 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.5320A>G (p.Ser1774Gly) rs368083145 0.00001
NM_000548.5(TSC2):c.5329C>T (p.Pro1777Ser) rs781226141 0.00001
NM_000548.5(TSC2):c.532C>T (p.Leu178=) rs1465941679 0.00001
NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr) rs1245934608 0.00001
NM_000548.5(TSC2):c.5337G>A (p.Gln1779=) rs768237144 0.00001
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg) rs770117004 0.00001
NM_000548.5(TSC2):c.5363A>G (p.Tyr1788Cys) rs397515221 0.00001
NM_000548.5(TSC2):c.5367G>A (p.Glu1789=) rs966695764 0.00001
NM_000548.5(TSC2):c.5386C>T (p.Leu1796Phe) rs45455398 0.00001
NM_000548.5(TSC2):c.5409C>T (p.Phe1803=) rs770270816 0.00001
NM_000548.5(TSC2):c.5419G>A (p.Val1807Met) rs45486402 0.00001
NM_000548.5(TSC2):c.5423G>A (p.Ter1808=) rs762120606 0.00001
NM_000548.5(TSC2):c.558C>T (p.Phe186=) rs775642056 0.00001
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser) rs45505405 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.577G>A (p.Glu193Lys) rs45517112 0.00001
NM_000548.5(TSC2):c.579G>A (p.Glu193=) rs1192379518 0.00001
NM_000548.5(TSC2):c.582C>T (p.Tyr194=) rs750174170 0.00001
NM_000548.5(TSC2):c.599+3A>G rs397514899 0.00001
NM_000548.5(TSC2):c.600-13G>C rs45517116 0.00001
NM_000548.5(TSC2):c.603G>C (p.Met201Ile) rs45506197 0.00001
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp) rs374410454 0.00001
NM_000548.5(TSC2):c.629C>T (p.Ala210Val) rs764925296 0.00001
NM_000548.5(TSC2):c.642C>T (p.Asp214=) rs763726222 0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118 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.691C>T (p.Leu231=) rs1555498820 0.00001
NM_000548.5(TSC2):c.695C>T (p.Pro232Leu) rs760100924 0.00001
NM_000548.5(TSC2):c.696G>A (p.Pro232=) rs539797467 0.00001
NM_000548.5(TSC2):c.704G>A (p.Ser235Asn) rs397514957 0.00001
NM_000548.5(TSC2):c.711G>A (p.Pro237=) rs189380607 0.00001
NM_000548.5(TSC2):c.713T>C (p.Leu238Pro) rs768623382 0.00001
NM_000548.5(TSC2):c.720C>T (p.Ile240=) rs45517123 0.00001
NM_000548.5(TSC2):c.72G>A (p.Pro24=) rs754121475 0.00001
NM_000548.5(TSC2):c.733C>T (p.Arg245Cys) rs375574283 0.00001
NM_000548.5(TSC2):c.739A>G (p.Ile247Val) rs774526017 0.00001
NM_000548.5(TSC2):c.745G>A (p.Val249Ile) rs750649974 0.00001
NM_000548.5(TSC2):c.768C>T (p.Cys256=) rs45517127 0.00001
NM_000548.5(TSC2):c.774+4G>A rs1244859914 0.00001
NM_000548.5(TSC2):c.775-14A>G rs969379684 0.00001
NM_000548.5(TSC2):c.775-5C>T rs181827303 0.00001
NM_000548.5(TSC2):c.782G>A (p.Arg261Gln) rs45502703 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.83C>A (p.Pro28His) rs1057522105 0.00001
NM_000548.5(TSC2):c.849-13G>A rs886051787 0.00001
NM_000548.5(TSC2):c.849-4T>C rs752614339 0.00001
NM_000548.5(TSC2):c.849-8A>G rs765336852 0.00001
NM_000548.5(TSC2):c.857T>C (p.Met286Thr) rs45517136 0.00001
NM_000548.5(TSC2):c.864C>G (p.Asp288Glu) rs780887572 0.00001
NM_000548.5(TSC2):c.867G>A (p.Ala289=) rs375163125 0.00001
NM_000548.5(TSC2):c.871C>T (p.Leu291=) rs45517137 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.900C>T (p.Gly300=) rs1415187475 0.00001
NM_000548.5(TSC2):c.925C>T (p.Leu309Phe) rs1258567486 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.950C>T (p.Thr317Ile) rs1596289105 0.00001
NM_000548.5(TSC2):c.951A>G (p.Thr317=) rs767275578 0.00001
NM_000548.5(TSC2):c.976-10C>T rs765990217 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_000548.5(TSC2):c.997G>T (p.Val333Leu) rs1336741146 0.00001
NC_000009.11:g.(135782758_135785957)_(135787845_135796749)del
NC_000016.10:g.2081596del rs397515150
NC_000016.10:g.2086191AG[1] rs137854118
NM_000368.4(TSC1):c.1030delG rs118203486
NM_000368.4(TSC1):c.2096_2097ins28 (p.?)
NM_000368.4(TSC1):c.2626_2975del
NM_000368.4(TSC1):c.2626_3495del
NM_000368.5(TSC1):c.*1332C>T rs397514841
NM_000368.5(TSC1):c.*1519C>T rs886063608
NM_000368.5(TSC1):c.*1541dup rs748099884
NM_000368.5(TSC1):c.*1612C>A rs886063605
NM_000368.5(TSC1):c.*1969T>C rs886063604
NM_000368.5(TSC1):c.*2022G>T rs568052856
NM_000368.5(TSC1):c.*2213C>A rs539030496
NM_000368.5(TSC1):c.*2228G>A rs528833042
NM_000368.5(TSC1):c.*2230A>G rs397514781
NM_000368.5(TSC1):c.*2364T>A rs886063602
NM_000368.5(TSC1):c.*2439C>A rs886063601
NM_000368.5(TSC1):c.*2475C>A rs886063600
NM_000368.5(TSC1):c.*2615C>A rs886063598
NM_000368.5(TSC1):c.*2632A>G rs886063597
NM_000368.5(TSC1):c.*2641G>T rs397514827
NM_000368.5(TSC1):c.*2644G>T rs886063596
NM_000368.5(TSC1):c.*2658G>T rs886063594
NM_000368.5(TSC1):c.*2679T>C rs886063593
NM_000368.5(TSC1):c.*2691A>T rs886063592
NM_000368.5(TSC1):c.*2893del rs143549363
NM_000368.5(TSC1):c.*2893dup rs143549363
NM_000368.5(TSC1):c.*2897A>G rs886063589
NM_000368.5(TSC1):c.*289del rs11323835
NM_000368.5(TSC1):c.*3047C>A rs886063587
NM_000368.5(TSC1):c.*3239G>T rs886063584
NM_000368.5(TSC1):c.*3240G>T rs886063583
NM_000368.5(TSC1):c.*3248_*3250del rs886063582
NM_000368.5(TSC1):c.*3258G>C rs397514877
NM_000368.5(TSC1):c.*3260G>C rs397514782
NM_000368.5(TSC1):c.*3284C>A rs886063581
NM_000368.5(TSC1):c.*3285G>T rs886063580
NM_000368.5(TSC1):c.*3330G>T rs553475307
NM_000368.5(TSC1):c.*3531G>T rs886063579
NM_000368.5(TSC1):c.*3543C>A rs886063578
NM_000368.5(TSC1):c.*361C>T rs397514844
NM_000368.5(TSC1):c.*3658G>A rs886063577
NM_000368.5(TSC1):c.*3737C>A rs886063576
NM_000368.5(TSC1):c.*3924G>T rs886063575
NM_000368.5(TSC1):c.*3935C>T rs397514787
NM_000368.5(TSC1):c.*3936C>T rs397514853
NM_000368.5(TSC1):c.*3987A>G rs886063574
NM_000368.5(TSC1):c.*4072G>A rs886063573
NM_000368.5(TSC1):c.*4159G>T rs886063571
NM_000368.5(TSC1):c.*4167C>A rs886063570
NM_000368.5(TSC1):c.*4193A>C rs886063569
NM_000368.5(TSC1):c.*4233G>T rs886063568
NM_000368.5(TSC1):c.*4248C>A rs886063567
NM_000368.5(TSC1):c.*4591G>T rs397514821
NM_000368.5(TSC1):c.*4622G>A rs886063564
NM_000368.5(TSC1):c.*4631del rs60000611
NM_000368.5(TSC1):c.*4631dup rs60000611
NM_000368.5(TSC1):c.*548C>A rs886063616
NM_000368.5(TSC1):c.*583C>A rs886063615
NM_000368.5(TSC1):c.*817G>T rs886063614
NM_000368.5(TSC1):c.*859G>T rs886063612
NM_000368.5(TSC1):c.*920C>A rs886063611
NM_000368.5(TSC1):c.-174A>T rs886063627
NM_000368.5(TSC1):c.-80-10T>C rs886063625
NM_000368.5(TSC1):c.-80-51del rs1227429293
NM_000368.5(TSC1):c.-8G>A rs1847042861
NM_000368.5(TSC1):c.1001C>A (p.Ser334Ter) rs118203481
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile) rs1845955010
NM_000368.5(TSC1):c.1005A>G (p.Thr335=) rs753091213
NM_000368.5(TSC1):c.1007_1016del (p.Arg336fs) rs397514849
NM_000368.5(TSC1):c.1012A>G (p.Ile338Val) rs2131974315
NM_000368.5(TSC1):c.101A>T (p.Asn34Ile) rs980870206
NM_000368.5(TSC1):c.1020del (p.Glu340fs) rs118203484
NM_000368.5(TSC1):c.1022CAC[1] (p.Pro342del) rs2131972961
NM_000368.5(TSC1):c.1029+1G>A rs118203485
NM_000368.5(TSC1):c.1029+3_1029+4del
NM_000368.5(TSC1):c.1029+4T>C rs772962741
NM_000368.5(TSC1):c.1030-14T>C rs180810228
NM_000368.5(TSC1):c.1030-14del rs1159170023
NM_000368.5(TSC1):c.1030-1G>A rs118203489
NM_000368.5(TSC1):c.1030-3C>G rs118203488
NM_000368.5(TSC1):c.1030-3C>T rs118203488
NM_000368.5(TSC1):c.1030-5C>G rs1588323218
NM_000368.5(TSC1):c.1030-9A>G rs118203487
NM_000368.5(TSC1):c.1040G>A (p.Trp347Ter) rs118203490
NM_000368.5(TSC1):c.1044C>A (p.Ser348Arg) rs2131964122
NM_000368.5(TSC1):c.1046C>T (p.Pro349Leu) rs1554817268
NM_000368.5(TSC1):c.1048T>C (p.Ser350Pro) rs2131963767
NM_000368.5(TSC1):c.106+47A>C rs373390352
NM_000368.5(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.5(TSC1):c.107-2A>G rs118203332
NM_000368.5(TSC1):c.1072C>A (p.Pro358Thr) rs1845931311
NM_000368.5(TSC1):c.1079C>G (p.Thr360Ser) rs118203493
NM_000368.5(TSC1):c.107A>G (p.Asp36Gly) rs148468036
NM_000368.5(TSC1):c.108C>T (p.Asp36=) rs886063624
NM_000368.5(TSC1):c.1096_1109del (p.Pro366fs) rs118203494
NM_000368.5(TSC1):c.109dup (p.Arg37fs) rs118203333
NM_000368.5(TSC1):c.1101_1114del (p.Asp368fs) rs118203495
NM_000368.5(TSC1):c.1105C>T (p.Leu369=) rs118203496
NM_000368.5(TSC1):c.1110A>C (p.Ser370=) rs371648887
NM_000368.5(TSC1):c.1110dup (p.His371fs) rs118203497
NM_000368.5(TSC1):c.1112_1113dup (p.Pro372fs) rs118203498
NM_000368.5(TSC1):c.1113C>A (p.His371Gln) rs771217333
NM_000368.5(TSC1):c.1118dup (p.Tyr373Ter) rs118203499
NM_000368.5(TSC1):c.1141+1G>T rs397514819
NM_000368.5(TSC1):c.1142-11T>A rs1845908527
NM_000368.5(TSC1):c.1152del (p.Gly385fs) rs118203501
NM_000368.5(TSC1):c.1163T>G (p.Leu388Arg) rs377598226
NM_000368.5(TSC1):c.1166del (p.Gly389fs) rs397514832
NM_000368.5(TSC1):c.1167A>G (p.Gly389=) rs876660723
NM_000368.5(TSC1):c.1182TCC[6] (p.Pro395_Pro397dup) rs1845904104
NM_000368.5(TSC1):c.1187C>T (p.Pro396Leu)
NM_000368.5(TSC1):c.1194C>G (p.Ala398=) rs1060504861
NM_000368.5(TSC1):c.1196_1209del (p.Pro399fs) rs118203502
NM_000368.5(TSC1):c.1203del (p.His402fs) rs118203503
NM_000368.5(TSC1):c.1206T>A (p.His402Gln) rs1845902050
NM_000368.5(TSC1):c.1211A>T (p.Asp404Val) rs1554817130
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.5(TSC1):c.1225A>G (p.Ile409Val) rs2131940667
NM_000368.5(TSC1):c.1225A>T (p.Ile409Phe) rs2131940667
NM_000368.5(TSC1):c.1234C>A (p.Pro412Thr) rs2131939930
NM_000368.5(TSC1):c.1249del (p.Thr417fs) rs397514792
NM_000368.5(TSC1):c.1250del (p.Thr417fs) rs397514778
NM_000368.5(TSC1):c.1256C>A (p.Pro419His) rs878853959
NM_000368.5(TSC1):c.1256C>T (p.Pro419Leu) rs878853959
NM_000368.5(TSC1):c.1257C>A (p.Pro419=) rs369642207
NM_000368.5(TSC1):c.1257del (p.Arg420fs) rs118203506
NM_000368.5(TSC1):c.1257dup (p.Arg420fs) rs118203506
NM_000368.5(TSC1):c.1264-12T>G rs118203508
NM_000368.5(TSC1):c.1264-1G>C rs1554816432
NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs) rs118203509
NM_000368.5(TSC1):c.1279del (p.Ser427fs) rs118203510
NM_000368.5(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.5(TSC1):c.12A>G (p.Gln4=) rs1588363707
NM_000368.5(TSC1):c.1303C>T (p.Gln435Ter) rs118203511
NM_000368.5(TSC1):c.1304A>G (p.Gln435Arg) rs2131880323
NM_000368.5(TSC1):c.1309C>G (p.His437Asp) rs985183299
NM_000368.5(TSC1):c.1309C>T (p.His437Tyr) rs985183299
NM_000368.5(TSC1):c.130A>T (p.Thr44Ser) rs1399266964
NM_000368.5(TSC1):c.130dup (p.Thr44fs) rs118203336
NM_000368.5(TSC1):c.131_132dup (p.Leu45fs) rs118203337
NM_000368.5(TSC1):c.1331C>A (p.Ser444Ter) rs118203512
NM_000368.5(TSC1):c.1331C>G (p.Ser444Ter) rs118203512
NM_000368.5(TSC1):c.1331C>T (p.Ser444Leu)
NM_000368.5(TSC1):c.1332A>C (p.Ser444=) rs773003016
NM_000368.5(TSC1):c.1333+1dup rs118203514
NM_000368.5(TSC1):c.1338del (p.Glu446fs) rs118203517
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala) rs1588313030
NM_000368.5(TSC1):c.133T>G (p.Leu45Val) rs755226092
NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu) rs772868048
NM_000368.5(TSC1):c.1343C>T (p.Pro448Leu) rs397514848
NM_000368.5(TSC1):c.1350C>T (p.Ser450=) rs773780814
NM_000368.5(TSC1):c.135G>T (p.Leu45Phe) rs149278759
NM_000368.5(TSC1):c.1361_1398del (p.Val454fs) rs118203520
NM_000368.5(TSC1):c.1364del (p.Thr455fs) rs118203521
NM_000368.5(TSC1):c.1366_1367del (p.Leu456fs) rs397514798
NM_000368.5(TSC1):c.1366_1367insGA (p.Leu456fs) rs118203522
NM_000368.5(TSC1):c.1368A>C (p.Leu456=) rs397514856
NM_000368.5(TSC1):c.1368A>G (p.Leu456=) rs397514856
NM_000368.5(TSC1):c.1369del (p.Ser457fs) rs118203523
NM_000368.5(TSC1):c.1371T>C (p.Ser457=) rs118203524
NM_000368.5(TSC1):c.1379del (p.Pro460fs) rs118203525
NM_000368.5(TSC1):c.138G>A (p.Val46=) rs2132269285
NM_000368.5(TSC1):c.1411_1412insT (p.Asp471fs) rs118203526
NM_000368.5(TSC1):c.1412del (p.Asp471fs) rs2131863156
NM_000368.5(TSC1):c.1416T>C (p.Ser472=) rs2131862866
NM_000368.5(TSC1):c.1424A>G (p.Lys475Arg) rs2131862407
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr) rs1554816213
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) rs118203527
NM_000368.5(TSC1):c.1431dup (p.Glu478fs) rs397514858
NM_000368.5(TSC1):c.1432_1433dup (p.Glu479fs) rs118203528
NM_000368.5(TSC1):c.1433A>G (p.Glu478Gly) rs118203529
NM_000368.5(TSC1):c.1439-15C>G rs763538221
NM_000368.5(TSC1):c.1439-1G>A rs397514804
NM_000368.5(TSC1):c.1439-20_1439-9del rs1064792996
NM_000368.5(TSC1):c.1439-2A>G rs118203531
NM_000368.5(TSC1):c.1439-2A>T rs118203531
NM_000368.5(TSC1):c.1439-7C>A rs1588311354
NM_000368.5(TSC1):c.1444A>G (p.Ile482Val) rs2131850800
NM_000368.5(TSC1):c.1452del (p.Glu485fs) rs397514797
NM_000368.5(TSC1):c.145del (p.Tyr49fs) rs118203339
NM_000368.5(TSC1):c.1462G>T (p.Glu488Ter) rs118203533
NM_000368.5(TSC1):c.1467CAC[1] (p.Thr491del) rs1554816071
NM_000368.5(TSC1):c.1469C>T (p.Thr490Ile) rs1564482593
NM_000368.5(TSC1):c.146del (p.Tyr49fs) rs397514861
NM_000368.5(TSC1):c.1470del (p.Thr491fs) rs118203534
NM_000368.5(TSC1):c.1481dup (p.Glu495fs) rs118203535
NM_000368.5(TSC1):c.1482A>G (p.Ala494=) rs2131848062
NM_000368.5(TSC1):c.1483G>A (p.Glu495Lys) rs1845656110
NM_000368.5(TSC1):c.1489G>A (p.Val497Met) rs946491568
NM_000368.5(TSC1):c.148del (p.Leu50fs) rs118203340
NM_000368.5(TSC1):c.1490_1491del (p.Val497fs) rs118203536
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.5(TSC1):c.1499G>A (p.Arg500Gln) rs118203538
NM_000368.5(TSC1):c.149T>C (p.Leu50Pro) rs118203341
NM_000368.5(TSC1):c.1501G>T (p.Gly501Ter) rs118203539
NM_000368.5(TSC1):c.1503del (p.Gly502fs) rs397514876
NM_000368.5(TSC1):c.1515_1516dup (p.Pro506fs) rs281875358
NM_000368.5(TSC1):c.1515dup (p.Pro506fs) rs118203540
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1530_1531del (p.Asp510fs) rs118203544
NM_000368.5(TSC1):c.1533T>C (p.Ser511=) rs1588310849
NM_000368.5(TSC1):c.1533del (p.Leu512fs) rs118203545
NM_000368.5(TSC1):c.1535_1536del (p.Leu512fs) rs397514823
NM_000368.5(TSC1):c.1542_1543insG (p.Ser515fs) rs118203546
NM_000368.5(TSC1):c.1549C>A (p.Arg517=) rs1243886871
NM_000368.5(TSC1):c.1559del (p.His520fs) rs118203547
NM_000368.5(TSC1):c.1572C>G (p.Ser524=) rs397514810
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs) rs118203550
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del) rs766376606
NM_000368.5(TSC1):c.158G>C (p.Ser53Thr) rs1588359592
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr) rs765149885
NM_000368.5(TSC1):c.1607T>C (p.Leu536Ser) rs776633158
NM_000368.5(TSC1):c.1615del (p.Ser539fs) rs118203551
NM_000368.5(TSC1):c.1631_1647del (p.Gly544fs) rs118203552
NM_000368.5(TSC1):c.163C>T (p.Gln55Ter) rs118203343
NM_000368.5(TSC1):c.1647G>A (p.Lys549=) rs2131835538
NM_000368.5(TSC1):c.1662del (p.Pro554_Ile555insTer) rs118203554
NM_000368.5(TSC1):c.1664del (p.Ile555fs) rs397514829
NM_000368.5(TSC1):c.1669C>T (p.Leu557=) rs118203555
NM_000368.5(TSC1):c.1669del (p.Leu557fs) rs118203556
NM_000368.5(TSC1):c.1672C>T (p.Pro558Ser) rs1554815946
NM_000368.5(TSC1):c.1676dup (p.Cys559fs) rs118203558
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs) rs118203557
NM_000368.5(TSC1):c.1680_1702dup (p.Gly568fs) rs118203557
NM_000368.5(TSC1):c.1683_1705dup (p.Asp569fs) rs118203560
NM_000368.5(TSC1):c.1687del (p.Asp563fs) rs118203561
NM_000368.5(TSC1):c.1692_1693del (p.Ser565fs) rs118203562
NM_000368.5(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.5(TSC1):c.1698_1704delinsGC (p.Ala567fs) rs1554815914
NM_000368.5(TSC1):c.1703dup (p.Asp569fs) rs397514777
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs) rs118203564
NM_000368.5(TSC1):c.170C>T (p.Ala57Val) rs1846920951
NM_000368.5(TSC1):c.1713A>G (p.Glu571=) rs1588309781
NM_000368.5(TSC1):c.1717C>T (p.Gln573Ter) rs118203565
NM_000368.5(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala) rs1454859974
NM_000368.5(TSC1):c.1724C>T (p.Ser575Phe) rs118203566
NM_000368.5(TSC1):c.1727_1742del (p.Leu576fs) rs118203568
NM_000368.5(TSC1):c.1729G>A (p.Glu577Lys) rs118203570
NM_000368.5(TSC1):c.1729G>T (p.Glu577Ter) rs118203570
NM_000368.5(TSC1):c.1731G>C (p.Glu577Asp) rs118203571
NM_000368.5(TSC1):c.1733C>T (p.Thr578Ile) rs1588309612
NM_000368.5(TSC1):c.1736del (p.Ser579fs) rs118203572
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) rs886063623
NM_000368.5(TSC1):c.1746dup (p.Pro583fs) rs118203573
NM_000368.5(TSC1):c.1749_1750del (p.Pro585fs) rs118203574
NM_000368.5(TSC1):c.1757_1765del (p.Cys586_Pro589delinsSer) rs118203575
NM_000368.5(TSC1):c.1757_1768delinsCA (p.Cys586fs) rs397514857
NM_000368.5(TSC1):c.1759A>T (p.Lys587Ter) rs397514846
NM_000368.5(TSC1):c.1761A>G (p.Lys587=) rs118203577
NM_000368.5(TSC1):c.1766del (p.Pro589fs) rs397514811
NM_000368.5(TSC1):c.1767A>G (p.Pro589=) rs118203578
NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser) rs1429666367
NM_000368.5(TSC1):c.1773_1774dup (p.Thr592fs) rs118203579
NM_000368.5(TSC1):c.1776G>T (p.Thr592=) rs118203580
NM_000368.5(TSC1):c.1777A>T (p.Arg593Ter) rs118203581
NM_000368.5(TSC1):c.1788del (p.Phe596fs) rs118203582
NM_000368.5(TSC1):c.1791_1792dup (p.Ser598fs) rs118203583
NM_000368.5(TSC1):c.1792dup (p.Ser598fs) rs118203583
NM_000368.5(TSC1):c.1803T>A (p.Pro601=) rs2131822473
NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu) rs1588309097
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg) rs751247705
NM_000368.5(TSC1):c.1809G>C (p.Pro603=) rs112434645
NM_000368.5(TSC1):c.181_189del (p.Thr62_Leu64del) rs118203344
NM_000368.5(TSC1):c.1823_1824del (p.Leu607_Phe608insTer) rs118203585
NM_000368.5(TSC1):c.1823_1824dup (p.Glu609fs) rs118203585
NM_000368.5(TSC1):c.1825G>T (p.Glu609Ter) rs118203587
NM_000368.5(TSC1):c.182T>C (p.Leu61Pro) rs118203345
NM_000368.5(TSC1):c.182T>G (p.Leu61Arg) rs118203345
NM_000368.5(TSC1):c.1830G>T (p.Val610=) rs2131820356
NM_000368.5(TSC1):c.1839A>G (p.Pro613=) rs118203588
NM_000368.5(TSC1):c.1841del (p.Lys614fs) rs118203589
NM_000368.5(TSC1):c.1844C>T (p.Thr615Ile) rs1588308884
NM_000368.5(TSC1):c.1849C>G (p.His617Asp) rs397514854
NM_000368.5(TSC1):c.1851T>C (p.His617=) rs2131818787
NM_000368.5(TSC1):c.1851del (p.His618fs) rs118203590
NM_000368.5(TSC1):c.1857del (p.Phe619fs) rs118203591
NM_000368.5(TSC1):c.185C>T (p.Thr62Ile) rs1846917604
NM_000368.5(TSC1):c.1874A>G (p.Glu625Gly) rs886038287
NM_000368.5(TSC1):c.1876G>T (p.Glu626Ter) rs397514815
NM_000368.5(TSC1):c.1879C>T (p.Leu627=) rs1171110012
NM_000368.5(TSC1):c.1883T>A (p.Leu628Ter) rs118203592
NM_000368.5(TSC1):c.1883T>G (p.Leu628Ter) rs118203592
NM_000368.5(TSC1):c.1884_1905del (p.Lys629fs) rs397514796
NM_000368.5(TSC1):c.1886del (p.Lys629fs) rs118203594
NM_000368.5(TSC1):c.1888A>G (p.Lys630Glu) rs1158059433
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs) rs118203595
NM_000368.5(TSC1):c.1890dup (p.Ala631fs) rs118203596
NM_000368.5(TSC1):c.1904C>T (p.Thr635Ile)
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs) rs118203597
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs) rs118203599
NM_000368.5(TSC1):c.1911del (p.Asp638fs) rs397514801
NM_000368.5(TSC1):c.1913A>T (p.Asp638Val)
NM_000368.5(TSC1):c.191_199del (p.Leu64_Pro67delinsSer) rs118203346
NM_000368.5(TSC1):c.1922C>T (p.Pro641Leu) rs397514863
NM_000368.5(TSC1):c.1925C>T (p.Ser642Phe) rs1845610761
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr) rs1588308288
NM_000368.5(TSC1):c.1942del (p.Val648fs) rs118203600
NM_000368.5(TSC1):c.1948G>A (p.Asp650Asn) rs2131810664
NM_000368.5(TSC1):c.1955_1956del (p.Leu652fs) rs118203601
NM_000368.5(TSC1):c.1959dup (p.Gln654fs) rs118203603
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter) rs118203606
NM_000368.5(TSC1):c.1964del (p.Gln655fs) rs397514793
NM_000368.5(TSC1):c.1967G>C (p.Gly656Ala) rs1554815701
NM_000368.5(TSC1):c.1968A>C (p.Gly656=) rs118203607
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu) rs118203608
NM_000368.5(TSC1):c.1997+17C>G rs397514860
NM_000368.5(TSC1):c.1997+1G>A rs118203610
NM_000368.5(TSC1):c.1997+1G>C rs118203610
NM_000368.5(TSC1):c.1997+2T>C rs2131806725
NM_000368.5(TSC1):c.1997+6_1997+7del rs2538697117
NM_000368.5(TSC1):c.1998-1G>A rs118203614
NM_000368.5(TSC1):c.1998-1G>C rs118203614
NM_000368.5(TSC1):c.1998-2A>G rs1057518217
NM_000368.5(TSC1):c.1998-54C>T rs118203613
NM_000368.5(TSC1):c.1998-7T>G rs1845549017
NM_000368.5(TSC1):c.1998-8C>G rs1845549145
NM_000368.5(TSC1):c.1998-9T>C rs773667263
NM_000368.5(TSC1):c.1998G>A (p.Lys666=) rs118203616
NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter) rs118203617
NM_000368.5(TSC1):c.2008C>A (p.Pro670Thr) rs2131788403
NM_000368.5(TSC1):c.200C>T (p.Pro67Leu)
NM_000368.5(TSC1):c.2020G>A (p.Val674Ile) rs1845544758
NM_000368.5(TSC1):c.2022C>T (p.Val674=) rs118203618
NM_000368.5(TSC1):c.2022del (p.Asp675fs) rs118203619
NM_000368.5(TSC1):c.2023G>A (p.Asp675Asn) rs768189353
NM_000368.5(TSC1):c.2023G>T (p.Asp675Tyr) rs768189353
NM_000368.5(TSC1):c.2023del (p.Asp675fs) rs118203620
NM_000368.5(TSC1):c.2028G>A (p.Trp676Ter) rs118203621
NM_000368.5(TSC1):c.2030_2040del (p.Thr677fs) rs118203622
NM_000368.5(TSC1):c.2031C>A (p.Thr677=) rs1060504855
NM_000368.5(TSC1):c.2033_2041+14del rs397514817
NM_000368.5(TSC1):c.2041+1G>A rs397514842
NM_000368.5(TSC1):c.2041+2T>A rs118203625
NM_000368.5(TSC1):c.2041+2T>C rs118203625
NM_000368.5(TSC1):c.2041+5del rs1564479424
NM_000368.5(TSC1):c.2041G>A (p.Gly681Ser) rs118203624
NM_000368.5(TSC1):c.2042-2A>G rs118203628
NM_000368.5(TSC1):c.2042-5A>G rs118203627
NM_000368.5(TSC1):c.2045C>G (p.Ser682Cys) rs919177189
NM_000368.5(TSC1):c.2046_2047del (p.Pro683fs) rs397514869
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del) rs397514799
NM_000368.5(TSC1):c.2054C>A (p.Ser685Ter) rs118203629
NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly) rs786201465
NM_000368.5(TSC1):c.2069_2074delinsACACTT (p.Thr690_Arg692delinsAsnThrTer) rs118203630
NM_000368.5(TSC1):c.206A>G (p.Asp69Gly) rs1846914861
NM_000368.5(TSC1):c.2070_2097dup (p.Asn700fs) rs1554815323
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2079C>T (p.Asp693=) rs2131771893
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter) rs397514789
NM_000368.5(TSC1):c.2082del (p.Gln694fs) rs118203632
NM_000368.5(TSC1):c.2090del (p.Leu697fs) rs118203633
NM_000368.5(TSC1):c.2093T>G (p.Leu698Arg) rs397514802
NM_000368.5(TSC1):c.2094del (p.His699fs) rs118203634
NM_000368.5(TSC1):c.2097dup (p.Asn700fs) rs118203635
NM_000368.5(TSC1):c.210+1G>A rs118203348
NM_000368.5(TSC1):c.2101_2102del (p.Gln701fs) rs118203637
NM_000368.5(TSC1):c.2101_2107del (p.Gln701fs) rs397514791
NM_000368.5(TSC1):c.2101del (p.Gln701fs) rs118203636
NM_000368.5(TSC1):c.2103G>T (p.Gln701His) rs118203639
NM_000368.5(TSC1):c.2103_2106del (p.Gln701fs) rs118203638
NM_000368.5(TSC1):c.2103_2106dup (p.Leu703fs) rs118203638
NM_000368.5(TSC1):c.2103_2109dup (p.Tyr704fs) rs118203641
NM_000368.5(TSC1):c.2106_2107insGTTTA (p.Leu703fs) rs118203642
NM_000368.5(TSC1):c.2106delinsGT (p.Leu703fs) rs397514838
NM_000368.5(TSC1):c.2109_2110del (p.Leu703_Tyr704insTer) rs118203643
NM_000368.5(TSC1):c.211-11dup rs397514775
NM_000368.5(TSC1):c.211-16T>C rs118203351
NM_000368.5(TSC1):c.211-1G>A rs118203353
NM_000368.5(TSC1):c.211-1G>T rs118203353
NM_000368.5(TSC1):c.211-2A>C rs118203352
NM_000368.5(TSC1):c.2110dup (p.Tyr704fs) rs118203644
NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys) rs752054698
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer) rs118203645
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter) rs118203646
NM_000368.5(TSC1):c.2119T>C (p.Phe707Leu) rs1845501093
NM_000368.5(TSC1):c.2128C>T (p.Gln710Ter) rs397514874
NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter) rs118203647
NM_000368.5(TSC1):c.2135_2139del (p.His712fs) rs118203648
NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp) rs1564478519
NM_000368.5(TSC1):c.2145del (p.Asn716fs) rs118203650
NM_000368.5(TSC1):c.2146_2153dup (p.Leu719fs) rs397514803
NM_000368.5(TSC1):c.214C>T (p.Leu72Phe) rs759183842
NM_000368.5(TSC1):c.2151dup (p.Arg718fs) rs118203651
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln) rs1060503207
NM_000368.5(TSC1):c.215T>C (p.Leu72Pro) rs118203354
NM_000368.5(TSC1):c.2161C>G (p.Arg721Gly) rs763357144
NM_000368.5(TSC1):c.2162G>A (p.Arg721His) rs769566267
NM_000368.5(TSC1):c.2162G>C (p.Arg721Pro) rs769566267
NM_000368.5(TSC1):c.2164A>T (p.Lys722Ter) rs397514772
NM_000368.5(TSC1):c.2166G>T (p.Lys722Asn) rs2538648261
NM_000368.5(TSC1):c.2169del (p.Ile724fs) rs118203652
NM_000368.5(TSC1):c.2173_2176del (p.Lys725fs) rs118203653
NM_000368.5(TSC1):c.2175dup (p.Ala726fs) rs118203654
NM_000368.5(TSC1):c.2177C>A (p.Ala726Glu) rs118203655
NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter) rs397514820
NM_000368.5(TSC1):c.2191del (p.Glu731fs) rs118203656
NM_000368.5(TSC1):c.21C>G (p.Val7=) rs145987906
NM_000368.5(TSC1):c.21C>T (p.Val7=) rs145987906
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.2209-35A>G rs118203659
NM_000368.5(TSC1):c.2209-9C>T rs118203660
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter) rs118203661
NM_000368.5(TSC1):c.2233A>G (p.Lys745Glu) rs2131740608
NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr) rs786203007
NM_000368.5(TSC1):c.2240T>C (p.Ile747Thr) rs1392095786
NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter) rs118203662
NM_000368.5(TSC1):c.2250G>A (p.Trp750Ter) rs118203663
NM_000368.5(TSC1):c.2251A>C (p.Lys751Gln) rs1845453569
NM_000368.5(TSC1):c.2259T>C (p.Ser753=)
NM_000368.5(TSC1):c.2260C>T (p.Leu754=) rs118203664
NM_000368.5(TSC1):c.2268_2271del (p.Lys756fs) rs118203665
NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys) rs397514783
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.5(TSC1):c.227T>A (p.Ile76Asn) rs118203355
NM_000368.5(TSC1):c.2280_2295del (p.Tyr761fs) rs118203666
NM_000368.5(TSC1):c.2281_2284dup (p.Asn762fs) rs118203667
NM_000368.5(TSC1):c.2282A>G (p.Tyr761Cys) rs1554815018
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter) rs118203668
NM_000368.5(TSC1):c.2283C>G (p.Tyr761Ter) rs118203668
NM_000368.5(TSC1):c.2286T>C (p.Asn762=) rs1554815010
NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter) rs118203671
NM_000368.5(TSC1):c.2291del (p.Leu764fs) rs118203672
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter) rs118203673
NM_000368.5(TSC1):c.2298_2320del (p.Gln767fs) rs118203674
NM_000368.5(TSC1):c.2299C>T (p.Gln767Ter) rs118203675
NM_000368.5(TSC1):c.2317del (p.Thr773fs) rs118203676
NM_000368.5(TSC1):c.2319del (p.Lys774fs) rs118203677
NM_000368.5(TSC1):c.2324T>A (p.Leu775His)
NM_000368.5(TSC1):c.2326C>A (p.His776Asn) rs2131732766
NM_000368.5(TSC1):c.2328_2329del (p.His776fs) rs118203678
NM_000368.5(TSC1):c.2329del (p.Ser777fs) rs397514780
NM_000368.5(TSC1):c.232G>A (p.Glu78Lys)
NM_000368.5(TSC1):c.2332C>T (p.Gln778Ter) rs118203679
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter) rs118203680
NM_000368.5(TSC1):c.2342_2343insAA (p.Leu782fs) rs397514855
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter) rs118203681
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.2357del (p.Arg786fs) rs118203683
NM_000368.5(TSC1):c.2360_2364del (p.Glu787fs) rs118203684
NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter) rs118203685
NM_000368.5(TSC1):c.2364del (p.Glu788fs) rs118203686
NM_000368.5(TSC1):c.2370C>T (p.Tyr790=) rs1845442273
NM_000368.5(TSC1):c.2375A>T (p.Gln792Leu)
NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys) rs781371665
NM_000368.5(TSC1):c.2387dup (p.Leu796fs) rs397514786
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.5(TSC1):c.2391G>T (p.Gln797His) rs1827865790
NM_000368.5(TSC1):c.2392-1G>A rs397514822
NM_000368.5(TSC1):c.239T>C (p.Val80Ala) rs2132237603
NM_000368.5(TSC1):c.2401G>T (p.Glu801Ter) rs118203687
NM_000368.5(TSC1):c.2402A>G (p.Glu801Gly) rs1295965297
NM_000368.5(TSC1):c.2407del (p.Cys803fs) rs118203688
NM_000368.5(TSC1):c.2412_2425del (p.Asn805fs) rs118203689
NM_000368.5(TSC1):c.2421T>A (p.Ile807=) rs754248661
NM_000368.5(TSC1):c.2421dup (p.Ala808fs) rs118203691
NM_000368.5(TSC1):c.2431C>G (p.Arg811Gly) rs397514814
NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp) rs397514814
NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter) rs1588299158
NM_000368.5(TSC1):c.244A>T (p.Lys82Ter) rs2132237228
NM_000368.5(TSC1):c.2456_2459del (p.Asn819fs) rs118203693
NM_000368.5(TSC1):c.2458_2460del (p.Lys820del) rs2538573980
NM_000368.5(TSC1):c.2465_2466del (p.Cys822fs) rs118203694
NM_000368.5(TSC1):c.2468_2469insG (p.His823fs) rs118203696
NM_000368.5(TSC1):c.2468del (p.His823fs) rs118203695
NM_000368.5(TSC1):c.2470_2471del (p.His823_Thr824insTer) rs118203697
NM_000368.5(TSC1):c.2471_2472del (p.Thr824fs) rs118203698
NM_000368.5(TSC1):c.2478G>A (p.Leu826=) rs149719514
NM_000368.5(TSC1):c.2485A>T (p.Ser829Cys) rs118203699
NM_000368.5(TSC1):c.2497C>T (p.Gln833Ter) rs118203700
NM_000368.5(TSC1):c.2501dup (p.Leu835fs) rs118203701
NM_000368.5(TSC1):c.2503-11T>A rs201568350
NM_000368.5(TSC1):c.2503-11T>G rs201568350
NM_000368.5(TSC1):c.2503-12T>C rs765263617
NM_000368.5(TSC1):c.2503-1G>T rs118203705
NM_000368.5(TSC1):c.2503-2A>G rs118203704
NM_000368.5(TSC1):c.2503-35T>C rs118203702
NM_000368.5(TSC1):c.2503-3T>C rs1355806067
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter) rs118203706
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.5(TSC1):c.250G>T (p.Ala84Ser) rs118203357
NM_000368.5(TSC1):c.2510dup (p.Asn837fs) rs118203709
NM_000368.5(TSC1):c.2514T>G (p.Ser838Arg) rs786203259
NM_000368.5(TSC1):c.2521dup (p.Val841fs) rs397514850
NM_000368.5(TSC1):c.2523C>T (p.Val841=) rs397514825
NM_000368.5(TSC1):c.2528_2534del (p.Gln843fs) rs118203710
NM_000368.5(TSC1):c.252C>T (p.Ala84=) rs2132236617
NM_000368.5(TSC1):c.252dup (p.Thr85fs) rs118203358
NM_000368.5(TSC1):c.2555T>C (p.Leu852Pro) rs2538550696
NM_000368.5(TSC1):c.2559_2562del (p.Leu853fs) rs118203711
NM_000368.5(TSC1):c.2569del (p.Glu857fs) rs118203712
NM_000368.5(TSC1):c.2569dup (p.Glu857fs) rs118203712
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys) rs1463772907
NM_000368.5(TSC1):c.2582del (p.Leu861fs) rs397514865
NM_000368.5(TSC1):c.2595del (p.Gln865fs) rs118203714
NM_000368.5(TSC1):c.2602A>G (p.Asn868Asp)
NM_000368.5(TSC1):c.260T>G (p.Leu87Ter) rs397514776
NM_000368.5(TSC1):c.260_261insGA (p.Ser88fs) rs118203359
NM_000368.5(TSC1):c.2614G>A (p.Asp872Asn) rs746607455
NM_000368.5(TSC1):c.2622A>G (p.Thr874=) rs2131684460
NM_000368.5(TSC1):c.2625+367A>G rs1564474542
NM_000368.5(TSC1):c.2626-1G>A rs397514847
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-2A>C rs118203717
NM_000368.5(TSC1):c.2626-2A>G rs118203717
NM_000368.5(TSC1):c.2626-2A>T rs118203717
NM_000368.5(TSC1):c.2626-2del rs1845156018
NM_000368.5(TSC1):c.2626-3_2626-2insTA rs760737807
NM_000368.5(TSC1):c.2626-3_2626-2insTG rs760737807
NM_000368.5(TSC1):c.2626-4T[17_21]
NM_000368.5(TSC1):c.2626-4_2626-3dup rs1554813638
NM_000368.5(TSC1):c.2626-4_2626-3insTTTTTTTTTTTTTTTTTTTTTAATTAATTATTCTAGTTTT rs5901000
NM_000368.5(TSC1):c.2626-4del rs5901000
NM_000368.5(TSC1):c.2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-6_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-6_2626-5insTC rs1256355250
NM_000368.5(TSC1):c.2626-7_2626-4del rs5901000
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile) rs1554813610
NM_000368.5(TSC1):c.2650dup (p.Tyr884fs) rs118203722
NM_000368.5(TSC1):c.2652T>A (p.Tyr884Ter) rs397514805
NM_000368.5(TSC1):c.2657_2658del (p.Lys886fs) rs397514788
NM_000368.5(TSC1):c.2658del (p.Glu887fs) rs397514788
NM_000368.5(TSC1):c.2665G>T (p.Glu889Ter) rs775589156
NM_000368.5(TSC1):c.2671_2672dup (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2672del (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2672dup (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs) rs118203726
NM_000368.5(TSC1):c.2681A>G (p.His894Arg) rs1588290830
NM_000368.5(TSC1):c.2682T>C (p.His894=) rs771479673
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
NM_000368.5(TSC1):c.2694del (p.Thr899fs) rs118203729
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter) rs397514871
NM_000368.5(TSC1):c.2699del (p.Gln900fs) rs118203731
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.5(TSC1):c.271_272del (p.Ser91fs) rs118203360
NM_000368.5(TSC1):c.2722C>A (p.Arg908=) rs748845915
NM_000368.5(TSC1):c.272C>A (p.Ser91Ter) rs118203361
NM_000368.5(TSC1):c.2755A>C (p.Lys919Gln) rs1319954878
NM_000368.5(TSC1):c.2760C>T (p.Asp920=) rs1226490074
NM_000368.5(TSC1):c.276_277insAA (p.Leu93fs) rs118203362
NM_000368.5(TSC1):c.276dup (p.Leu93fs) rs118203362
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter) rs397514879
NM_000368.5(TSC1):c.2781_2784del (p.Lys927fs) rs397514845
NM_000368.5(TSC1):c.2786_2787del (p.Tyr929fs) rs118203734
NM_000368.5(TSC1):c.278T>G (p.Leu93Arg) rs118203363
NM_000368.5(TSC1):c.2796T>G (p.Asp932Glu) rs766871150
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter) rs118203735
NM_000368.5(TSC1):c.2813+3_2813+21del rs118203737
NM_000368.5(TSC1):c.2813G>A (p.Arg938Lys) rs1249697208
NM_000368.5(TSC1):c.2813_2813+4del rs118203736
NM_000368.5(TSC1):c.2815G>A (p.Gly939Arg) rs1564471685
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter) rs2131628564
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser) rs751362258
NM_000368.5(TSC1):c.2830_2831insGCCTG (p.Ala944fs) rs118203739
NM_000368.5(TSC1):c.2831C>T (p.Ala944Val) rs2131628148
NM_000368.5(TSC1):c.2851C>A (p.Gln951Lys) rs2538481248
NM_000368.5(TSC1):c.2878T>C (p.Leu960=) rs766383986
NM_000368.5(TSC1):c.289A>T (p.Ile97Leu) rs138541569
NM_000368.5(TSC1):c.2904G>A (p.Arg968=) rs1554813280
NM_000368.5(TSC1):c.2905T>C (p.Leu969=) rs768350176
NM_000368.5(TSC1):c.2933T>A (p.Leu978His) rs770834438
NM_000368.5(TSC1):c.2935G>A (p.Glu979Lys) rs1845118974
NM_000368.5(TSC1):c.2949_2957del (p.985AAE[1]) rs767902029
NM_000368.5(TSC1):c.2976-15C>T rs1195411560
NM_000368.5(TSC1):c.2977C>A (p.Leu993Ile) rs1177810382
NM_000368.5(TSC1):c.2977C>T (p.Leu993Phe) rs1177810382
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly) rs1554813029
NM_000368.5(TSC1):c.2987G>C (p.Cys996Ser) rs771810884
NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe) rs1554812991
NM_000368.5(TSC1):c.3010A>T (p.Met1004Leu) rs371879917
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile) rs751970451
NM_000368.5(TSC1):c.3018G>A (p.Gly1006=) rs910475358
NM_000368.5(TSC1):c.3018G>T (p.Gly1006=) rs910475358
NM_000368.5(TSC1):c.3024T>C (p.Asn1008=) rs142954164
NM_000368.5(TSC1):c.303A>G (p.Pro101=) rs2132233153
NM_000368.5(TSC1):c.3044A>G (p.Asn1015Ser) rs2131613702
NM_000368.5(TSC1):c.3050A>G (p.Glu1017Gly) rs922638686
NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu) rs1317622700
NM_000368.5(TSC1):c.3058A>G (p.Thr1020Ala) rs1588287982
NM_000368.5(TSC1):c.3059C>G (p.Thr1020Ser)
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=) rs1380396209
NM_000368.5(TSC1):c.3062C>G (p.Pro1021Arg) rs1845082733
NM_000368.5(TSC1):c.3063del (p.Arg1022fs) rs2131612319
NM_000368.5(TSC1):c.3067C>T (p.Pro1023Ser) rs138445573
NM_000368.5(TSC1):c.3069C>T (p.Pro1023=) rs1588287899
NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn) rs1845081620
NM_000368.5(TSC1):c.3088A>G (p.Ser1030Gly) rs1588287783
NM_000368.5(TSC1):c.308G>A (p.Trp103Ter) rs118203364
NM_000368.5(TSC1):c.309G>A (p.Trp103Ter) rs118203365
NM_000368.5(TSC1):c.3106G>A (p.Gly1036Arg) rs1588287655
NM_000368.5(TSC1):c.3112AGC[5] (p.Ser1043del) rs2234980
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3112AGC[8] (p.Ser1042_Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3112AGC[9] (p.Ser1041_Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3113G>A (p.Ser1038Asn) rs1060503196
NM_000368.5(TSC1):c.3114C>T (p.Ser1038=) rs1588287598
NM_000368.5(TSC1):c.3127A>G (p.Ser1043Gly) rs1554812848
NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu) rs1203864892
NM_000368.5(TSC1):c.3146A>G (p.Glu1049Gly) rs2131606041
NM_000368.5(TSC1):c.3155C>T (p.Pro1052Leu) rs2131605173
NM_000368.5(TSC1):c.3157C>T (p.His1053Tyr)
NM_000368.5(TSC1):c.3158A>C (p.His1053Pro) rs1309531545
NM_000368.5(TSC1):c.3193A>G (p.Thr1065Ala) rs2131602510
NM_000368.5(TSC1):c.3205G>A (p.Glu1069Lys) rs1845061706
NM_000368.5(TSC1):c.3209C>G (p.Ala1070Gly) rs1060503200
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val) rs1060503200
NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val) rs779369226
NM_000368.5(TSC1):c.3216C>T (p.Ala1072=) rs118203747
NM_000368.5(TSC1):c.3217A>G (p.Ser1073Gly) rs1845059319
NM_000368.5(TSC1):c.3223C>G (p.Pro1075Ala)
NM_000368.5(TSC1):c.3227C>G (p.Thr1076Ser) rs2131600316
NM_000368.5(TSC1):c.3231T>C (p.Thr1077=) rs118203748
NM_000368.5(TSC1):c.3242T>A (p.Leu1081His) rs2131599348
NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala) rs1060503191
NM_000368.5(TSC1):c.324_325del (p.Gln109fs) rs397514795
NM_000368.5(TSC1):c.3257G>A (p.Ser1086Asn) rs774286125
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg) rs1845053380
NM_000368.5(TSC1):c.325C>T (p.Gln109Ter) rs397514774
NM_000368.5(TSC1):c.3264G>C (p.Leu1088=) rs2131598004
NM_000368.5(TSC1):c.3266del (p.Gly1089fs) rs1845052735
NM_000368.5(TSC1):c.3277C>T (p.Arg1093Ter) rs1431256375
NM_000368.5(TSC1):c.3301G>A (p.Glu1101Lys) rs1554812661
NM_000368.5(TSC1):c.3315T>C (p.Asp1105=) rs2131594829
NM_000368.5(TSC1):c.3318G>A (p.Glu1106=) rs2131594665
NM_000368.5(TSC1):c.3322G>T (p.Gly1108Cys) rs118203753
NM_000368.5(TSC1):c.334_335dup (p.Leu113fs) rs118203366
NM_000368.5(TSC1):c.3353A>G (p.Lys1118Arg) rs2131592698
NM_000368.5(TSC1):c.3361C>T (p.Leu1121=) rs769478982
NM_000368.5(TSC1):c.338del (p.Leu113fs) rs118203367
NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser) rs1249897804
NM_000368.5(TSC1):c.3399G>T (p.Leu1133=) rs2131589934
NM_000368.5(TSC1):c.33T>C (p.Leu11=) rs1329395556
NM_000368.5(TSC1):c.3412C>T (p.Pro1138Ser) rs2131589157
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.3438C>G (p.Asp1146Glu) rs1845026177
NM_000368.5(TSC1):c.3443T>C (p.Val1148Ala) rs2131587093
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp) rs796053451
NM_000368.5(TSC1):c.3475A>C (p.Thr1159Pro) rs1216169846
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe) rs755799702
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro) rs118203368
NM_000368.5(TSC1):c.356G>T (p.Cys119Phe) rs1554820265
NM_000368.5(TSC1):c.362A>G (p.Lys121Arg) rs118203369
NM_000368.5(TSC1):c.363+1G>A rs118203372
NM_000368.5(TSC1):c.363+1G>T rs118203372
NM_000368.5(TSC1):c.363+1dup rs118203371
NM_000368.5(TSC1):c.363+47T>C rs118203375
NM_000368.5(TSC1):c.363+5G>A rs118203374
NM_000368.5(TSC1):c.363+668G>A
NM_000368.5(TSC1):c.363G>A (p.Lys121=) rs118203370
NM_000368.5(TSC1):c.364-15C>T rs1846686000
NM_000368.5(TSC1):c.364-1G>C rs118203376
NM_000368.5(TSC1):c.372dup (p.Asp125Ter) rs118203377
NM_000368.5(TSC1):c.381_383del (p.Val128del) rs118203378
NM_000368.5(TSC1):c.385dup (p.Leu129fs) rs397514852
NM_000368.5(TSC1):c.395G>A (p.Gly132Asp) rs397514784
NM_000368.5(TSC1):c.395_406delinsCA (p.Gly132fs) rs118203380
NM_000368.5(TSC1):c.396C>T (p.Gly132=) rs368922726
NM_000368.5(TSC1):c.397G>T (p.Val133Phe) rs118203381
NM_000368.5(TSC1):c.39G>A (p.Met13Ile) rs2132296041
NM_000368.5(TSC1):c.3G>A (p.Met1Ile) rs2539147331
NM_000368.5(TSC1):c.403G>T (p.Val135Leu) rs1588350708
NM_000368.5(TSC1):c.415A>G (p.Met139Val) rs780442112
NM_000368.5(TSC1):c.425T>C (p.Met142Thr) rs886042190
NM_000368.5(TSC1):c.433C>T (p.Gln145Ter) rs118203382
NM_000368.5(TSC1):c.433_434del (p.Gln145fs) rs118203383
NM_000368.5(TSC1):c.43G>A (p.Asp15Asn) rs1554821020
NM_000368.5(TSC1):c.444A>G (p.Lys148=) rs2132189552
NM_000368.5(TSC1):c.445C>T (p.Gln149Ter) rs118203384
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser) rs118203385
NM_000368.5(TSC1):c.47C>T (p.Ser16Phe) rs774900322
NM_000368.5(TSC1):c.491G>T (p.Trp164Leu) rs118203387
NM_000368.5(TSC1):c.503A>G (p.Lys168Arg) rs1007335343
NM_000368.5(TSC1):c.504del (p.Lys168fs) rs118203389
NM_000368.5(TSC1):c.508+1G>A rs118203390
NM_000368.5(TSC1):c.508+1G>C rs118203390
NM_000368.5(TSC1):c.509-14G>T rs984165284
NM_000368.5(TSC1):c.509-15G>A rs118203391
NM_000368.5(TSC1):c.515dup (p.Ala173fs) rs2539017364
NM_000368.5(TSC1):c.516G>A (p.Val172=) rs1419763219
NM_000368.5(TSC1):c.520G>T (p.Glu174Ter) rs118203392
NM_000368.5(TSC1):c.527_528del (p.Tyr176fs) rs118203394
NM_000368.5(TSC1):c.530del (p.Leu177fs) rs397514794
NM_000368.5(TSC1):c.539T>C (p.Leu180Pro) rs118203396
NM_000368.5(TSC1):c.542A>C (p.His181Pro) rs397515294
NM_000368.5(TSC1):c.542A>G (p.His181Arg) rs397515294
NM_000368.5(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.5(TSC1):c.553T>G (p.Tyr185Asp) rs2132158758
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr) rs1279777367
NM_000368.5(TSC1):c.563_564del (p.Phe188fs) rs118203399
NM_000368.5(TSC1):c.569G>C (p.Arg190Pro) rs118203402
NM_000368.5(TSC1):c.571C>G (p.Leu191Val) rs1846585825
NM_000368.5(TSC1):c.572T>A (p.Leu191His) rs118203403
NM_000368.5(TSC1):c.572T>G (p.Leu191Arg) rs118203403
NM_000368.5(TSC1):c.575del (p.Tyr192fs) rs118203405
NM_000368.5(TSC1):c.576T>G (p.Tyr192Ter) rs118203406
NM_000368.5(TSC1):c.585C>A (p.Tyr195Ter) rs118203407
NM_000368.5(TSC1):c.590dup (p.Cys197fs) rs397514868
NM_000368.5(TSC1):c.591dup (p.Asn198fs) rs397514836
NM_000368.5(TSC1):c.593_595del (p.Asn198_Phe199delinsIle) rs118203408
NM_000368.5(TSC1):c.597_603del (p.Val200fs) rs118203409
NM_000368.5(TSC1):c.599dup (p.Ser201fs) rs118203411
NM_000368.5(TSC1):c.600C>A (p.Val200=) rs2132154133
NM_000368.5(TSC1):c.602_604del (p.Ser201del) rs118203412
NM_000368.5(TSC1):c.607_608dup (p.Leu203fs) rs118203413
NM_000368.5(TSC1):c.611G>C (p.Arg204Pro) rs397514834
NM_000368.5(TSC1):c.622A>G (p.Ser208Gly) rs778671811
NM_000368.5(TSC1):c.624del (p.Ser208fs) rs397514837
NM_000368.5(TSC1):c.642G>T (p.Glu214Asp) rs904190788
NM_000368.5(TSC1):c.647T>C (p.Phe216Ser) rs118203416
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer) rs118203417
NM_000368.5(TSC1):c.648del (p.Phe216fs) rs118203417
NM_000368.5(TSC1):c.654A>C (p.Glu218Asp) rs2539008409
NM_000368.5(TSC1):c.654dup (p.Val219fs) rs118203418
NM_000368.5(TSC1):c.660C>T (p.Val220=) rs1588346808
NM_000368.5(TSC1):c.663+10A>C rs397514833
NM_000368.5(TSC1):c.663+39dup rs118203421
NM_000368.5(TSC1):c.663+7T>A rs118203420
NM_000368.5(TSC1):c.664-15A>G rs118203422
NM_000368.5(TSC1):c.664-1G>C rs118203423
NM_000368.5(TSC1):c.665del (p.Pro222fs) rs118203425
NM_000368.5(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000368.5(TSC1):c.681G>C (p.Val227=)
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.5(TSC1):c.683G>A (p.Arg228Gln) rs1223799508
NM_000368.5(TSC1):c.690T>C (p.His230=) rs2132136607
NM_000368.5(TSC1):c.694G>T (p.Glu232Ter) rs118203429
NM_000368.5(TSC1):c.694del (p.Glu232fs) rs118203428
NM_000368.5(TSC1):c.709dup (p.Ser237fs) rs118203430
NM_000368.5(TSC1):c.70del (p.Asp24fs) rs118203330
NM_000368.5(TSC1):c.712A>T (p.Lys238Ter) rs397514816
NM_000368.5(TSC1):c.720_721insA (p.Glu241fs) rs118203431
NM_000368.5(TSC1):c.724C>T (p.Leu242=) rs118203432
NM_000368.5(TSC1):c.732del (p.Arg245fs) rs118203433
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.737+1G>A rs118203438
NM_000368.5(TSC1):c.737+1G>T rs118203438
NM_000368.5(TSC1):c.737+1del rs118203435
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.5(TSC1):c.737G>C (p.Arg246Thr) rs118203436
NM_000368.5(TSC1):c.737G>T (p.Arg246Met) rs118203436
NM_000368.5(TSC1):c.738-2A>G rs118203440
NM_000368.5(TSC1):c.738-36_747del rs397514839
NM_000368.5(TSC1):c.738G>A (p.Arg246=) rs118203441
NM_000368.5(TSC1):c.742A>T (p.Lys248Ter) rs118203442
NM_000368.5(TSC1):c.745A>T (p.Arg249Ter) rs118203443
NM_000368.5(TSC1):c.745del (p.Arg249fs) rs118203444
NM_000368.5(TSC1):c.747A>G (p.Arg249=) rs2538897348
NM_000368.5(TSC1):c.749T>A (p.Leu250Ter) rs118203447
NM_000368.5(TSC1):c.749T>C (p.Leu250Ser) rs118203447
NM_000368.5(TSC1):c.749T>G (p.Leu250Ter) rs118203447
NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer) rs118203445
NM_000368.5(TSC1):c.749dup (p.Leu250fs) rs118203445
NM_000368.5(TSC1):c.759T>C (p.His253=) rs748775797
NM_000368.5(TSC1):c.771C>A (p.Ile257=) rs1060504854
NM_000368.5(TSC1):c.771del (p.Ile257fs) rs118203449
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter) rs118203450
NM_000368.5(TSC1):c.791T>C (p.Leu264Pro)
NM_000368.5(TSC1):c.792G>A (p.Leu264=) rs1257538409
NM_000368.5(TSC1):c.792_793dup (p.Asp265fs) rs2538894614
NM_000368.5(TSC1):c.799A>C (p.Thr267Pro)
NM_000368.5(TSC1):c.812_813del (p.Ser270_Tyr271insTer) rs118203451
NM_000368.5(TSC1):c.813T>A (p.Tyr271Ter) rs118203452
NM_000368.5(TSC1):c.814G>T (p.Glu272Ter) rs397514872
NM_000368.5(TSC1):c.81T>A (p.Ala27=) rs1588363327
NM_000368.5(TSC1):c.81T>C (p.Ala27=) rs1588363327
NM_000368.5(TSC1):c.824_825dup (p.Ser276fs) rs118203453
NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter) rs118203454
NM_000368.5(TSC1):c.831_832del (p.His279fs) rs118203455
NM_000368.5(TSC1):c.834_835del (p.His279fs) rs118203457
NM_000368.5(TSC1):c.838C>T (p.Gln280Ter) rs118203458
NM_000368.5(TSC1):c.83T>A (p.Val28Asp) rs2539143116
NM_000368.5(TSC1):c.844T>G (p.Ser282Ala) rs2131998892
NM_000368.5(TSC1):c.845C>A (p.Ser282Ter) rs118203459
NM_000368.5(TSC1):c.846dup (p.Ala283fs) rs118203460
NM_000368.5(TSC1):c.851G>T (p.Arg284Leu) rs151309813
NM_000368.5(TSC1):c.852C>T (p.Arg284=) rs769706203
NM_000368.5(TSC1):c.856C>T (p.Pro286Ser) rs1047485135
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter) rs397514867
NM_000368.5(TSC1):c.870C>T (p.Ala290=) rs779155575
NM_000368.5(TSC1):c.873T>C (p.Asp291=) rs753928162
NM_000368.5(TSC1):c.878C>T (p.Thr293Ile) rs756681916
NM_000368.5(TSC1):c.891T>A (p.Tyr297Ter) rs118203461
NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter) rs118203461
NM_000368.5(TSC1):c.901C>T (p.Gln301Ter) rs118203463
NM_000368.5(TSC1):c.901_902del (p.Gln301fs) rs118203464
NM_000368.5(TSC1):c.901_913+1del rs118203465
NM_000368.5(TSC1):c.902A>G (p.Gln301Arg) rs1389512342
NM_000368.5(TSC1):c.906T>C (p.Asn302=) rs2131993782
NM_000368.5(TSC1):c.90A>G (p.Lys30=) rs1847032608
NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter) rs118203466
NM_000368.5(TSC1):c.912_913+5del rs118203467
NM_000368.5(TSC1):c.913+1G>A rs118203470
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg) rs118203468
NM_000368.5(TSC1):c.913G>T (p.Gly305Trp) rs118203468
NM_000368.5(TSC1):c.914-18T>C rs118203471
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.91G>C (p.Glu31Gln) rs1847032440
NM_000368.5(TSC1):c.921T>C (p.Ala307=) rs397514826
NM_000368.5(TSC1):c.923C>A (p.Thr308Asn) rs1554817432
NM_000368.5(TSC1):c.929C>G (p.Thr310Ser) rs1588324860
NM_000368.5(TSC1):c.932C>T (p.Pro311Leu) rs776158460
NM_000368.5(TSC1):c.936C>A (p.Tyr312Ter) rs118203472
NM_000368.5(TSC1):c.959_965del (p.Leu320fs) rs1588324615
NM_000368.5(TSC1):c.972G>A (p.Gly324=) rs118203473
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter) rs118203474
NM_000368.5(TSC1):c.974A>G (p.Gln325Arg) rs1564488890
NM_000368.5(TSC1):c.978A>G (p.Leu326=) rs1060504862
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe) rs1847031671
NM_000368.5(TSC1):c.983dup (p.Thr329fs) rs118203475
NM_000368.5(TSC1):c.988_989del (p.Leu330fs) rs118203477
NM_000368.5(TSC1):c.988dup (p.Leu330fs) rs118203476
NM_000368.5(TSC1):c.989_990del (p.Leu330fs) rs118203479
NM_000368.5(TSC1):c.989del (p.Leu330fs) rs397514870
NM_000368.5(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000368.5(TSC1):c.994_995insA (p.Ser332fs) rs118203480
NM_000368.5(TSC1):c.9A>G (p.Gln3=) rs1588363733
NM_000548.3(TSC2):c.(1445_1599)del (p.Glu(1445_1599)Glyfs)
NM_000548.3(TSC2):c.1258-?_1599+?del (p.?)
NM_000548.3(TSC2):c.2021_2022insA (p.Ala675Cysfs) rs606231381
NM_000548.3(TSC2):c.3611_3627dup rs137854088
NM_000548.3(TSC2):c.4034_4035insCTTA (p.Lys1345Asnfs) rs137854341
NM_000548.3(TSC2):c.4991delG rs137854064
NM_000548.3(TSC2):c.5068+27_5069-47dup34
NM_000548.3(TSC2):c.567_568dup (p.Tyr190Phefs) rs137854332
NM_000548.3(TSC2):c.[3623_3647del;3745_3756dup]
NM_000548.3(TSC2):c.[4358_4359delCC; 4361_4372del12]
NM_000548.3(TSC2):c.[4621_4629del9;4621_4634ins14]
NM_000548.3(TSC2):c.[976-20T>A;976-17_976-1dup]
NM_000548.3:c.*61insG
NM_000548.3:c.3673_3674insNNNNN
NM_000548.3:c.3884-15G>A
NM_000548.3:c.971_1027del
NM_000548.4(TSC2):c.*67_*69delTGAins5
NM_000548.4(TSC2):c.2647_2648ins24
NM_000548.4(TSC2):c.2836_2837ins37
NM_000548.4(TSC2):c.2967-?_3610+?del
NM_000548.4(TSC2):c.3124_3125ins20
NM_000548.4(TSC2):c.4403_4404ins27
NM_000548.4(TSC2):c.4598_4599ins29
NM_000548.4(TSC2):c.4920_4921ins17
NM_000548.5(TSC2):c.*127T>G rs34379884
NM_000548.5(TSC2):c.*128G>A rs730882074
NM_000548.5(TSC2):c.*145del rs202247051
NM_000548.5(TSC2):c.*154dup rs397514891
NM_000548.5(TSC2):c.*23C>T rs774841226
NM_000548.5(TSC2):c.*55TAAA[1] rs137854184
NM_000548.5(TSC2):c.*5G>T rs201342697
NM_000548.5(TSC2):c.*61_*62del rs36032671
NM_000548.5(TSC2):c.*62_*63del rs397515122
NM_000548.5(TSC2):c.*6G>A rs397515008
NM_000548.5(TSC2):c.*71C>A rs45498900
NM_000548.5(TSC2):c.*86T>G rs915706457
NM_000548.5(TSC2):c.-13G>T
NM_000548.5(TSC2):c.-29-10G>C rs28537973
NM_000548.5(TSC2):c.-30+1G>C rs587778004
NM_000548.5(TSC2):c.-30+1G>T rs587778004
NM_000548.5(TSC2):c.-30_-30+11del rs2548336970
NM_000548.5(TSC2):c.-33_-30+10del rs2548336887
NM_000548.5(TSC2):c.-4C>T rs1596233597
NM_000548.5(TSC2):c.-85G>C rs540716235
NM_000548.5(TSC2):c.-87A>G rs886051785
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala) rs45484892
NM_000548.5(TSC2):c.1001T>G (p.Val334Gly) rs45484892
NM_000548.5(TSC2):c.1002G>T (p.Val334=) rs2151135280
NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys) rs45517144
NM_000548.5(TSC2):c.1005C>G (p.Ser335=) rs397514924
NM_000548.5(TSC2):c.1005C>T (p.Ser335=) rs397514924
NM_000548.5(TSC2):c.1006T>C (p.Tyr336His) rs2086522579
NM_000548.5(TSC2):c.1007_1008del (p.Ser335_Tyr336insTer) rs397515002
NM_000548.5(TSC2):c.1009G>A (p.Glu337Lys) rs45517145
NM_000548.5(TSC2):c.1009G>T (p.Glu337Ter) rs45517145
NM_000548.5(TSC2):c.1011_1014delinsCATGGCAT (p.Glu337fs) rs137854269
NM_000548.5(TSC2):c.1017C>G (p.Val339=) rs1327205698
NM_000548.5(TSC2):c.1017C>T (p.Val339=)
NM_000548.5(TSC2):c.1019T>C (p.Leu340Pro) rs397515192
NM_000548.5(TSC2):c.1029C>T (p.Thr343=) rs45468201
NM_000548.5(TSC2):c.1034T>G (p.Leu345Arg) rs45451295
NM_000548.5(TSC2):c.1037T>C (p.Ile346Thr) rs2151136498
NM_000548.5(TSC2):c.103C>T (p.Gln35Ter) rs137854105
NM_000548.5(TSC2):c.1042A>T (p.Lys348Ter) rs45517146
NM_000548.5(TSC2):c.1052A>G (p.Lys351Arg) rs748109163
NM_000548.5(TSC2):c.1054G>A (p.Glu352Lys) rs1596298442
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter) rs45469896
NM_000548.5(TSC2):c.1061A>T (p.Gln354Leu) rs1394071689
NM_000548.5(TSC2):c.1061_1119+22dup rs2548521595
NM_000548.5(TSC2):c.1070C>A (p.Ala357Glu) rs150195368
NM_000548.5(TSC2):c.107C>T (p.Thr36Met) rs376280172
NM_000548.5(TSC2):c.1080dup (p.Leu361fs) rs397515198
NM_000548.5(TSC2):c.1082T>C (p.Leu361Pro) rs45517147
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro) rs137854345
NM_000548.5(TSC2):c.1086G>A (p.Leu362=) rs1416323572
NM_000548.5(TSC2):c.1090ATC[1] (p.Ile365del) rs137854367
NM_000548.5(TSC2):c.1092C>T (p.Ile364=) rs2151138326
NM_000548.5(TSC2):c.1094_1095del (p.Ile365fs) rs137854423
NM_000548.5(TSC2):c.1095C>G (p.Ile365Met) rs757135168
NM_000548.5(TSC2):c.1096G>C (p.Glu366Gln) rs45517148
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.1098A>G (p.Glu366=) rs113071226
NM_000548.5(TSC2):c.1099C>T (p.Arg367Trp) rs757844109
NM_000548.5(TSC2):c.1099del (p.Arg367fs) rs397515273
NM_000548.5(TSC2):c.109dup (p.Glu37fs) rs137854178
NM_000548.5(TSC2):c.10C>T (p.Pro4Ser) rs2150969834
NM_000548.5(TSC2):c.1100G>C (p.Arg367Pro) rs1800725
NM_000548.5(TSC2):c.1101G>A (p.Arg367=) rs45517149
NM_000548.5(TSC2):c.1101G>C (p.Arg367=) rs45517149
NM_000548.5(TSC2):c.1105C>T (p.Leu369Phe) rs1195544121
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter) rs45469099
NM_000548.5(TSC2):c.1113G>T (p.Gln371His) rs571767462
NM_000548.5(TSC2):c.1117C>T (p.Gln373Ter) rs45458694
NM_000548.5(TSC2):c.1118A>C (p.Gln373Pro) rs397515131
NM_000548.5(TSC2):c.1119+1G>A rs45475793
NM_000548.5(TSC2):c.1119+2T>G rs137854173
NM_000548.5(TSC2):c.1119+6G>A rs397515305
NM_000548.5(TSC2):c.1121C>G (p.Thr374Ser) rs1440918649
NM_000548.5(TSC2):c.1135del (p.Glu379fs) rs137854072
NM_000548.5(TSC2):c.1142G>A (p.Arg381Lys) rs45465395
NM_000548.5(TSC2):c.1143_1174del (p.Thr382fs) rs137854007
NM_000548.5(TSC2):c.1143del (p.Thr382fs) rs397514970
NM_000548.5(TSC2):c.1146C>T (p.Thr382=) rs887128869
NM_000548.5(TSC2):c.114del (p.Phe38fs) rs137854355
NM_000548.5(TSC2):c.114dup (p.Ile39fs) rs137854355
NM_000548.5(TSC2):c.1151T>A (p.Val384Asp) rs397515214
NM_000548.5(TSC2):c.115del (p.Ile39fs) rs397515078
NM_000548.5(TSC2):c.1160T>C (p.Leu387Pro) rs397515123
NM_000548.5(TSC2):c.1160_1167del (p.Leu387fs) rs137854398
NM_000548.5(TSC2):c.1167del (p.Thr390fs) rs137854283
NM_000548.5(TSC2):c.1175A>C (p.Glu392Ala)
NM_000548.5(TSC2):c.1175A>G (p.Glu392Gly)
NM_000548.5(TSC2):c.1181T>C (p.Leu394Pro) rs2548537534
NM_000548.5(TSC2):c.1186G>C (p.Asp396His) rs1596303501
NM_000548.5(TSC2):c.1192A>G (p.Asn398Asp) rs2548537658
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys) rs773920155
NM_000548.5(TSC2):c.1204G>A (p.Gly402Arg) rs771561593
NM_000548.5(TSC2):c.120del (p.Thr41fs) rs397515085
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter) rs45457701
NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly) rs1057518321
NM_000548.5(TSC2):c.1217G>A (p.Arg406Lys) rs2086693907
NM_000548.5(TSC2):c.1219T>G (p.Tyr407Asp) rs45517156
NM_000548.5(TSC2):c.1220A>G (p.Tyr407Cys) rs1596303621
NM_000548.5(TSC2):c.1220_1221del (p.Tyr407fs) rs137854080
NM_000548.5(TSC2):c.1220_1240del (p.Tyr407_Arg413del) rs137853998
NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter) rs397514897
NM_000548.5(TSC2):c.1224del (p.Phe408fs) rs137854089
NM_000548.5(TSC2):c.1224dup (p.Glu409Ter) rs137854089
NM_000548.5(TSC2):c.1226_1230del (p.Glu409fs) rs137854127
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.1234del (p.Glu412fs) rs397515027
NM_000548.5(TSC2):c.1235A>T (p.Glu412Val) rs137854026
NM_000548.5(TSC2):c.1246G>T (p.Asp416Tyr) rs45517157
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter) rs45517158
NM_000548.5(TSC2):c.1254G>T (p.Arg418Ser) rs767670580
NM_000548.5(TSC2):c.1254del (p.Arg418fs) rs2548538848
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser) rs45517159
NM_000548.5(TSC2):c.1257+107dup rs397514987
NM_000548.5(TSC2):c.1257+11del rs2548539096
NM_000548.5(TSC2):c.1257+1G>A rs397515066
NM_000548.5(TSC2):c.1257+21G>A rs397514998
NM_000548.5(TSC2):c.1257+221_1257+226del rs137854370
NM_000548.5(TSC2):c.1257+2T>C rs45509697
NM_000548.5(TSC2):c.1257+2T>G rs45509697
NM_000548.5(TSC2):c.1258-1G>A rs397515182
NM_000548.5(TSC2):c.1258-2A>C rs45517160
NM_000548.5(TSC2):c.1258-30G>T rs397515172
NM_000548.5(TSC2):c.1258-32C>G rs137854285
NM_000548.5(TSC2):c.1258-3C>G rs45517161
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter) rs796053484
NM_000548.5(TSC2):c.1266_1267del (p.Leu423fs) rs137854238
NM_000548.5(TSC2):c.1270C>A (p.Leu424Met) rs1053117188
NM_000548.5(TSC2):c.1281C>G (p.Ile427Met) rs45478892
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1287T>G (p.Tyr429Ter) rs45493394
NM_000548.5(TSC2):c.1290A>C (p.Arg430Ser) rs2548545805
NM_000548.5(TSC2):c.1303C>A (p.His435Asn) rs760896048
NM_000548.5(TSC2):c.1307C>A (p.Pro436Gln) rs796053485
NM_000548.5(TSC2):c.1308G>C (p.Pro436=) rs753764275
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu) rs777457815
NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter) rs45515894
NM_000548.5(TSC2):c.1332C>G (p.Asn444Lys) rs535984356
NM_000548.5(TSC2):c.1336C>T (p.Gln446Ter) rs45517163
NM_000548.5(TSC2):c.1337_1340dup (p.Leu448fs) rs137854318
NM_000548.5(TSC2):c.1337del (p.Gln446fs) rs137854311
NM_000548.5(TSC2):c.133C>T (p.Leu45=) rs1555494707
NM_000548.5(TSC2):c.133_136del (p.Leu45fs) rs137854360
NM_000548.5(TSC2):c.1341G>T (p.Ala447=) rs141609319
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_000548.5(TSC2):c.1347G>C (p.Met449Ile) rs45443091
NM_000548.5(TSC2):c.1348G>A (p.Glu450Lys) rs45491095
NM_000548.5(TSC2):c.1348G>T (p.Glu450Ter) rs45491095
NM_000548.5(TSC2):c.1352_1353del (p.Arg451fs) rs397515082
NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu) rs769147552
NM_000548.5(TSC2):c.1356C>G (p.Phe452Leu) rs769147552
NM_000548.5(TSC2):c.1361+1G>A rs45517164
NM_000548.5(TSC2):c.1361+2T>C rs397515301
NM_000548.5(TSC2):c.1361+2T>G rs397515301
NM_000548.5(TSC2):c.1361+54_1361+57del rs137854304
NM_000548.5(TSC2):c.1361+8del rs746102053
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1362-2A>G rs45517165
NM_000548.5(TSC2):c.1362-30dup rs137853980
NM_000548.5(TSC2):c.1362-4G>A rs397515145
NM_000548.5(TSC2):c.1362-5del rs2086819893
NM_000548.5(TSC2):c.1362-62G>C rs45517167
NM_000548.5(TSC2):c.1362G>A (p.Arg454=) rs374252944
NM_000548.5(TSC2):c.1362G>C (p.Arg454Ser) rs374252944
NM_000548.5(TSC2):c.1367A>G (p.Glu456Gly) rs876659386
NM_000548.5(TSC2):c.1369T>A (p.Ser457Thr) rs2151170866
NM_000548.5(TSC2):c.136A>T (p.Arg46Ter) rs137854266
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.1375G>T (p.Gly459Cys) rs1567432890
NM_000548.5(TSC2):c.1376G>A (p.Gly459Asp) rs886051788
NM_000548.5(TSC2):c.138+14C>G rs201204330
NM_000548.5(TSC2):c.138+1G>A rs45517091
NM_000548.5(TSC2):c.138+2T>C rs137854226
NM_000548.5(TSC2):c.138+2_138+3del rs397515056
NM_000548.5(TSC2):c.138+5G>A rs45481400
NM_000548.5(TSC2):c.1383G>A (p.Val461=) rs760393399
NM_000548.5(TSC2):c.1385G>A (p.Arg462His) rs45494392
NM_000548.5(TSC2):c.1385_1386delinsCT (p.Arg462Pro) rs137854323
NM_000548.5(TSC2):c.1385_1386dup (p.Ile463fs) rs397515037
NM_000548.5(TSC2):c.138_138+1del rs137854117
NM_000548.5(TSC2):c.139-11TC[3] rs758181221
NM_000548.5(TSC2):c.1391A>G (p.Lys464Arg) rs1033108057
NM_000548.5(TSC2):c.1393G>T (p.Val465Leu) rs758874054
NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro) rs45481199
NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg) rs45481199
NM_000548.5(TSC2):c.139_140del (p.Glu47fs) rs137853979
NM_000548.5(TSC2):c.1407del (p.Ser470fs) rs137854390
NM_000548.5(TSC2):c.1410del (p.Phe471fs) rs137854066
NM_000548.5(TSC2):c.1419G>T (p.Leu473=) rs1365563478
NM_000548.5(TSC2):c.141A>T (p.Glu47Asp) rs137854133
NM_000548.5(TSC2):c.1425del (p.Asn476fs) rs397515234
NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter) rs121964862
NM_000548.5(TSC2):c.1435T>C (p.Phe479Leu) rs2151173141
NM_000548.5(TSC2):c.1440T>G (p.Tyr480Ter) rs45514794
NM_000548.5(TSC2):c.1443+1G>T rs397515257
NM_000548.5(TSC2):c.1443+2T>G rs397515064
NM_000548.5(TSC2):c.1443+4C>G rs45517172
NM_000548.5(TSC2):c.1443G>A (p.Glu481=) rs137854876
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 rs781524288
NM_000548.5(TSC2):c.1444-1G>A rs45515902
NM_000548.5(TSC2):c.1444-1G>T rs45515902
NM_000548.5(TSC2):c.1444-2A>G rs45517174
NM_000548.5(TSC2):c.1447G>C (p.Glu483Gln) rs397515297
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) rs397515297
NM_000548.5(TSC2):c.1457A>T (p.Asn486Ile) rs45486599
NM_000548.5(TSC2):c.1468A>G (p.Ile490Val) rs45517175
NM_000548.5(TSC2):c.1470C>G (p.Ile490Met) rs753344988
NM_000548.5(TSC2):c.1472C>A (p.Ser491Ter) rs45517176
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val) rs45517177
NM_000548.5(TSC2):c.1478T>C (p.Leu493Pro) rs397515029
NM_000548.5(TSC2):c.1479C>T (p.Leu493=) rs137854145
NM_000548.5(TSC2):c.1491del (p.Glu498fs) rs137854346
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys) rs45517178
NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter) rs45517178
NM_000548.5(TSC2):c.1505del (p.His502fs) rs397514948
NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter) rs397514929
NM_000548.5(TSC2):c.1508del (p.Gln503fs) rs397514993
NM_000548.5(TSC2):c.1508dup (p.Val504fs) rs397515210
NM_000548.5(TSC2):c.1513C>G (p.Arg505Gly) rs45517179
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1520T>C (p.Leu507Pro) rs1413063599
NM_000548.5(TSC2):c.1525A>G (p.Thr509Ala) rs1042656602
NM_000548.5(TSC2):c.153A>C (p.Glu51Asp) rs746366461
NM_000548.5(TSC2):c.1546del (p.Ala516fs) rs397515272
NM_000548.5(TSC2):c.1553G>T (p.Gly518Val) rs1229407025
NM_000548.5(TSC2):c.1555del (p.Cys519fs) rs137854275
NM_000548.5(TSC2):c.1556G>C (p.Cys519Ser) rs2151191042
NM_000548.5(TSC2):c.1557C>T (p.Cys519=) rs2548571987
NM_000548.5(TSC2):c.1563dup (p.His522fs) rs137854023
NM_000548.5(TSC2):c.1564C>T (p.His522Tyr) rs397514991
NM_000548.5(TSC2):c.1564del (p.His522fs) rs137854297
NM_000548.5(TSC2):c.1564dup (p.His522fs) rs397515016
NM_000548.5(TSC2):c.1565A>C (p.His522Pro) rs397515147
NM_000548.5(TSC2):c.1566C>G (p.His522Gln) rs876659982
NM_000548.5(TSC2):c.1566_1567dup (p.His523fs) rs397514961
NM_000548.5(TSC2):c.1567C>T (p.His523Tyr) rs1567438108
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.1579_1582del (p.Leu527fs) rs137854246
NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro) rs397514922
NM_000548.5(TSC2):c.1583_1584del (p.Leu528fs) rs397514885
NM_000548.5(TSC2):c.1589T>C (p.Ile530Thr) rs2151191974
NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys) rs149222396
NM_000548.5(TSC2):c.1599+16C>T rs45517181
NM_000548.5(TSC2):c.1599+1G>A rs45517182
NM_000548.5(TSC2):c.1599+1G>T rs45517182
NM_000548.5(TSC2):c.1599+2T>C rs45517183
NM_000548.5(TSC2):c.1599+5G>A rs397515100
NM_000548.5(TSC2):c.1599+82_1599+84del rs397515135
NM_000548.5(TSC2):c.1599G>A (p.Lys533=) rs1555502589
NM_000548.5(TSC2):c.1599G>C (p.Lys533Asn) rs1555502589
NM_000548.5(TSC2):c.1600-13C>G rs1800712
NM_000548.5(TSC2):c.1600-14C>A rs45517185
NM_000548.5(TSC2):c.1600-14C>T rs45517185
NM_000548.5(TSC2):c.1600-30dup rs397515089
NM_000548.5(TSC2):c.1600-3A>G rs45517186
NM_000548.5(TSC2):c.1600-8C>T rs1555503101
NM_000548.5(TSC2):c.1607C>T (p.Ala536Val) rs45517187
NM_000548.5(TSC2):c.1610_1622del (p.Arg537fs) rs397515148
NM_000548.5(TSC2):c.1611C>T (p.Arg537=) rs45469702
NM_000548.5(TSC2):c.1616_1628del (p.Leu539fs) rs137854281
NM_000548.5(TSC2):c.1616del (p.Leu539fs) rs137854100
NM_000548.5(TSC2):c.1619C>T (p.Ser540Phe) rs1296271407
NM_000548.5(TSC2):c.1621C>A (p.Pro541Thr) rs1596317209
NM_000548.5(TSC2):c.1621C>G (p.Pro541Ala) rs1596317209
NM_000548.5(TSC2):c.1624C>A (p.Pro542Thr) rs891347695
NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu) rs764191178
NM_000548.5(TSC2):c.1626C>A (p.Pro542=) rs376234285
NM_000548.5(TSC2):c.1628dup (p.Glu544fs) rs397515204
NM_000548.5(TSC2):c.1630del (p.Glu544fs) rs397514931
NM_000548.5(TSC2):c.1632G>T (p.Glu544Asp) rs137854075
NM_000548.5(TSC2):c.1633C>T (p.Leu545=) rs1060504103
NM_000548.5(TSC2):c.1642_1643del (p.Arg548fs) rs137854342
NM_000548.5(TSC2):c.1643G>A (p.Arg548Lys) rs748938385
NM_000548.5(TSC2):c.1643G>C (p.Arg548Thr) rs748938385
NM_000548.5(TSC2):c.1649_1650insACAT (p.Ala551fs) rs137854245
NM_000548.5(TSC2):c.1653C>G (p.Ala551=) rs202171361
NM_000548.5(TSC2):c.165C>G (p.Asn55Lys) rs1596245687
NM_000548.5(TSC2):c.1660T>C (p.Ser554Pro) rs1596317415
NM_000548.5(TSC2):c.1661C>A (p.Ser554Ter) rs45471596
NM_000548.5(TSC2):c.1663G>C (p.Ala555Pro) rs763183991
NM_000548.5(TSC2):c.1690G>A (p.Val564Ile) rs147072281
NM_000548.5(TSC2):c.1690G>C (p.Val564Leu) rs147072281
NM_000548.5(TSC2):c.1693del (p.Leu565fs) rs137854087
NM_000548.5(TSC2):c.1698_1716+1del rs397515151
NM_000548.5(TSC2):c.1699C>T (p.Leu567Phe) rs2087240694
NM_000548.5(TSC2):c.16A>G (p.Ser6Gly) rs1555494544
NM_000548.5(TSC2):c.1708A>G (p.Ile570Val) rs397515230
NM_000548.5(TSC2):c.1708_1710dup (p.Ile570dup) rs137854041
NM_000548.5(TSC2):c.1712T>C (p.Leu571Pro) rs397515093
NM_000548.5(TSC2):c.1715A>C (p.Gln572Pro) rs1596317664
NM_000548.5(TSC2):c.1716+10C>A rs45464995
NM_000548.5(TSC2):c.1716+1G>A rs45517190
NM_000548.5(TSC2):c.1716+5del rs137854417
NM_000548.5(TSC2):c.1716G>A (p.Gln572=) rs397514917
NM_000548.5(TSC2):c.1717-1G>A rs45517192
NM_000548.5(TSC2):c.1717-1G>T rs45517192
NM_000548.5(TSC2):c.1717-23T>G rs45517193
NM_000548.5(TSC2):c.1717-60_1840-201del rs2088100689
NM_000548.5(TSC2):c.171del (p.Ile58fs) rs397515042
NM_000548.5(TSC2):c.1729A>T (p.Thr577Ser) rs1204749633
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala) rs45517196
NM_000548.5(TSC2):c.1736C>T (p.Pro579Leu) rs1471786715
NM_000548.5(TSC2):c.1737_1814del (p.Ala580_Pro605del) rs137854373
NM_000548.5(TSC2):c.1739C>T (p.Ala580Val) rs765043471
NM_000548.5(TSC2):c.1741dup (p.Ser581fs) rs137854348
NM_000548.5(TSC2):c.1742G>A (p.Ser581Asn) rs45517197
NM_000548.5(TSC2):c.1748C>T (p.Ala583Val) rs763863196
NM_000548.5(TSC2):c.1758G>A (p.Val586=) rs1555505092
NM_000548.5(TSC2):c.1758_1759dup (p.Tyr587fs) rs397515116
NM_000548.5(TSC2):c.1759T>C (p.Tyr587His) rs1555505094
NM_000548.5(TSC2):c.1760A>G (p.Tyr587Cys) rs1487642536
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer) rs137854371
NM_000548.5(TSC2):c.1769T>C (p.Leu590Pro) rs137854229
NM_000548.5(TSC2):c.1771G>A (p.Val591Ile) rs984275273
NM_000548.5(TSC2):c.1771del (p.Val591fs) rs137854418
NM_000548.5(TSC2):c.1777C>T (p.His593Tyr) rs1555505123
NM_000548.5(TSC2):c.1778A>G (p.His593Arg) rs45517198
NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter) rs45517199
NM_000548.5(TSC2):c.1784A>C (p.Gln595Pro) rs781087045
NM_000548.5(TSC2):c.1787T>C (p.Leu596Pro) rs45517200
NM_000548.5(TSC2):c.1789C>T (p.His597Tyr) rs397515246
NM_000548.5(TSC2):c.1789_1791dup (p.His597dup) rs397514965
NM_000548.5(TSC2):c.1790A>G (p.His597Arg) rs137854322
NM_000548.5(TSC2):c.1791_1795del (p.His597fs) rs137854165
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) rs45517201
NM_000548.5(TSC2):c.1792_1794del (p.Tyr598del) rs397515083
NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys) rs45509791
NM_000548.5(TSC2):c.1793A>T (p.Tyr598Phe) rs45509791
NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter) rs45509094
NM_000548.5(TSC2):c.1796A>T (p.Lys599Met) rs45517202
NM_000548.5(TSC2):c.1796del (p.Lys599fs) rs137854125
NM_000548.5(TSC2):c.1804dup (p.Tyr602fs) rs397515132
NM_000548.5(TSC2):c.1808C>G (p.Thr603Ser) rs1318655892
NM_000548.5(TSC2):c.1814C>T (p.Pro605Leu) rs1555505178
NM_000548.5(TSC2):c.1819G>T (p.Ala607Ser) rs45517203
NM_000548.5(TSC2):c.1820C>A (p.Ala607Glu) rs397515296
NM_000548.5(TSC2):c.1821G>C (p.Ala607=) rs149543046
NM_000548.5(TSC2):c.1823GCA[3] (p.Ser609dup) rs137854260
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.1837C>T (p.Gln613Ter) rs45480292
NM_000548.5(TSC2):c.1838A>G (p.Gln613Arg) rs2151282389
NM_000548.5(TSC2):c.1839+1G>A rs45438400
NM_000548.5(TSC2):c.1839+1G>C rs45438400
NM_000548.5(TSC2):c.1839+1G>T rs45438400
NM_000548.5(TSC2):c.1839+5G>C rs200568460
NM_000548.5(TSC2):c.1839+6G>C rs45517204
NM_000548.5(TSC2):c.1840-11C>T rs754804519
NM_000548.5(TSC2):c.1840-12T>C rs2088378931
NM_000548.5(TSC2):c.1840-13C>G rs1186556063
NM_000548.5(TSC2):c.1840-1G>A rs397514953
NM_000548.5(TSC2):c.1840-1G>C rs397514953
NM_000548.5(TSC2):c.1840-2A>G rs45517205
NM_000548.5(TSC2):c.1840-2A>T rs45517205
NM_000548.5(TSC2):c.1840-3C>G rs397515154
NM_000548.5(TSC2):c.1840-4A>C rs1057523736
NM_000548.5(TSC2):c.1840-4A>G rs1057523736
NM_000548.5(TSC2):c.1840-6T>A rs747952317
NM_000548.5(TSC2):c.1840G>T (p.Ala614Ser) rs397515199
NM_000548.5(TSC2):c.1841C>A (p.Ala614Asp) rs45454398
NM_000548.5(TSC2):c.1841C>G (p.Ala614Gly) rs45454398
NM_000548.5(TSC2):c.1843T>G (p.Phe615Val) rs1446136662
NM_000548.5(TSC2):c.1844T>C (p.Phe615Ser) rs45481105
NM_000548.5(TSC2):c.1844_1845del (p.Ala614_Phe615insTer) rs137854248
NM_000548.5(TSC2):c.1848C>T (p.Asp616=)
NM_000548.5(TSC2):c.1851C>G (p.Phe617Leu) rs1446662814
NM_000548.5(TSC2):c.1856T>A (p.Leu619Ter) rs2543673284
NM_000548.5(TSC2):c.1856TGC[2] (p.Leu621del) rs397515195
NM_000548.5(TSC2):c.185G>A (p.Gly62Glu) rs397515045
NM_000548.5(TSC2):c.1862T>C (p.Leu621Pro) rs397514927
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.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1872delinsTT (p.Ser625fs) rs397515017
NM_000548.5(TSC2):c.1875A>C (p.Ser625=) rs1555505786
NM_000548.5(TSC2):c.1875A>G (p.Ser625=) rs1555505786
NM_000548.5(TSC2):c.1875_1876del (p.Leu626fs) rs397515073
NM_000548.5(TSC2):c.1879C>T (p.His627Tyr) rs2151297114
NM_000548.5(TSC2):c.187C>T (p.Gln63Ter) rs397515039
NM_000548.5(TSC2):c.187del (p.Gln63fs) rs397514903
NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly) rs45437797
NM_000548.5(TSC2):c.1885C>G (p.Leu629Val) rs570409651
NM_000548.5(TSC2):c.1885C>T (p.Leu629=) rs570409651
NM_000548.5(TSC2):c.1889_1893delinsATGCA (p.Gly630_Leu631delinsAspAla) rs397515215
NM_000548.5(TSC2):c.1893dup (p.Pro632fs) rs397515032
NM_000548.5(TSC2):c.1895C>G (p.Pro632Arg) rs750663771
NM_000548.5(TSC2):c.189G>T (p.Gln63His) rs2150996416
NM_000548.5(TSC2):c.1903G>A (p.Asp635Asn) rs1060500932
NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu) rs1596342515
NM_000548.5(TSC2):c.1909_1912del (p.Val637fs) rs137854069
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.1912G>T (p.Val638Leu) rs587778730
NM_000548.5(TSC2):c.1925C>A (p.Pro642His) rs1408228669
NM_000548.5(TSC2):c.1927dup (p.Tyr643fs) rs137854339
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile) rs746677177
NM_000548.5(TSC2):c.1933G>C (p.Val645Leu) rs746677177
NM_000548.5(TSC2):c.1934dup (p.Cys646fs) rs397515019
NM_000548.5(TSC2):c.193del (p.Cys65fs) rs397515080
NM_000548.5(TSC2):c.1942dup (p.Tyr648fs) rs137854151
NM_000548.5(TSC2):c.1944del (p.Asp647_Tyr648insTer) rs137854096
NM_000548.5(TSC2):c.1946+1G>C rs397514994
NM_000548.5(TSC2):c.1946+2T>C rs397515247
NM_000548.5(TSC2):c.1946+5G>T rs766646261
NM_000548.5(TSC2):c.1947-1G>A rs397515310
NM_000548.5(TSC2):c.1947-2A>G rs45517207
NM_000548.5(TSC2):c.1947-4G>A rs201633455
NM_000548.5(TSC2):c.1947-7T>C rs45450193
NM_000548.5(TSC2):c.1959_1960del (p.Gly654fs) rs137854144
NM_000548.5(TSC2):c.1959_1960dup (p.Gly654fs) rs137854144
NM_000548.5(TSC2):c.1960G>T (p.Gly654Cys) rs397515114
NM_000548.5(TSC2):c.1960_1961del (p.Gly654fs) rs137854349
NM_000548.5(TSC2):c.1965dup (p.Glu656Ter) rs137854082
NM_000548.5(TSC2):c.1967AGA[2] (p.Lys658del) rs137854104
NM_000548.5(TSC2):c.1969A>T (p.Lys657Ter) rs45488199
NM_000548.5(TSC2):c.196G>T (p.Glu66Ter) rs45517094
NM_000548.5(TSC2):c.1971G>C (p.Lys657Asn) rs1596344117
NM_000548.5(TSC2):c.1975_1981del (p.Thr659fs) rs137854124
NM_000548.5(TSC2):c.1981G>C (p.Gly661Arg) rs137854168
NM_000548.5(TSC2):c.1982_1983delinsTT (p.Gly661Val) rs137854103
NM_000548.5(TSC2):c.1987del (p.Leu663fs) rs137854310
NM_000548.5(TSC2):c.1987dup (p.Leu663fs) rs137854310
NM_000548.5(TSC2):c.1991C>A (p.Ser664Tyr) rs991714565
NM_000548.5(TSC2):c.1996C>T (p.Pro666Ser) rs2151305388
NM_000548.5(TSC2):c.19A>T (p.Lys7Ter) rs397514951
NM_000548.5(TSC2):c.2001A>G (p.Thr667=) rs1412129753
NM_000548.5(TSC2):c.2005C>A (p.Pro669Thr) rs2151305683
NM_000548.5(TSC2):c.2008C>G (p.Pro670Ala) rs1338802781
NM_000548.5(TSC2):c.2012G>A (p.Gly671Asp) rs775881847
NM_000548.5(TSC2):c.2016G>A (p.Pro672=) rs774517903
NM_000548.5(TSC2):c.2017G>C (p.Ala673Pro) rs2151306062
NM_000548.5(TSC2):c.2020C>T (p.Pro674Ser) rs760566516
NM_000548.5(TSC2):c.2024C>T (p.Ala675Val) rs1261337087
NM_000548.5(TSC2):c.2024_2042del (p.Ala675fs) rs137854309
NM_000548.5(TSC2):c.202G>C (p.Ala68Pro) rs767626323
NM_000548.5(TSC2):c.2031dup (p.Ala678fs) rs397515050
NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu) rs756536921
NM_000548.5(TSC2):c.2045G>T (p.Gly682Val)
NM_000548.5(TSC2):c.2046G>T (p.Gly682=) rs749536123
NM_000548.5(TSC2):c.2046del (p.Ser683fs) rs397515287
NM_000548.5(TSC2):c.2047T>G (p.Ser683Ala) rs878854080
NM_000548.5(TSC2):c.2049C>A (p.Ser683=) rs569518378
NM_000548.5(TSC2):c.2050del (p.Val684fs) rs397515141
NM_000548.5(TSC2):c.2052G>A (p.Val684=) rs2543704731
NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs) rs137854337
NM_000548.5(TSC2):c.205A>T (p.Lys69Ter) rs45517095
NM_000548.5(TSC2):c.2060C>T (p.Ser687Phe) rs1455799897
NM_000548.5(TSC2):c.2061C>A (p.Ser687=) rs1596344926
NM_000548.5(TSC2):c.2061_2067del (p.Leu688fs) rs137854211
NM_000548.5(TSC2):c.2067C>T (p.Leu689=) rs1060504107
NM_000548.5(TSC2):c.2071C>G (p.Arg691Gly) rs760489473
NM_000548.5(TSC2):c.2071del (p.Arg691fs) rs137854071
NM_000548.5(TSC2):c.2072G>A (p.Arg691His) rs370553131
NM_000548.5(TSC2):c.2073C>A (p.Arg691=) rs45512398
NM_000548.5(TSC2):c.2073_2074dup (p.Val692fs) rs397515197
NM_000548.5(TSC2):c.2074del (p.Val692fs) rs137854419
NM_000548.5(TSC2):c.2078T>C (p.Leu693Pro) rs45488191
NM_000548.5(TSC2):c.2078TGC[1] (p.Leu694del) rs137854234
NM_000548.5(TSC2):c.2082G>T (p.Leu694=) rs45458592
NM_000548.5(TSC2):c.2082_2083delinsTT (p.Gln695Ter) rs137854362
NM_000548.5(TSC2):c.2083C>T (p.Gln695Ter) rs45517209
NM_000548.5(TSC2):c.2086T>C (p.Cys696Arg) rs45483301
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.5(TSC2):c.2087_2088insAA (p.Cys696Ter) rs137854319
NM_000548.5(TSC2):c.2088C>A (p.Cys696Ter) rs137854217
NM_000548.5(TSC2):c.2089T>C (p.Leu697=) rs1596345177
NM_000548.5(TSC2):c.2089_2090dup (p.Leu697fs) rs137854189
NM_000548.5(TSC2):c.2090dup (p.Leu697fs) rs137854189
NM_000548.5(TSC2):c.2091G>T (p.Leu697Phe) rs2151308956
NM_000548.5(TSC2):c.2094G>C (p.Lys698Asn) rs752256613
NM_000548.5(TSC2):c.2095C>T (p.Gln699Ter) rs45517210
NM_000548.5(TSC2):c.2096A>G (p.Gln699Arg) rs1596345229
NM_000548.5(TSC2):c.2097+12C>T rs137854029
NM_000548.5(TSC2):c.2098-14T>C rs551711987
NM_000548.5(TSC2):c.2098-19A>G rs397515091
NM_000548.5(TSC2):c.2098-1G>A rs45517212
NM_000548.5(TSC2):c.2098-2A>G rs45501596
NM_000548.5(TSC2):c.2098-5C>G rs369072310
NM_000548.5(TSC2):c.2098G>A (p.Glu700Lys) rs45496402
NM_000548.5(TSC2):c.2103_2105dup (p.Asp702dup) rs137854265
NM_000548.5(TSC2):c.2103dup (p.Asp702Ter) rs137854320
NM_000548.5(TSC2):c.2104G>A (p.Asp702Asn) rs2151315707
NM_000548.5(TSC2):c.2106dup (p.Trp703fs) rs137854183
NM_000548.5(TSC2):c.2107dup (p.Trp703fs) rs397515047
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter) rs45517213
NM_000548.5(TSC2):c.2109G>A (p.Trp703Ter) rs45462192
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2114T>A (p.Val705Glu) rs397515068
NM_000548.5(TSC2):c.2114T>C (p.Val705Ala) rs397515068
NM_000548.5(TSC2):c.2119A>G (p.Lys707Glu) rs1596347145
NM_000548.5(TSC2):c.2123T>C (p.Leu708Pro) rs876659689
NM_000548.5(TSC2):c.2127del (p.Leu710fs) rs397515178
NM_000548.5(TSC2):c.2132G>C (p.Gly711Ala)
NM_000548.5(TSC2):c.2134A>G (p.Arg712Gly) rs2151316730
NM_000548.5(TSC2):c.2139G>C (p.Leu713=) rs757293747
NM_000548.5(TSC2):c.2142_2157del (p.Glu715fs) rs137854201
NM_000548.5(TSC2):c.2145_2158dup (p.Lys720fs) rs137854358
NM_000548.5(TSC2):c.2146T>G (p.Ser716Ala) rs1203066126
NM_000548.5(TSC2):c.2148C>T (p.Ser716=)
NM_000548.5(TSC2):c.2148_2149insGAGTCCC (p.Leu717fs) rs397514883
NM_000548.5(TSC2):c.2149del (p.Leu717fs) rs397514967
NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg) rs45517214
NM_000548.5(TSC2):c.2161G>A (p.Val721Met) rs768261185
NM_000548.5(TSC2):c.2163del (p.Leu722fs) rs137854109
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_000548.5(TSC2):c.2172_2176del (p.Thr725fs) rs137854216
NM_000548.5(TSC2):c.2178C>T (p.Ser726=) rs1380835459
NM_000548.5(TSC2):c.2182del (p.Cys728fs) rs137854032
NM_000548.5(TSC2):c.2183G>T (p.Cys728Phe) rs397514908
NM_000548.5(TSC2):c.2183dup (p.Cys728fs) rs397515280
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.2194C>A (p.Gln732Lys) rs45517216
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.2198T>C (p.Leu733Pro) rs45517217
NM_000548.5(TSC2):c.2199_2203del (p.Ala736fs) rs397515090
NM_000548.5(TSC2):c.21del (p.Asp8fs) rs137854019
NM_000548.5(TSC2):c.2202C>T (p.Cys734=) rs2151319241
NM_000548.5(TSC2):c.2203T>G (p.Ser735Ala) rs753059579
NM_000548.5(TSC2):c.2206_2210dup (p.Cys738fs) rs137854247
NM_000548.5(TSC2):c.2209C>T (p.Leu737Phe) rs1485034650
NM_000548.5(TSC2):c.2210T>C (p.Leu737Pro) rs45464093
NM_000548.5(TSC2):c.2211C>T (p.Leu737=) rs369851248
NM_000548.5(TSC2):c.221A>G (p.Glu74Gly) rs2084968438
NM_000548.5(TSC2):c.2220+1G>A rs137854361
NM_000548.5(TSC2):c.2220+1G>T rs137854361
NM_000548.5(TSC2):c.2220+2T>G rs397515121
NM_000548.5(TSC2):c.2220+32del rs137854354
NM_000548.5(TSC2):c.2220+3A>C rs397515133
NM_000548.5(TSC2):c.2221-1G>C rs45517218
NM_000548.5(TSC2):c.2221-2A>C rs45502196
NM_000548.5(TSC2):c.2221-2A>G rs45502196
NM_000548.5(TSC2):c.2221-7T>G rs45517219
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe) rs886051789
NM_000548.5(TSC2):c.2225C>G (p.Ser742Ter) rs45517220
NM_000548.5(TSC2):c.2230C>G (p.Pro744Ala) rs1596350020
NM_000548.5(TSC2):c.2231C>G (p.Pro744Arg) rs774759789
NM_000548.5(TSC2):c.2231del (p.Pro744fs) rs397515218
NM_000548.5(TSC2):c.2233_2234del (p.Lys745fs) rs137854006
NM_000548.5(TSC2):c.2235_2236del (p.Lys745fs) rs137854110
NM_000548.5(TSC2):c.2238A>C (p.Thr746=) rs1060504115
NM_000548.5(TSC2):c.2239C>A (p.Leu747Met) rs45517221
NM_000548.5(TSC2):c.2240_2241del (p.Leu747fs) rs137854126
NM_000548.5(TSC2):c.224A>G (p.Glu75Gly) rs397515049
NM_000548.5(TSC2):c.225+25AG[3] rs137854167
NM_000548.5(TSC2):c.225+2T>A rs397515105
NM_000548.5(TSC2):c.225+2T>G rs397515105
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.2254G>T (p.Gly752Cys) rs2151326864
NM_000548.5(TSC2):c.2257dup (p.Ala753fs) rs397514946
NM_000548.5(TSC2):c.226-1G>A rs397515134
NM_000548.5(TSC2):c.226-2A>G rs45517096
NM_000548.5(TSC2):c.226-32A>G rs137854185
NM_000548.5(TSC2):c.226-36_226-35del rs397515043
NM_000548.5(TSC2):c.226-3C>T rs2151025824
NM_000548.5(TSC2):c.2261del (p.Pro754fs) rs137854021
NM_000548.5(TSC2):c.2265_2268del (p.Glu755fs) rs2543764309
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2273C>T (p.Ser758Phe) rs45517223
NM_000548.5(TSC2):c.2277A>G (p.Arg759=) rs45517224
NM_000548.5(TSC2):c.2280T>C (p.Thr760=) rs2088693411
NM_000548.5(TSC2):c.2287C>G (p.His763Asp) rs758234726
NM_000548.5(TSC2):c.2290C>A (p.Leu764Met) rs777614710
NM_000548.5(TSC2):c.2290C>G (p.Leu764Val) rs777614710
NM_000548.5(TSC2):c.2294_2295dup (p.Val766fs) rs137854284
NM_000548.5(TSC2):c.2295C>G (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2306T>A (p.Val769Glu) rs45499191
NM_000548.5(TSC2):c.2313A>G (p.Thr771=) rs876658215
NM_000548.5(TSC2):c.2315C>A (p.Ala772Glu) rs397514984
NM_000548.5(TSC2):c.2318T>G (p.Leu773Ter) rs397515276
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter) rs45517225
NM_000548.5(TSC2):c.2334C>T (p.Asn778=) rs1320712673
NM_000548.5(TSC2):c.2338del (p.Leu780fs) rs137854086
NM_000548.5(TSC2):c.2347del (p.Thr783fs) rs137854385
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter) rs45517226
NM_000548.5(TSC2):c.2355+1G>A rs45517227
NM_000548.5(TSC2):c.2355+2T>C rs45517228
NM_000548.5(TSC2):c.2355+2_2355+5del rs137854250
NM_000548.5(TSC2):c.2355+2_2355+5delinsAGGTCAGAGC rs2088709144
NM_000548.5(TSC2):c.2355G>A (p.Gln785=) rs2088708544
NM_000548.5(TSC2):c.2356-12T>C rs1388493955
NM_000548.5(TSC2):c.2356-1G>A rs45481704
NM_000548.5(TSC2):c.2356-2A>C rs45517229
NM_000548.5(TSC2):c.2356-52_2357del rs1555507428
NM_000548.5(TSC2):c.2356-5T>G rs796053488
NM_000548.5(TSC2):c.2356-6C>T rs2151346147
NM_000548.5(TSC2):c.2357G>T (p.Arg786Leu) rs796053511
NM_000548.5(TSC2):c.2359G>T (p.Glu787Ter) rs45517231
NM_000548.5(TSC2):c.2362A>G (p.Met788Val)
NM_000548.5(TSC2):c.2363T>G (p.Met788Arg) rs45485599
NM_000548.5(TSC2):c.2363_2377delinsC (p.Met788fs) rs137854061
NM_000548.5(TSC2):c.2369A>G (p.Tyr790Cys) rs1555507478
NM_000548.5(TSC2):c.2369_2371del (p.Tyr790del) rs397515224
NM_000548.5(TSC2):c.2370C>A (p.Tyr790Ter) rs45517232
NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter) rs45517232
NM_000548.5(TSC2):c.2373C>T (p.Cys791=) rs2088913508
NM_000548.5(TSC2):c.2375T>C (p.Leu792Pro) rs137854241
NM_000548.5(TSC2):c.2375T>G (p.Leu792Arg) rs137854241
NM_000548.5(TSC2):c.2379G>T (p.Glu793Asp) rs2151347499
NM_000548.5(TSC2):c.2380C>T (p.Gln794Ter) rs45517233
NM_000548.5(TSC2):c.2380dup (p.Gln794fs) rs397514995
NM_000548.5(TSC2):c.2381dup (p.Leu796fs) rs397515282
NM_000548.5(TSC2):c.2386C>G (p.Leu796Val) rs1596356291
NM_000548.5(TSC2):c.2389A>T (p.Ile797Phe) rs1240217406
NM_000548.5(TSC2):c.238G>A (p.Ala80Thr) rs2085359793
NM_000548.5(TSC2):c.2390T>C (p.Ile797Thr) rs2088916279
NM_000548.5(TSC2):c.2392del (p.His798fs) rs137854147
NM_000548.5(TSC2):c.2394C>T (p.His798=) rs547019464
NM_000548.5(TSC2):c.2397C>T (p.Arg799=) rs2151348621
NM_000548.5(TSC2):c.2399del (p.Cys800fs) rs137854377
NM_000548.5(TSC2):c.2399dup (p.Cys800fs) rs137854170
NM_000548.5(TSC2):c.239_249dup (p.Ala84fs) rs397515158
NM_000548.5(TSC2):c.2404dup (p.Ser802fs) rs137854182
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.2421del (p.Leu808fs) rs2543817109
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser) rs45489791
NM_000548.5(TSC2):c.2424_2426delinsT (p.Leu808fs) rs397514911
NM_000548.5(TSC2):c.2426C>A (p.Ser809Tyr) rs2151350205
NM_000548.5(TSC2):c.2430dup (p.Cys811fs) rs137853997
NM_000548.5(TSC2):c.2431T>G (p.Cys811Gly) rs2151350705
NM_000548.5(TSC2):c.2434A>G (p.Ser812Gly) rs2151350854
NM_000548.5(TSC2):c.243C>G (p.Leu81=) rs751068235
NM_000548.5(TSC2):c.2440G>A (p.Glu814Lys) rs45485395
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.245G>A (p.Trp82Ter) rs397514933
NM_000548.5(TSC2):c.2461A>T (p.Lys821Ter) rs45517237
NM_000548.5(TSC2):c.2468dup (p.Pro824fs) rs137853992
NM_000548.5(TSC2):c.2470_2473del (p.Pro824fs) rs137854206
NM_000548.5(TSC2):c.2473G>C (p.Val825Leu) rs149860212
NM_000548.5(TSC2):c.2473G>T (p.Val825Phe) rs149860212
NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro) rs45517239
NM_000548.5(TSC2):c.2489T>G (p.Leu830Arg) rs137854047
NM_000548.5(TSC2):c.2490C>T (p.Leu830=) rs768573698
NM_000548.5(TSC2):c.2491_2492insAT (p.Thr831fs) rs137854379
NM_000548.5(TSC2):c.2493G>A (p.Thr831=) rs773645613
NM_000548.5(TSC2):c.2498_2502del (p.Ile833fs) rs137854286
NM_000548.5(TSC2):c.2498del (p.Ile833fs) rs397514944
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.2508A>G (p.Thr836=) rs137854242
NM_000548.5(TSC2):c.251C>A (p.Ala84Glu) rs35660529
NM_000548.5(TSC2):c.2520C>T (p.Ala840=) rs147683438
NM_000548.5(TSC2):c.2525C>T (p.Pro842Leu) rs2151355682
NM_000548.5(TSC2):c.2525del (p.Pro842fs) rs137854375
NM_000548.5(TSC2):c.2530del (p.Leu844fs) rs137854372
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro) rs397515303
NM_000548.5(TSC2):c.2531T>G (p.Leu844Arg) rs397515303
NM_000548.5(TSC2):c.2537T>A (p.Phe846Tyr) rs45509000
NM_000548.5(TSC2):c.2538C>T (p.Phe846=) rs1360361868
NM_000548.5(TSC2):c.2539del (p.Leu847fs) rs137854140
NM_000548.5(TSC2):c.2539dup (p.Leu847fs) rs137854140
NM_000548.5(TSC2):c.2540T>C (p.Leu847Pro) rs45517240
NM_000548.5(TSC2):c.2545+2T>C rs397515262
NM_000548.5(TSC2):c.2545+3G>A rs2088950824
NM_000548.5(TSC2):c.2545+45T>A rs45517244
NM_000548.5(TSC2):c.2545+6T>G rs45517245
NM_000548.5(TSC2):c.2545+95dup rs397515216
NM_000548.5(TSC2):c.2546-11C>G rs397515157
NM_000548.5(TSC2):c.2546-15T>A rs371256839
NM_000548.5(TSC2):c.2546-15T>G rs371256839
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.2546-2A>T rs45517246
NM_000548.5(TSC2):c.2546-40_2546-27del rs397515055
NM_000548.5(TSC2):c.2547T>C (p.Thr849=) rs1596364841
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro) rs45517248
NM_000548.5(TSC2):c.2583del (p.Ala862fs) rs137854264
NM_000548.5(TSC2):c.258G>C (p.Ala86=) rs397514912
NM_000548.5(TSC2):c.258_283del (p.Asp87fs) rs137854271
NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter) rs45517250
NM_000548.5(TSC2):c.2608_2613dup (p.Ala870_Ile871dup) rs137854092
NM_000548.5(TSC2):c.2613C>T (p.Ile871=) rs1555508408
NM_000548.5(TSC2):c.2619G>T (p.Leu873=) rs137854054
NM_000548.5(TSC2):c.2623T>C (p.Tyr875His) rs2089272680
NM_000548.5(TSC2):c.2628C>A (p.Thr876=) rs778678783
NM_000548.5(TSC2):c.2628dup (p.Asn877fs) rs137854097
NM_000548.5(TSC2):c.2630A>G (p.Asn877Ser) rs1567482364
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2635_2636insA (p.Ser879fs) rs397514943
NM_000548.5(TSC2):c.2638A>G (p.Lys880Glu) rs2151382293
NM_000548.5(TSC2):c.2638_2639+2del rs137854081
NM_000548.5(TSC2):c.2639+1G>C rs45517252
NM_000548.5(TSC2):c.2639+1dup rs137854394
NM_000548.5(TSC2):c.2639+44C>G rs1800715
NM_000548.5(TSC2):c.2639+5G>A rs397515171
NM_000548.5(TSC2):c.2639A>G (p.Lys880Arg) rs2089276233
NM_000548.5(TSC2):c.2640-13C>A rs201184637
NM_000548.5(TSC2):c.2640-15C>G rs1011282445
NM_000548.5(TSC2):c.2640-1G>A rs397515203
NM_000548.5(TSC2):c.2640-2A>T rs137854380
NM_000548.5(TSC2):c.2640-4T>C rs1596366489
NM_000548.5(TSC2):c.2640-4_2640-3del rs1555508570
NM_000548.5(TSC2):c.2641T>C (p.Phe881Leu) rs45463498
NM_000548.5(TSC2):c.2643del (p.Phe881fs) rs137854030
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter) rs45476100
NM_000548.5(TSC2):c.2649G>A (p.Gln883=) rs2151386276
NM_000548.5(TSC2):c.2652C>T (p.Tyr884=) rs45489200
NM_000548.5(TSC2):c.2655C>G (p.Ile885Met) rs1060504116
NM_000548.5(TSC2):c.2656G>A (p.Val886Met) rs999523698
NM_000548.5(TSC2):c.265T>C (p.Leu89=) rs1336362677
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_2707del (p.Ala889fs) rs397515098
NM_000548.5(TSC2):c.2665G>C (p.Ala889Pro) rs397515054
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.2669_2677del (p.His890_Ile893delinsLeu) rs137854068
NM_000548.5(TSC2):c.2670del (p.His891fs) rs397514900
NM_000548.5(TSC2):c.2677A>G (p.Ile893Val) rs2151387209
NM_000548.5(TSC2):c.2677del (p.Val892_Ile893insTer) rs397515000
NM_000548.5(TSC2):c.2677dup (p.Ile893fs) rs137854276
NM_000548.5(TSC2):c.2682C>G (p.Ala894=) rs45517253
NM_000548.5(TSC2):c.2683A>G (p.Met895Val) rs45470695
NM_000548.5(TSC2):c.2687G>A (p.Trp896Ter) rs45517254
NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter) rs397514913
NM_000548.5(TSC2):c.268C>G (p.Gln90Glu) rs45517099
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.2695A>G (p.Arg899Gly) rs2089322279
NM_000548.5(TSC2):c.2697G>T (p.Arg899Ser) rs45517256
NM_000548.5(TSC2):c.269_272del (p.Gln90fs) rs397515094
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.2700C>T (p.Cys900=) rs45517257
NM_000548.5(TSC2):c.2703C>A (p.Arg901=) rs2151388104
NM_000548.5(TSC2):c.2709dup (p.Phe904fs) rs137854291
NM_000548.5(TSC2):c.2712C>T (p.Phe904=) rs137920189
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.2713del (p.Arg905fs) rs397515007
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.2716A>T (p.Lys906Ter) rs397515243
NM_000548.5(TSC2):c.2717dup (p.Asp907fs) rs137854073
NM_000548.5(TSC2):c.271C>A (p.Pro91Thr) rs1555496979
NM_000548.5(TSC2):c.2721delinsAG (p.Asp907fs) rs397515213
NM_000548.5(TSC2):c.2729del (p.Pro910fs) rs137854067
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys) rs774758044
NM_000548.5(TSC2):c.2733del (p.Phe911fs) rs137854328
NM_000548.5(TSC2):c.2737_2738del (p.Ile912_Thr913insTer) rs397515113
NM_000548.5(TSC2):c.2742+1G>A rs45517262
NM_000548.5(TSC2):c.2742+1G>T rs45517262
NM_000548.5(TSC2):c.2742+5G>A rs397515076
NM_000548.5(TSC2):c.2742G>A (p.Lys914=) rs137854877
NM_000548.5(TSC2):c.2742G>C (p.Lys914Asn) rs137854877
NM_000548.5(TSC2):c.2743-1G>A rs45517263
NM_000548.5(TSC2):c.2743-1G>C rs45517263
NM_000548.5(TSC2):c.2743-2A>C rs45445303
NM_000548.5(TSC2):c.2743-2A>G rs45445303
NM_000548.5(TSC2):c.2743-4_2743dup rs137854093
NM_000548.5(TSC2):c.2743-66A>G rs45517266
NM_000548.5(TSC2):c.2743-9C>G rs397515319
NM_000548.5(TSC2):c.2746C>T (p.Leu916=) rs137854274
NM_000548.5(TSC2):c.2747T>G (p.Leu916Arg) rs137854405
NM_000548.5(TSC2):c.274del (p.Glu92fs) rs137854422
NM_000548.5(TSC2):c.2753C>G (p.Ser918Cys) rs397515165
NM_000548.5(TSC2):c.2760C>T (p.Val920=) rs149490538
NM_000548.5(TSC2):c.2765del (p.Leu922fs) rs137854112
NM_000548.5(TSC2):c.2765dup (p.Leu922fs) rs137854112
NM_000548.5(TSC2):c.2767_2769delinsCC (p.Ser923fs) rs397515179
NM_000548.5(TSC2):c.2768C>T (p.Ser923Phe) rs587778731
NM_000548.5(TSC2):c.2771T>C (p.Phe924Ser) rs2543929873
NM_000548.5(TSC2):c.2772T>C (p.Phe924=) rs2089406887
NM_000548.5(TSC2):c.2772T>G (p.Phe924Leu) rs2089406887
NM_000548.5(TSC2):c.2774_2777delinsTC (p.Asp925fs) rs137854202
NM_000548.5(TSC2):c.2779A>C (p.Thr927Pro) rs1420034406
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.2784del (p.Glu929fs) rs34245038
NM_000548.5(TSC2):c.2784dup (p.Glu929fs) rs34245038
NM_000548.5(TSC2):c.2785G>T (p.Glu929Ter) rs45517268
NM_000548.5(TSC2):c.2785del (p.Glu929fs) rs137854098
NM_000548.5(TSC2):c.2787G>A (p.Glu929=) rs968144525
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln) rs1222477746
NM_000548.5(TSC2):c.2790G>A (p.Lys930=) rs2151395271
NM_000548.5(TSC2):c.2795G>A (p.Ser932Asn) rs397515138
NM_000548.5(TSC2):c.2798T>G (p.Phe933Cys) rs45517269
NM_000548.5(TSC2):c.279dup (p.Pro94fs) rs137854409
NM_000548.5(TSC2):c.2806C>T (p.Arg936Trp) rs2151395746
NM_000548.5(TSC2):c.280C>A (p.Pro94Thr) rs1051616
NM_000548.5(TSC2):c.2814_2815del (p.Leu940fs) rs137853975
NM_000548.5(TSC2):c.281del (p.Pro94fs) rs137854179
NM_000548.5(TSC2):c.2824G>A (p.Glu942Lys) rs45517270
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter) rs45517270
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg) rs886051791
NM_000548.5(TSC2):c.2837+1G>T rs45517271
NM_000548.5(TSC2):c.2838-122G>A rs1567489890
NM_000548.5(TSC2):c.2838-4A>C rs45517272
NM_000548.5(TSC2):c.2838-5G>A rs876660419
NM_000548.5(TSC2):c.2838-7C>A rs752762518
NM_000548.5(TSC2):c.2839C>T (p.Leu947=) rs2089574802
NM_000548.5(TSC2):c.2848G>C (p.Ala950Pro) rs886051792
NM_000548.5(TSC2):c.284T>C (p.Leu95Pro) rs2085369170
NM_000548.5(TSC2):c.2853A>T (p.Arg951Ser) rs45517273
NM_000548.5(TSC2):c.2859C>G (p.Pro953=) rs397514968
NM_000548.5(TSC2):c.2862A>G (p.Lys954=) rs45517274
NM_000548.5(TSC2):c.2868C>T (p.Gly956=) rs141573736
NM_000548.5(TSC2):c.286G>A (p.Glu96Lys) rs2151027724
NM_000548.5(TSC2):c.2910dup (p.Ala971fs)
NM_000548.5(TSC2):c.2916C>T (p.Ala972=) rs751474097
NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro) rs779832805
NM_000548.5(TSC2):c.2942G>T (p.Ser981Ile)
NM_000548.5(TSC2):c.2950G>C (p.Glu984Gln) rs397515156
NM_000548.5(TSC2):c.2966+1G>A rs2089600815
NM_000548.5(TSC2):c.2966+92_2966+94dup rs397515128
NM_000548.5(TSC2):c.2967-15G>C rs375423568
NM_000548.5(TSC2):c.2967-1G>T rs1596382055
NM_000548.5(TSC2):c.2968_2971dup (p.Ile991fs) rs397515185
NM_000548.5(TSC2):c.2974C>T (p.Gln992Ter) rs45438592
NM_000548.5(TSC2):c.2975_2978del (p.Gln992fs) rs137854231
NM_000548.5(TSC2):c.2977_3025del (p.Thr993fs) rs137854287
NM_000548.5(TSC2):c.297del (p.His99fs) rs397515239
NM_000548.5(TSC2):c.2983_2990dup (p.Ala998fs) rs137854324
NM_000548.5(TSC2):c.2985C>T (p.Leu995=) rs786203324
NM_000548.5(TSC2):c.2988del (p.Ser997fs) rs397515269
NM_000548.5(TSC2):c.2990G>T (p.Ser997Ile) rs1596382214
NM_000548.5(TSC2):c.2992G>A (p.Ala998Thr) rs1440361406
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser) rs1440361406
NM_000548.5(TSC2):c.2996G>C (p.Ser999Thr) rs149808366
NM_000548.5(TSC2):c.299_300dup (p.Val101fs) rs137854244
NM_000548.5(TSC2):c.3007G>T (p.Ala1003Ser) rs1555510234
NM_000548.5(TSC2):c.3017_3062del (p.Asn1006fs) rs397515107
NM_000548.5(TSC2):c.301G>T (p.Val101Leu) rs878854089
NM_000548.5(TSC2):c.3025G>T (p.Ala1009Ser) rs45517278
NM_000548.5(TSC2):c.3028C>T (p.Gln1010Ter) rs45514100
NM_000548.5(TSC2):c.3030G>C (p.Gln1010His) rs776658284
NM_000548.5(TSC2):c.3037del (p.Asp1013fs) rs137854301
NM_000548.5(TSC2):c.3056A>C (p.His1019Pro) rs1555510317
NM_000548.5(TSC2):c.3056A>G (p.His1019Arg) rs1555510317
NM_000548.5(TSC2):c.3058C>T (p.Leu1020=) rs574318440
NM_000548.5(TSC2):c.3058dup (p.Leu1020fs) rs397515211
NM_000548.5(TSC2):c.3074C>G (p.Thr1025Ser) rs1371092393
NM_000548.5(TSC2):c.3076dup (p.Cys1026fs) rs137854334
NM_000548.5(TSC2):c.3079C>T (p.Leu1027=) rs1596382637
NM_000548.5(TSC2):c.307_315dup (p.Ala103_Leu105dup) rs137854004
NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro) rs45438192
NM_000548.5(TSC2):c.3082G>A (p.Asp1028Asn) rs45517280
NM_000548.5(TSC2):c.3083A>G (p.Asp1028Gly) rs397515255
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3094_3095insTTCCATG (p.Arg1032fs) rs397515231
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3097T>C (p.Tyr1033His) rs137854404
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.309T>G (p.Ala103=) rs45517101
NM_000548.5(TSC2):c.3102C>G (p.Val1034=) rs562998574
NM_000548.5(TSC2):c.3102C>T (p.Val1034=) rs562998574
NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro) rs45517281
NM_000548.5(TSC2):c.310C>G (p.Leu104Val) rs1596259554
NM_000548.5(TSC2):c.3110A>C (p.Asn1037Thr) rs2089806008
NM_000548.5(TSC2):c.3110A>G (p.Asn1037Ser) rs2089806008
NM_000548.5(TSC2):c.3115_3116insTCCA (p.Thr1039fs) rs137853989
NM_000548.5(TSC2):c.3116C>T (p.Thr1039Met) rs1596382895
NM_000548.5(TSC2):c.3125C>A (p.Pro1042Gln) rs745731000
NM_000548.5(TSC2):c.3125C>T (p.Pro1042Leu) rs745731000
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3126G>T (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3128del (p.Lys1043fs) rs137854070
NM_000548.5(TSC2):c.3131+11_3131+28del rs137854115
NM_000548.5(TSC2):c.3131+1G>A rs45506401
NM_000548.5(TSC2):c.3131+2T>C rs397515036
NM_000548.5(TSC2):c.3131G>A (p.Arg1044Lys) rs397515302
NM_000548.5(TSC2):c.3131G>T (p.Arg1044Met) rs397515302
NM_000548.5(TSC2):c.3132-10T>C rs397514894
NM_000548.5(TSC2):c.3132-18A>T rs137854120
NM_000548.5(TSC2):c.3132-1G>A rs45443096
NM_000548.5(TSC2):c.3132-1G>C rs45443096
NM_000548.5(TSC2):c.3132-2A>C rs45517282
NM_000548.5(TSC2):c.3138T>C (p.Pro1046=) rs137854158
NM_000548.5(TSC2):c.3166A>G (p.Arg1056Gly) rs2151437774
NM_000548.5(TSC2):c.3170C>T (p.Thr1057Ile) rs1596383758
NM_000548.5(TSC2):c.3178T>C (p.Trp1060Arg) rs45517285
NM_000548.5(TSC2):c.3181C>A (p.Leu1061Met) rs946673791
NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro) rs397514919
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro) rs397515207
NM_000548.5(TSC2):c.3198dup (p.Val1067fs) rs137854177
NM_000548.5(TSC2):c.319G>A (p.Ala107Thr) rs1403848498
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.3210G>T (p.Thr1070=) rs539927192
NM_000548.5(TSC2):c.3211A>G (p.Thr1071Ala) rs2151439062
NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg) rs45498892
NM_000548.5(TSC2):c.3214del (p.Ser1072fs) rs137854106
NM_000548.5(TSC2):c.3217G>T (p.Val1073Leu) rs749192298
NM_000548.5(TSC2):c.3220_3221delinsC (p.Gly1074fs) rs137854384
NM_000548.5(TSC2):c.3221del (p.Gly1074fs) rs397514962
NM_000548.5(TSC2):c.3223A>C (p.Thr1075Pro) rs768568810
NM_000548.5(TSC2):c.3223_3229dup (p.Thr1077fs) rs397515115
NM_000548.5(TSC2):c.3224C>T (p.Thr1075Ile) rs397515024
NM_000548.5(TSC2):c.3230C>T (p.Thr1077Ile) rs137854279
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.3236C>T (p.Ser1079Leu) rs397515087
NM_000548.5(TSC2):c.3238T>C (p.Leu1080=) rs1596384213
NM_000548.5(TSC2):c.3239del (p.Leu1080fs) rs397515061
NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe) rs371514669
NM_000548.5(TSC2):c.3243A>G (p.Leu1081=) rs1156745816
NM_000548.5(TSC2):c.3254C>A (p.Ser1085Ter) rs45517287
NM_000548.5(TSC2):c.3257_3259del (p.Gly1086del) rs137854302
NM_000548.5(TSC2):c.3259G>A (p.Glu1087Lys) rs1085307762
NM_000548.5(TSC2):c.3259_3261delinsAA (p.Glu1087fs) rs397515044
NM_000548.5(TSC2):c.3259del (p.Glu1087fs) rs137854302
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs) rs137854302
NM_000548.5(TSC2):c.325G>T (p.Val109Leu) rs369932305
NM_000548.5(TSC2):c.3261G>C (p.Glu1087Asp) rs45438093
NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter) rs45517288
NM_000548.5(TSC2):c.3267G>A (p.Gln1089=) rs1555510717
NM_000548.5(TSC2):c.3268T>C (p.Ser1090Pro) rs1060500936
NM_000548.5(TSC2):c.3268_3271dup (p.Gly1091fs) rs137854213
NM_000548.5(TSC2):c.3275C>A (p.Pro1092Gln) rs587781774
NM_000548.5(TSC2):c.3275del (p.Pro1092fs) rs397515096
NM_000548.5(TSC2):c.3277G>C (p.Glu1093Gln) rs1182829976
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu) rs397514887
NM_000548.5(TSC2):c.3284+1G>A rs45517289
NM_000548.5(TSC2):c.3284+1G>C rs45517289
NM_000548.5(TSC2):c.3284+1del rs137853990
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn) rs1555510754
NM_000548.5(TSC2):c.3285-16G>A rs397514886
NM_000548.5(TSC2):c.3285-63A>G rs397515026
NM_000548.5(TSC2):c.3292C>T (p.Pro1098Ser) rs772686090
NM_000548.5(TSC2):c.3293C>G (p.Pro1098Arg) rs773545852
NM_000548.5(TSC2):c.3294del (p.Val1100fs) rs397515048
NM_000548.5(TSC2):c.3295G>C (p.Gly1099Arg) rs776855601
NM_000548.5(TSC2):c.3298G>A (p.Val1100Met) rs1596385749
NM_000548.5(TSC2):c.3298del (p.Val1100fs) rs137854162
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met) rs775584262
NM_000548.5(TSC2):c.3307_3308insC (p.Arg1103fs) rs397515022
NM_000548.5(TSC2):c.330delinsAT (p.Gly111fs) rs137854108
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.3312_3313del (p.Gln1104fs) rs397515183
NM_000548.5(TSC2):c.3314C>T (p.Thr1105Ile) rs946381749
NM_000548.5(TSC2):c.3317A>C (p.Lys1106Thr) rs764113584
NM_000548.5(TSC2):c.331G>T (p.Gly111Trp) rs1266039524
NM_000548.5(TSC2):c.3321G>A (p.Glu1107=) rs1596385920
NM_000548.5(TSC2):c.3323C>T (p.Ala1108Val) rs587781782
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.3326dup (p.Ala1110fs) rs2544067323
NM_000548.5(TSC2):c.3327_3337del (p.Ala1110fs) rs397515013
NM_000548.5(TSC2):c.3329C>G (p.Ala1110Gly) rs1060500923
NM_000548.5(TSC2):c.332G>A (p.Gly111Glu) rs1488640964
NM_000548.5(TSC2):c.3331A>G (p.Lys1111Glu) rs2151445646
NM_000548.5(TSC2):c.3337G>C (p.Glu1113Gln) rs1567500491
NM_000548.5(TSC2):c.3337dup (p.Glu1113fs) rs397515144
NM_000548.5(TSC2):c.3341C>T (p.Ser1114Phe) rs2151446048
NM_000548.5(TSC2):c.3342C>A (p.Ser1114=) rs755871381
NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter) rs137854253
NM_000548.5(TSC2):c.3348_3349insAGCC (p.Gly1117fs) rs137854042
NM_000548.5(TSC2):c.334C>T (p.Gln112Ter) rs397515308
NM_000548.5(TSC2):c.3350_3360del (p.Gly1117fs) rs137854003
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.3356A>G (p.Gln1119Arg) rs1567500641
NM_000548.5(TSC2):c.3359T>A (p.Val1120Glu) rs397514895
NM_000548.5(TSC2):c.336+1G>A rs45517102
NM_000548.5(TSC2):c.336+1_336+2dup rs397515275
NM_000548.5(TSC2):c.336+2T>G rs45505995
NM_000548.5(TSC2):c.336+30G>A rs45503094
NM_000548.5(TSC2):c.336+33G>T rs45517104
NM_000548.5(TSC2):c.3362C>T (p.Ser1121Phe) rs1596386254
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>G rs397515316
NM_000548.5(TSC2):c.337-2A>T rs397515316
NM_000548.5(TSC2):c.337-5T>C rs2548412653
NM_000548.5(TSC2):c.3372C>T (p.Ala1124=) rs1555510963
NM_000548.5(TSC2):c.3373del (p.Arg1125fs) rs137854013
NM_000548.5(TSC2):c.3373dup (p.Arg1125fs) rs137854013
NM_000548.5(TSC2):c.3376dup (p.Asp1126fs) rs397515125
NM_000548.5(TSC2):c.3377_3382dup (p.Asp1126_Arg1127dup) rs1387479871
NM_000548.5(TSC2):c.3381G>A (p.Arg1127=) rs1596386421
NM_000548.5(TSC2):c.3383del (p.Val1128fs) rs137853996
NM_000548.5(TSC2):c.3384_3397+2del rs137854190
NM_000548.5(TSC2):c.3390del (p.Met1131fs) rs137854161
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+2T>G rs45499293
NM_000548.5(TSC2):c.3397+5G>A rs45501492
NM_000548.5(TSC2):c.3397+5G>T rs45501492
NM_000548.5(TSC2):c.3398-10T>C rs137854369
NM_000548.5(TSC2):c.3398-1G>A rs45517293
NM_000548.5(TSC2):c.3398-6C>T rs1555511284
NM_000548.5(TSC2):c.339del (p.Glu114fs) rs137854063
NM_000548.5(TSC2):c.3400G>T (p.Gly1134Cys) rs2089952201
NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs) rs137854314
NM_000548.5(TSC2):c.340G>A (p.Glu114Lys) rs397515021
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.3413G>C (p.Arg1138Pro) rs143168379
NM_000548.5(TSC2):c.3413_3414insC (p.Val1139fs) rs397515244
NM_000548.5(TSC2):c.3425dup (p.Asp1143fs) rs137854313
NM_000548.5(TSC2):c.3430G>T (p.Val1144Leu) rs45517294
NM_000548.5(TSC2):c.343del (p.Arg115fs) rs397514918
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter) rs45477491
NM_000548.5(TSC2):c.344G>C (p.Arg115Pro) rs764529584
NM_000548.5(TSC2):c.3451G>A (p.Gly1151Ser) rs137854022
NM_000548.5(TSC2):c.3452_3455dup (p.Ser1152fs) rs137854078
NM_000548.5(TSC2):c.3454A>G (p.Ser1152Gly) rs772215032
NM_000548.5(TSC2):c.3459C>T (p.Ala1153=) rs1596389837
NM_000548.5(TSC2):c.3460A>G (p.Thr1154Ala) rs1266509754
NM_000548.5(TSC2):c.3460A>T (p.Thr1154Ser) rs1266509754
NM_000548.5(TSC2):c.3464C>T (p.Ser1155Phe) rs1060500948
NM_000548.5(TSC2):c.3467C>T (p.Pro1156Leu) rs144126969
NM_000548.5(TSC2):c.3470G>C (p.Gly1157Ala) rs1477039147
NM_000548.5(TSC2):c.3474A>G (p.Pro1158=) rs764816862
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.5(TSC2):c.3483A>T (p.Ala1161=) rs748326601
NM_000548.5(TSC2):c.3488C>T (p.Ala1163Val) rs1596390123
NM_000548.5(TSC2):c.3490G>T (p.Ala1164Ser) rs776579875
NM_000548.5(TSC2):c.3497del (p.Pro1166fs) rs397515052
NM_000548.5(TSC2):c.3498dup (p.Glu1167Ter) rs137854340
NM_000548.5(TSC2):c.34A>T (p.Lys12Ter) rs45512692
NM_000548.5(TSC2):c.3501G>C (p.Glu1167Asp) rs2151459095
NM_000548.5(TSC2):c.3505G>A (p.Ala1169Thr) rs773900333
NM_000548.5(TSC2):c.3509C>A (p.Ser1170Ter) rs45517296
NM_000548.5(TSC2):c.3509C>G (p.Ser1170Ter) rs45517296
NM_000548.5(TSC2):c.3509C>T (p.Ser1170Leu) rs45517296
NM_000548.5(TSC2):c.3510A>T (p.Ser1170=)
NM_000548.5(TSC2):c.3515G>A (p.Gly1172Asp) rs1567504268
NM_000548.5(TSC2):c.3516C>T (p.Gly1172=) rs1555511474
NM_000548.5(TSC2):c.3519C>T (p.Thr1173=) rs754306983
NM_000548.5(TSC2):c.3520del (p.Arg1174fs) rs137854326
NM_000548.5(TSC2):c.3527C>T (p.Pro1176Leu) rs753110463
NM_000548.5(TSC2):c.352dup (p.Val118fs) rs137853982
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) rs45517297
NM_000548.5(TSC2):c.3535G>T (p.Glu1179Ter) rs45483391
NM_000548.5(TSC2):c.3535_3537del (p.Glu1179del) rs1060500937
NM_000548.5(TSC2):c.3542C>G (p.Thr1181Arg) rs373481458
NM_000548.5(TSC2):c.3546C>T (p.Asn1182=) rs2151460683
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.3557A>C (p.Tyr1186Ser) rs137854421
NM_000548.5(TSC2):c.3557A>T (p.Tyr1186Phe) rs137854421
NM_000548.5(TSC2):c.3559del (p.Val1187fs) rs137854163
NM_000548.5(TSC2):c.3565C>T (p.Leu1189=) rs796053476
NM_000548.5(TSC2):c.3565dup (p.Leu1189fs) rs137854121
NM_000548.5(TSC2):c.3574C>T (p.Gln1192Ter) rs45517298
NM_000548.5(TSC2):c.3574del (p.Gln1192fs) rs137854014
NM_000548.5(TSC2):c.3578del (p.Gly1193fs) rs137854262
NM_000548.5(TSC2):c.357C>G (p.Leu119=) rs1168763677
NM_000548.5(TSC2):c.357del (p.Arg120fs) rs137854258
NM_000548.5(TSC2):c.3581G>A (p.Trp1194Ter) rs397515168
NM_000548.5(TSC2):c.3596T>G (p.Val1199Gly) rs397515088
NM_000548.5(TSC2):c.3599G>C (p.Arg1200Pro) rs397515225
NM_000548.5(TSC2):c.3602G>A (p.Arg1201Lys) rs1596390955
NM_000548.5(TSC2):c.3605C>A (p.Pro1202His) rs397515060
NM_000548.5(TSC2):c.3605C>G (p.Pro1202Arg) rs397515060
NM_000548.5(TSC2):c.3607A>C (p.Thr1203Pro) rs397515265
NM_000548.5(TSC2):c.3608C>A (p.Thr1203Lys) rs397515030
NM_000548.5(TSC2):c.3610+1G>A rs45517299
NM_000548.5(TSC2):c.3610+4C>G rs201978396
NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg) rs1555511663
NM_000548.5(TSC2):c.3611-11C>G rs375617364
NM_000548.5(TSC2):c.3611-1G>A
NM_000548.5(TSC2):c.3611-28C>A rs45517303
NM_000548.5(TSC2):c.3611-2A>T rs397515169
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.3620G>T (p.Ser1207Ile) rs397515313
NM_000548.5(TSC2):c.3620_3624del (p.Ser1207fs) rs397514952
NM_000548.5(TSC2):c.3622T>C (p.Trp1208Arg) rs45482795
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly) rs45482795
NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter) rs397514979
NM_000548.5(TSC2):c.3624G>T (p.Trp1208Cys) rs796053496
NM_000548.5(TSC2):c.3637del (p.Glu1213fs) rs397515010
NM_000548.5(TSC2):c.3643_3644insTG (p.Pro1215fs) rs137854224
NM_000548.5(TSC2):c.3645G>A (p.Pro1215=) rs758114962
NM_000548.5(TSC2):c.364C>A (p.Leu122Ile) rs1175373447
NM_000548.5(TSC2):c.3650G>A (p.Ser1217Asn) rs2151481330
NM_000548.5(TSC2):c.3653_3660del (p.Pro1218fs) rs137854389
NM_000548.5(TSC2):c.3653_3670del (p.Pro1218_Asn1224delinsHis) rs397514904
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.366CTT[1] (p.Phe124del) rs1342475885
NM_000548.5(TSC2):c.3677T>C (p.Met1226Thr) rs2090157003
NM_000548.5(TSC2):c.3682C>A (p.Leu1228Met) rs938124834
NM_000548.5(TSC2):c.3682C>G (p.Leu1228Val)
NM_000548.5(TSC2):c.3684dup (p.Gln1229fs) rs2544156047
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter) rs45517306
NM_000548.5(TSC2):c.3686_3701del (p.Gln1229fs) rs137854129
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.3695C>G (p.Ser1232Cys) rs886039876
NM_000548.5(TSC2):c.3695del (p.Ser1232fs) rs137854316
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter) rs137854210
NM_000548.5(TSC2):c.3699dup (p.Ala1234fs) rs397515193
NM_000548.5(TSC2):c.36G>A (p.Lys12=) rs1596233951
NM_000548.5(TSC2):c.3703C>T (p.Leu1235Phe) rs137854303
NM_000548.5(TSC2):c.3705del (p.Met1236fs) rs137854325
NM_000548.5(TSC2):c.3707T>C (p.Met1236Thr) rs1567510644
NM_000548.5(TSC2):c.3712del (p.Ala1238fs) rs397515161
NM_000548.5(TSC2):c.3713C>T (p.Ala1238Val) rs2151482691
NM_000548.5(TSC2):c.3729G>A (p.Glu1243=) rs2151483009
NM_000548.5(TSC2):c.372T>C (p.Phe124=) rs753922923
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.3760T>C (p.Ser1254Pro) rs2544160694
NM_000548.5(TSC2):c.3762_3783del (p.Val1255fs) rs137854194
NM_000548.5(TSC2):c.3769del (p.Ala1257fs) rs137854180
NM_000548.5(TSC2):c.3773C>T (p.Ala1258Val) rs1060500958
NM_000548.5(TSC2):c.3776G>A (p.Ser1259Asn) rs1596400661
NM_000548.5(TSC2):c.3778A>G (p.Thr1260Ala) rs1310948800
NM_000548.5(TSC2):c.3782C>A (p.Ala1261Asp) rs45517310
NM_000548.5(TSC2):c.3786A>C (p.Lys1262Asn)
NM_000548.5(TSC2):c.3786A>G (p.Lys1262=) rs752513898
NM_000548.5(TSC2):c.3787C>A (p.Pro1263Thr) rs1233661099
NM_000548.5(TSC2):c.3791del (p.Pro1264fs) rs137854001
NM_000548.5(TSC2):c.37G>A (p.Glu13Lys) rs1555494586
NM_000548.5(TSC2):c.3800C>T (p.Pro1267Leu) rs1245115663
NM_000548.5(TSC2):c.3814+1G>A rs397514902
NM_000548.5(TSC2):c.3814+1G>C rs397514902
NM_000548.5(TSC2):c.3814+5G>A rs1555512582
NM_000548.5(TSC2):c.3815-14G>A rs2151492084
NM_000548.5(TSC2):c.3815-28C>G rs45517313
NM_000548.5(TSC2):c.3830C>T (p.Ser1277Phe) rs1330915229
NM_000548.5(TSC2):c.3832C>G (p.Leu1278Val) rs374146919
NM_000548.5(TSC2):c.3835T>C (p.Tyr1279His) rs1449727037
NM_000548.5(TSC2):c.3837C>G (p.Tyr1279Ter) rs1555512861
NM_000548.5(TSC2):c.3844A>G (p.Ser1282Gly) rs45446700
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.3853G>A (p.Gly1285Arg) rs2090264891
NM_000548.5(TSC2):c.385del (p.Asp129fs) rs137854059
NM_000548.5(TSC2):c.3865A>G (p.Arg1289Gly) rs2090265922
NM_000548.5(TSC2):c.3867G>A (p.Arg1289=) rs1008733639
NM_000548.5(TSC2):c.3876C>T (p.Ser1292=) rs1173548095
NM_000548.5(TSC2):c.3879G>A (p.Trp1293Ter)
NM_000548.5(TSC2):c.387T>A (p.Asp129Glu) rs1202650869
NM_000548.5(TSC2):c.3883+15_3883+16del rs137854278
NM_000548.5(TSC2):c.3883+1G>C rs2090268989
NM_000548.5(TSC2):c.3883+76C>A rs137854188
NM_000548.5(TSC2):c.3884-12G>A rs1282062597
NM_000548.5(TSC2):c.3884-17C>G rs45517317
NM_000548.5(TSC2):c.3884-1G>A rs137854079
NM_000548.5(TSC2):c.3884-1G>C rs137854079
NM_000548.5(TSC2):c.3884-2A>T rs137854053
NM_000548.5(TSC2):c.3884-51C>A rs45505099
NM_000548.5(TSC2):c.3884-51C>G rs45505099
NM_000548.5(TSC2):c.3884-55A>T rs45517318
NM_000548.5(TSC2):c.3884-8C>T rs397515219
NM_000548.5(TSC2):c.3887C>T (p.Ser1296Phe) rs1027773484
NM_000548.5(TSC2):c.388del (p.Tyr130fs) rs397514975
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.3897C>T (p.Val1299=) rs2151510391
NM_000548.5(TSC2):c.3898A>G (p.Met1300Val) rs1596411880
NM_000548.5(TSC2):c.3906G>A (p.Glu1302=) rs2151510679
NM_000548.5(TSC2):c.3913C>A (p.Pro1305Thr) rs45452994
NM_000548.5(TSC2):c.3913C>T (p.Pro1305Ser) rs45452994
NM_000548.5(TSC2):c.3914C>A (p.Pro1305Gln) rs45517320
NM_000548.5(TSC2):c.3915G>C (p.Pro1305=) rs11551373
NM_000548.5(TSC2):c.391C>T (p.Pro131Ser) rs777398393
NM_000548.5(TSC2):c.3924dup (p.Pro1309fs) rs137854142
NM_000548.5(TSC2):c.3927T>C (p.Pro1309=) rs1488161104
NM_000548.5(TSC2):c.3935dup (p.Glu1313fs) rs397515212
NM_000548.5(TSC2):c.3936G>A (p.Val1312=) rs876659932
NM_000548.5(TSC2):c.3937G>T (p.Glu1313Ter) rs45517321
NM_000548.5(TSC2):c.3943C>G (p.Pro1315Ala) rs397514916
NM_000548.5(TSC2):c.3943C>T (p.Pro1315Ser) rs397514916
NM_000548.5(TSC2):c.3943_3944del (p.Pro1315fs) rs137854011
NM_000548.5(TSC2):c.3945A>G (p.Pro1315=) rs1811018177
NM_000548.5(TSC2):c.3952_3961del (p.Glu1318fs) rs397515260
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val) rs45517322
NM_000548.5(TSC2):c.395_396del (p.Pro131_Ser132insTer) rs397515263
NM_000548.5(TSC2):c.3961G>T (p.Glu1321Ter) rs397514910
NM_000548.5(TSC2):c.3962A>C (p.Glu1321Ala) rs587778736
NM_000548.5(TSC2):c.3963G>A (p.Glu1321=) rs587778737
NM_000548.5(TSC2):c.397A>G (p.Asn133Asp)
NM_000548.5(TSC2):c.3982A>G (p.Arg1328Gly) rs778389399
NM_000548.5(TSC2):c.3984del (p.Arg1328fs) rs137854255
NM_000548.5(TSC2):c.3990G>T (p.Thr1330=) rs369943684
NM_000548.5(TSC2):c.3991G>A (p.Asp1331Asn) rs770396146
NM_000548.5(TSC2):c.3991G>C (p.Asp1331His) rs770396146
NM_000548.5(TSC2):c.3991del (p.Asp1331fs) rs397515058
NM_000548.5(TSC2):c.3996C>A (p.Ala1332=) rs1421997373
NM_000548.5(TSC2):c.3997dup (p.Tyr1333fs) rs137854403
NM_000548.5(TSC2):c.3998A>G (p.Tyr1333Cys) rs878854099
NM_000548.5(TSC2):c.3999del (p.Ala1332_Tyr1333insTer) rs397515232
NM_000548.5(TSC2):c.3G>A (p.Met1Ile) rs397515208
NM_000548.5(TSC2):c.4005+1G>T rs45517324
NM_000548.5(TSC2):c.4005+2T>A rs137854254
NM_000548.5(TSC2):c.4006-2A>G rs397514941
NM_000548.5(TSC2):c.4006-5T>C rs1596415173
NM_000548.5(TSC2):c.4008_4010del (p.Ser1338del) rs1567520255
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.4034A>G (p.Lys1345Arg)
NM_000548.5(TSC2):c.4037C>A (p.Ser1346Ter) rs45517326
NM_000548.5(TSC2):c.403dup (p.Asp135fs) rs137854166
NM_000548.5(TSC2):c.4041C>T (p.Leu1347=) rs1060504109
NM_000548.5(TSC2):c.4042C>T (p.His1348Tyr) rs2151521367
NM_000548.5(TSC2):c.404_407dup (p.His137fs) rs137854381
NM_000548.5(TSC2):c.4050G>A (p.Glu1350=) rs2090485089
NM_000548.5(TSC2):c.4051G>A (p.Glu1351Lys) rs878854101
NM_000548.5(TSC2):c.4057G>T (p.Val1353Phe) rs373982157
NM_000548.5(TSC2):c.4061del (p.Gly1354fs) rs397515129
NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly) rs1555513911
NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val) rs747104864
NM_000548.5(TSC2):c.4067del (p.Gly1356fs) rs137854330
NM_000548.5(TSC2):c.4067dup (p.Ile1357fs) rs137854330
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr) rs878854103
NM_000548.5(TSC2):c.4073C>T (p.Pro1358Leu) rs397515130
NM_000548.5(TSC2):c.4078G>T (p.Glu1360Ter) rs397514997
NM_000548.5(TSC2):c.4082G>C (p.Arg1361Pro) rs762798984
NM_000548.5(TSC2):c.4083_4087del (p.Val1362fs) rs137853978
NM_000548.5(TSC2):c.4085T>A (p.Val1362Asp) rs397514947
NM_000548.5(TSC2):c.4085T>G (p.Val1362Gly)
NM_000548.5(TSC2):c.4088_4095dup (p.Glu1366fs) rs397515126
NM_000548.5(TSC2):c.4089CTC[1] (p.Ser1365del) rs755101865
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter) rs45517327
NM_000548.5(TSC2):c.4102G>A (p.Gly1368Ser) rs1596415966
NM_000548.5(TSC2):c.4105C>A (p.Arg1369=) rs45517328
NM_000548.5(TSC2):c.4107G>A (p.Arg1369=) rs201688447
NM_000548.5(TSC2):c.410A>G (p.His137Arg) rs45517107
NM_000548.5(TSC2):c.4110C>T (p.Pro1370=) rs771107874
NM_000548.5(TSC2):c.4114G>T (p.Val1372Leu) rs2090494113
NM_000548.5(TSC2):c.4115_4116del (p.Val1372fs) rs137854368
NM_000548.5(TSC2):c.4120C>T (p.Leu1374Phe) rs2544261169
NM_000548.5(TSC2):c.4122C>G (p.Leu1374=) rs2544261338
NM_000548.5(TSC2):c.4123_4124del (p.Ser1375fs) rs137854289
NM_000548.5(TSC2):c.4128C>T (p.Phe1376=) rs1060504086
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter) rs45517329
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys) rs1173061992
NM_000548.5(TSC2):c.4130A>G (p.Gln1377Arg) rs2151524153
NM_000548.5(TSC2):c.4134C>G (p.Pro1378=) rs1060504081
NM_000548.5(TSC2):c.4136C>A (p.Ser1379Ter) rs137854065
NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter) rs137854045
NM_000548.5(TSC2):c.4142C>T (p.Pro1381Leu) rs397515264
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.4152G>A (p.Lys1384=) rs2151525029
NM_000548.5(TSC2):c.415del (p.Arg139fs) rs137854010
NM_000548.5(TSC2):c.4161C>T (p.Ser1387=)
NM_000548.5(TSC2):c.4163C>A (p.Ser1388Tyr) rs764039393
NM_000548.5(TSC2):c.4164_4165del (p.Pro1389fs) rs137854043
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.4174del (p.Gln1392fs) rs137854051
NM_000548.5(TSC2):c.4176_4177del (p.Gln1392fs) rs137854270
NM_000548.5(TSC2):c.4180C>G (p.Leu1394Val) rs911307922
NM_000548.5(TSC2):c.4180_4181del (p.Leu1394fs) rs137854363
NM_000548.5(TSC2):c.4183_4195del (p.Gln1395fs) rs397514935
NM_000548.5(TSC2):c.4192C>T (p.Leu1398Phe) rs1060500928
NM_000548.5(TSC2):c.4201C>G (p.Pro1401Ala) rs778147657
NM_000548.5(TSC2):c.4207del (p.Asp1403fs) rs137854273
NM_000548.5(TSC2):c.4207dup (p.Asp1403fs) rs137854273
NM_000548.5(TSC2):c.4209C>G (p.Asp1403Glu) rs1257841799
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn) rs147719291
NM_000548.5(TSC2):c.4219G>C (p.Val1407Leu) rs45517332
NM_000548.5(TSC2):c.4223del (p.Gly1408fs) rs137854427
NM_000548.5(TSC2):c.4225C>G (p.Arg1409Gly) rs45517333
NM_000548.5(TSC2):c.4233C>T (p.Ser1411=) rs1060504090
NM_000548.5(TSC2):c.4234C>T (p.Pro1412Ser) rs1480313663
NM_000548.5(TSC2):c.4239G>A (p.Glu1413=) rs907082165
NM_000548.5(TSC2):c.4241_4275del (p.Val1414fs) rs137854296
NM_000548.5(TSC2):c.4244dup (p.Ala1416fs) rs137854243
NM_000548.5(TSC2):c.4245G>C (p.Lys1415Asn) rs1431882138
NM_000548.5(TSC2):c.4248C>A (p.Ala1416=) rs1393358018
NM_000548.5(TSC2):c.4249del (p.Arg1417fs) rs137854055
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter) rs45437193
NM_000548.5(TSC2):c.4255del (p.Gln1419fs) rs137854137
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs) rs137854132
NM_000548.5(TSC2):c.4260_4261del (p.Gly1421fs) rs397515271
NM_000548.5(TSC2):c.4266_4272del (p.Leu1423fs) rs397515069
NM_000548.5(TSC2):c.4270G>C (p.Asp1424His) rs1216613310
NM_000548.5(TSC2):c.4273_4337del (p.Gly1425fs) rs1555514235
NM_000548.5(TSC2):c.4276G>T (p.Glu1426Ter) rs45449094
NM_000548.5(TSC2):c.4279del (p.Ser1427fs) rs137854113
NM_000548.5(TSC2):c.4280G>C (p.Ser1427Thr) rs397515250
NM_000548.5(TSC2):c.4283del (p.Ala1428fs) rs397515233
NM_000548.5(TSC2):c.4289G>A (p.Trp1430Ter) rs45507198
NM_000548.5(TSC2):c.428T>A (p.Phe143Tyr) rs2151043120
NM_000548.5(TSC2):c.4290G>A (p.Trp1430Ter) rs45517334
NM_000548.5(TSC2):c.4292C>G (p.Ser1431Trp) rs375785710
NM_000548.5(TSC2):c.4298C>A (p.Ser1433Ter) rs45517335
NM_000548.5(TSC2):c.4308C>T (p.Asp1436=) rs45517336
NM_000548.5(TSC2):c.4309A>T (p.Ser1437Cys) rs1440449585
NM_000548.5(TSC2):c.4309_4312del (p.Ser1437fs) rs137854415
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp) rs778925833
NM_000548.5(TSC2):c.4316del (p.Gly1439fs) rs137853988
NM_000548.5(TSC2):c.4316dup (p.Gln1440fs) rs137853988
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) rs45517337
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser) rs201710642
NM_000548.5(TSC2):c.4323dup (p.Glu1442fs) rs137854327
NM_000548.5(TSC2):c.4324del (p.Glu1442fs) rs397515188
NM_000548.5(TSC2):c.4325A>T (p.Glu1442Val) rs1204349917
NM_000548.5(TSC2):c.4330C>T (p.Pro1444Ser) rs1459518095
NM_000548.5(TSC2):c.4337C>T (p.Pro1446Leu) rs2090523005
NM_000548.5(TSC2):c.4341C>T (p.Ser1447=) rs1060504117
NM_000548.5(TSC2):c.4344C>T (p.Ser1448=) rs2090523818
NM_000548.5(TSC2):c.4349C>A (p.Pro1450His) rs45517338
NM_000548.5(TSC2):c.4350C>G (p.Pro1450=) rs767996683
NM_000548.5(TSC2):c.4351C>A (p.Arg1451Ser) rs369553241
NM_000548.5(TSC2):c.4351del (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.4352dup (p.Ser1452fs) rs397515175
NM_000548.5(TSC2):c.4355C>A (p.Ser1452Ter) rs45517339
NM_000548.5(TSC2):c.435C>T (p.Ala145=) rs762200040
NM_000548.5(TSC2):c.4360A>G (p.Ser1454Gly) rs137854366
NM_000548.5(TSC2):c.4361G>T (p.Ser1454Ile) rs758233186
NM_000548.5(TSC2):c.4366C>T (p.Leu1456Phe) rs1199848222
NM_000548.5(TSC2):c.4371G>A (p.Arg1457=) rs1596417989
NM_000548.5(TSC2):c.4371dup (p.Pro1458fs) rs137854046
NM_000548.5(TSC2):c.4374_4375insT (p.Arg1459fs) rs137854038
NM_000548.5(TSC2):c.4375del (p.Arg1459fs) rs397514959
NM_000548.5(TSC2):c.4378G>A (p.Gly1460Ser) rs1238109196
NM_000548.5(TSC2):c.437T>G (p.Leu146Arg) rs397514996
NM_000548.5(TSC2):c.4383C>G (p.Tyr1461Ter) rs397514977
NM_000548.5(TSC2):c.4397C>A (p.Ser1466Ter) rs45517341
NM_000548.5(TSC2):c.4398G>A (p.Ser1466=) rs376086638
NM_000548.5(TSC2):c.4399dup (p.Ala1467fs) rs397515065
NM_000548.5(TSC2):c.4401_4402insT (p.Pro1468fs) rs397515004
NM_000548.5(TSC2):c.4405T>G (p.Ser1469Ala) rs907136617
NM_000548.5(TSC2):c.4406C>A (p.Ser1469Ter) rs45517342
NM_000548.5(TSC2):c.4409G>A (p.Arg1470His) rs1060500969
NM_000548.5(TSC2):c.4409dup (p.Arg1471fs) rs397515041
NM_000548.5(TSC2):c.440C>T (p.Thr147Ile) rs1555497690
NM_000548.5(TSC2):c.440_441del (p.Thr147fs) rs137854292
NM_000548.5(TSC2):c.4416C>T (p.Gly1472=) rs2090534289
NM_000548.5(TSC2):c.4417A>C (p.Lys1473Gln) rs397515136
NM_000548.5(TSC2):c.4420A>G (p.Arg1474Gly) rs766719443
NM_000548.5(TSC2):c.4422_4423del (p.Arg1474fs) rs137854307
NM_000548.5(TSC2):c.4424_4427dup (p.Glu1476fs) rs137854035
NM_000548.5(TSC2):c.4424_4428del (p.Val1475fs) rs137854293
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His) rs45517343
NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr) rs777529733
NM_000548.5(TSC2):c.4438_4439insA (p.Leu1480fs) rs397514963
NM_000548.5(TSC2):c.4439T>A (p.Leu1480Ter) rs45446594
NM_000548.5(TSC2):c.4442dup (p.Ser1482fs) rs137854312
NM_000548.5(TSC2):c.4450_4451del (p.Ala1484fs) rs137854387
NM_000548.5(TSC2):c.4455A>G (p.Thr1485=) rs1555514579
NM_000548.5(TSC2):c.4460C>T (p.Ser1487Phe) rs766916450
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.4468G>A (p.Glu1490Lys) rs2090542133
NM_000548.5(TSC2):c.4472_4474delinsTT (p.Lys1491fs) rs137854350
NM_000548.5(TSC2):c.4473A>G (p.Lys1491=) rs1266546987
NM_000548.5(TSC2):c.4473dup (p.Val1492fs) rs397515023
NM_000548.5(TSC2):c.4487A>T (p.Asn1496Ile) rs2151538221
NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr) rs45517344
NM_000548.5(TSC2):c.4489C>T (p.Pro1497Ser) rs45517344
NM_000548.5(TSC2):c.4490C>G (p.Pro1497Arg) rs45497997
NM_000548.5(TSC2):c.4493+15T>G rs2090547818
NM_000548.5(TSC2):c.4493+1del rs397514971
NM_000548.5(TSC2):c.4493+3_4493+6dup rs2544292299
NM_000548.5(TSC2):c.4493+87del rs397514932
NM_000548.5(TSC2):c.4493G>A (p.Ser1498Asn) rs137854879
NM_000548.5(TSC2):c.4493G>C (p.Ser1498Thr) rs137854879
NM_000548.5(TSC2):c.4493_4494insC (p.Val1500fs) rs397515278
NM_000548.5(TSC2):c.4494-1G>A rs45517346
NM_000548.5(TSC2):c.4494-1G>C rs45517346
NM_000548.5(TSC2):c.4494-2A>C rs397514990
NM_000548.5(TSC2):c.4494-3_4494-2del rs397514950
NM_000548.5(TSC2):c.4496T>C (p.Phe1499Ser) rs1596422033
NM_000548.5(TSC2):c.4496dup (p.Val1500fs) rs397515194
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met) rs397515167
NM_000548.5(TSC2):c.4498G>C (p.Val1500Leu) rs397515167
NM_000548.5(TSC2):c.4499T>C (p.Val1500Ala) rs45517347
NM_000548.5(TSC2):c.4499T>G (p.Val1500Gly) rs45517347
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.4509G>T (p.Gln1503His) rs45517349
NM_000548.5(TSC2):c.4511T>A (p.Leu1504His) rs45501793
NM_000548.5(TSC2):c.4512C>G (p.Leu1504=) rs771595886
NM_000548.5(TSC2):c.4515C>A (p.Tyr1505Ter) rs45471791
NM_000548.5(TSC2):c.4515C>G (p.Tyr1505Ter) rs45471791
NM_000548.5(TSC2):c.4516del (p.His1506fs) rs137854017
NM_000548.5(TSC2):c.451A>T (p.Arg151Ter) rs137854199
NM_000548.5(TSC2):c.4520C>A (p.Ser1507Tyr) rs746246149
NM_000548.5(TSC2):c.4522C>T (p.Pro1508Ser) rs2090582590
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.4526T>C (p.Phe1509Ser) rs2544305439
NM_000548.5(TSC2):c.4532G>A (p.Gly1511Asp) rs2151544129
NM_000548.5(TSC2):c.4537del (p.Glu1513fs) rs137854028
NM_000548.5(TSC2):c.4538A>G (p.Glu1513Gly) rs1596422775
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.4557G>T (p.Leu1519=) rs1260508226
NM_000548.5(TSC2):c.4560G>T (p.Leu1520=) rs1596423200
NM_000548.5(TSC2):c.4565A>T (p.Asn1522Ile) rs144062721
NM_000548.5(TSC2):c.4568del (p.Glu1523fs) rs137854411
NM_000548.5(TSC2):c.4569+46C>T rs45482793
NM_000548.5(TSC2):c.4569+47G>A rs45517351
NM_000548.5(TSC2):c.4569+50T>A rs45482792
NM_000548.5(TSC2):c.4569+80G>A rs397515072
NM_000548.5(TSC2):c.4570-12T>A rs137854256
NM_000548.5(TSC2):c.4570-13C>G rs370549253
NM_000548.5(TSC2):c.4570-21_4570-11dup rs137854040
NM_000548.5(TSC2):c.4570-80A>G rs397515074
NM_000548.5(TSC2):c.4570-9G>A rs1323293907
NM_000548.5(TSC2):c.4570_4598dup (p.Leu1534fs) rs137854150
NM_000548.5(TSC2):c.4571C>T (p.Ser1524Leu) 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.4574A>G (p.Gln1525Arg) rs1596426462
NM_000548.5(TSC2):c.4576_4582del (p.Phe1527fs) rs137854407
NM_000548.5(TSC2):c.4578C>A (p.Ser1526=) rs771098638
NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter) rs137854329
NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln) rs769834772
NM_000548.5(TSC2):c.4586G>T (p.Arg1529Leu) rs769834772
NM_000548.5(TSC2):c.4589C>T (p.Ser1530Leu) rs1567528487
NM_000548.5(TSC2):c.4591del (p.Val1531fs) rs137854282
NM_000548.5(TSC2):c.45_51del (p.Lys16fs) rs397514958
NM_000548.5(TSC2):c.45del (p.Phe15fs) rs397515020
NM_000548.5(TSC2):c.4601T>A (p.Leu1534His) rs137854374
NM_000548.5(TSC2):c.4602C>G (p.Leu1534=) rs368534883
NM_000548.5(TSC2):c.4603G>T (p.Asp1535Tyr) rs45517353
NM_000548.5(TSC2):c.4603_4605del (p.Asp1535del) rs137854401
NM_000548.5(TSC2):c.4604A>C (p.Asp1535Ala) rs397515160
NM_000548.5(TSC2):c.4604A>T (p.Asp1535Val) rs397515160
NM_000548.5(TSC2):c.4606C>T (p.Gln1536Ter) rs45495796
NM_000548.5(TSC2):c.4613C>A (p.Pro1538Gln) rs753060862
NM_000548.5(TSC2):c.4613C>T (p.Pro1538Leu) rs753060862
NM_000548.5(TSC2):c.4613dup (p.Ser1539fs) rs2544324324
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.4621del (p.Asp1541fs) rs397515005
NM_000548.5(TSC2):c.4629C>G (p.His1543Gln) rs751873212
NM_000548.5(TSC2):c.4630_4638delinsCGTCGTGG (p.Lys1544fs) rs137854308
NM_000548.5(TSC2):c.4640T>G (p.Val1547Gly) rs397514988
NM_000548.5(TSC2):c.4641C>G (p.Val1547=) rs1060504087
NM_000548.5(TSC2):c.4642del (p.Leu1548fs) rs137854083
NM_000548.5(TSC2):c.4643T>C (p.Leu1548Pro) rs397515070
NM_000548.5(TSC2):c.4645T>A (p.Tyr1549Asn) rs45488595
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys) rs45517355
NM_000548.5(TSC2):c.4646del (p.Tyr1549fs) rs137854424
NM_000548.5(TSC2):c.4647T>A (p.Tyr1549Ter) rs397515028
NM_000548.5(TSC2):c.464A>G (p.Tyr155Cys) rs755177576
NM_000548.5(TSC2):c.4654G>T (p.Glu1552Ter) rs397514942
NM_000548.5(TSC2):c.4654_4655dup (p.Gly1553fs) rs137854111
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del) rs137854146
NM_000548.5(TSC2):c.4659C>T (p.Gly1553=) rs202212109
NM_000548.5(TSC2):c.465C>G (p.Tyr155Ter) rs45444196
NM_000548.5(TSC2):c.4661A>C (p.Gln1554Pro) rs45473296
NM_000548.5(TSC2):c.4662+1G>A rs45514095
NM_000548.5(TSC2):c.4662+41G>C rs45482694
NM_000548.5(TSC2):c.4662G>A (p.Gln1554=) rs137854880
NM_000548.5(TSC2):c.4662G>C (p.Gln1554His) rs137854880
NM_000548.5(TSC2):c.4662G>T (p.Gln1554His) rs137854880
NM_000548.5(TSC2):c.4663-11_4663-5del rs760527750
NM_000548.5(TSC2):c.4663-17C>G rs137854192
NM_000548.5(TSC2):c.4663-1G>A rs45517358
NM_000548.5(TSC2):c.4663-1G>C rs45517358
NM_000548.5(TSC2):c.4663-3C>G rs397514930
NM_000548.5(TSC2):c.4663-4del rs2544365857
NM_000548.5(TSC2):c.4665dup (p.Asn1556fs) rs397515283
NM_000548.5(TSC2):c.4667del (p.Asn1556fs) rs137854416
NM_000548.5(TSC2):c.4671C>G (p.Ser1557Arg) rs151140709
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.4672_4684dup (p.Leu1562fs) rs397515051
NM_000548.5(TSC2):c.4677C>G (p.Leu1559=) rs45517361
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr) rs777539610
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4691A>G (p.Asn1564Ser) rs876659806
NM_000548.5(TSC2):c.4695del (p.Glu1565fs) rs137854171
NM_000548.5(TSC2):c.4697dup (p.His1566fs) rs137853974
NM_000548.5(TSC2):c.469G>T (p.Glu157Ter) rs45517108
NM_000548.5(TSC2):c.4700G>A (p.Gly1567Asp) rs45517364
NM_000548.5(TSC2):c.4700G>T (p.Gly1567Val) rs45517364
NM_000548.5(TSC2):c.4701C>T (p.Gly1567=) rs763804965
NM_000548.5(TSC2):c.4704del (p.Tyr1569fs) rs137854240
NM_000548.5(TSC2):c.4705_4706dup (p.Arg1570fs) rs397514992
NM_000548.5(TSC2):c.4706A>G (p.Tyr1569Cys) rs2090771064
NM_000548.5(TSC2):c.4707C>G (p.Tyr1569Ter) rs397515277
NM_000548.5(TSC2):c.4708A>T (p.Arg1570Trp) rs45517365
NM_000548.5(TSC2):c.4709G>C (p.Arg1570Thr) rs397514980
NM_000548.5(TSC2):c.4711T>A (p.Tyr1571Asn) rs397514905
NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys) rs45478894
NM_000548.5(TSC2):c.4713C>G (p.Tyr1571Ter) rs45517366
NM_000548.5(TSC2):c.4715C>T (p.Thr1572Met) rs1327099376
NM_000548.5(TSC2):c.4716G>T (p.Thr1572=) rs369346726
NM_000548.5(TSC2):c.4726_4782del (p.Thr1576_Leu1594del) rs137854039
NM_000548.5(TSC2):c.4727C>A (p.Thr1576Lys) rs45437192
NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met) rs45437192
NM_000548.5(TSC2):c.4727_4753del (p.Thr1576_Leu1584del) rs137854143
NM_000548.5(TSC2):c.4728G>C (p.Thr1576=) rs752642825
NM_000548.5(TSC2):c.4730del (p.Gly1577fs) rs397515173
NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro) rs45517367
NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser) rs45503995
NM_000548.5(TSC2):c.4736G>T (p.Gly1579Val) rs397515222
NM_000548.5(TSC2):c.4743del (p.Ile1582fs) rs137854148
NM_000548.5(TSC2):c.4744dup (p.Ile1582fs) rs137854356
NM_000548.5(TSC2):c.4749G>A (p.Glu1583=) rs1257270850
NM_000548.5(TSC2):c.4751T>G (p.Leu1584Arg) rs137854203
NM_000548.5(TSC2):c.4752del (p.Lys1585fs) rs397514937
NM_000548.5(TSC2):c.4753A>G (p.Lys1585Glu) rs2151573030
NM_000548.5(TSC2):c.4754A>G (p.Lys1585Arg) rs780758839
NM_000548.5(TSC2):c.4755G>C (p.Lys1585Asn) rs2090778953
NM_000548.5(TSC2):c.4758C>T (p.Asp1586=) rs1366814192
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter) rs45479192
NM_000548.5(TSC2):c.476A>G (p.Glu159Gly) rs1555497716
NM_000548.5(TSC2):c.4774del (p.Val1592fs) rs137854009
NM_000548.5(TSC2):c.4777dup (p.Tyr1593fs) rs397514889
NM_000548.5(TSC2):c.4779C>G (p.Tyr1593Ter) rs45517368
NM_000548.5(TSC2):c.4780C>A (p.Leu1594Met) rs45511204
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg) rs45517369
NM_000548.5(TSC2):c.4787G>T (p.Gly1596Val) rs397515014
NM_000548.5(TSC2):c.478C>G (p.Leu160Val) rs45517109
NM_000548.5(TSC2):c.4790T>C (p.Leu1597Pro) rs45517370
NM_000548.5(TSC2):c.4794C>G (p.Asp1598Glu) rs548102930
NM_000548.5(TSC2):c.481+1G>T rs45488500
NM_000548.5(TSC2):c.481+21G>C rs397515040
NM_000548.5(TSC2):c.481+5G>A rs137854135
NM_000548.5(TSC2):c.481+5G>T rs137854135
NM_000548.5(TSC2):c.4811G>A (p.Gly1604Asp)
NM_000548.5(TSC2):c.4813C>T (p.Gln1605Ter) rs397514888
NM_000548.5(TSC2):c.4818C>T (p.Phe1606=) rs2151575594
NM_000548.5(TSC2):c.482-10T>A rs2548432795
NM_000548.5(TSC2):c.482-13G>A rs1221885368
NM_000548.5(TSC2):c.482-1G>C rs137854306
NM_000548.5(TSC2):c.482-2A>C rs45517110
NM_000548.5(TSC2):c.482-2A>G rs45517110
NM_000548.5(TSC2):c.482-5C>G rs397515071
NM_000548.5(TSC2):c.482-5C>T rs397515071
NM_000548.5(TSC2):c.482-68C>G rs2516734
NM_000548.5(TSC2):c.482-7_482-6delinsAA rs137854412
NM_000548.5(TSC2):c.4820C>T (p.Thr1607Ile) rs2151575668
NM_000548.5(TSC2):c.4821del (p.Tyr1608fs) rs137854139
NM_000548.5(TSC2):c.4823A>C (p.Tyr1608Ser) rs759795928
NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del) rs137854399
NM_000548.5(TSC2):c.4825_4831del (p.Cys1609fs) rs137854134
NM_000548.5(TSC2):c.4828T>G (p.Trp1610Gly) rs397514966
NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter) rs45517371
NM_000548.5(TSC2):c.482C>T (p.Ala161Val) rs45481496
NM_000548.5(TSC2):c.482_483del (p.Ala161fs) rs137854235
NM_000548.5(TSC2):c.4830G>A (p.Trp1610Ter) rs45517372
NM_000548.5(TSC2):c.4830del (p.Trp1610fs) rs137854230
NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del) rs137854331
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+2T>A rs397515281
NM_000548.5(TSC2):c.4849+34C>T rs45493793
NM_000548.5(TSC2):c.4849+3A>G rs1057521378
NM_000548.5(TSC2):c.4849+5G>C
NM_000548.5(TSC2):c.4849+5_4849+32del rs2544382718
NM_000548.5(TSC2):c.4850-109T>C rs13335638
NM_000548.5(TSC2):c.4850-14C>T rs397515189
NM_000548.5(TSC2):c.4850-19C>G rs45517376
NM_000548.5(TSC2):c.4850-1G>A rs45517377
NM_000548.5(TSC2):c.4850-2A>C rs397515315
NM_000548.5(TSC2):c.4850-2A>G rs397515315
NM_000548.5(TSC2):c.4850-3C>G rs397514982
NM_000548.5(TSC2):c.4850-9C>A rs778560020
NM_000548.5(TSC2):c.4852_4860del (p.Val1618_His1620del) rs137854227
NM_000548.5(TSC2):c.4854C>G (p.Val1618=) rs45517378
NM_000548.5(TSC2):c.4854del (p.Phe1619fs) rs137854357
NM_000548.5(TSC2):c.4855_4857del (p.Phe1619del) rs397515084
NM_000548.5(TSC2):c.4856T>C (p.Phe1619Ser) rs45514993
NM_000548.5(TSC2):c.4858C>T (p.His1620Tyr) rs45446901
NM_000548.5(TSC2):c.4859A>G (p.His1620Arg) rs397515177
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile) rs397515220
NM_000548.5(TSC2):c.4869C>G (p.Thr1623=) rs150239180
NM_000548.5(TSC2):c.4870_4871del (p.Leu1624fs) rs137854095
NM_000548.5(TSC2):c.4870del (p.Thr1623_Leu1624insTer) rs137854187
NM_000548.5(TSC2):c.4871T>C (p.Leu1624Pro) rs137854221
NM_000548.5(TSC2):c.4873del (p.Met1625fs) rs137854257
NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs) rs137854050
NM_000548.5(TSC2):c.488_489del (p.Phe163fs) rs137854122
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys) rs760457821
NM_000548.5(TSC2):c.4905C>A (p.Cys1635Ter) rs397514999
NM_000548.5(TSC2):c.4908_4912del (p.Asp1636fs) rs2544402748
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4909_4910del (p.Lys1637fs) rs137854049
NM_000548.5(TSC2):c.4909_4920del (p.Lys1637_His1640del) rs137854267
NM_000548.5(TSC2):c.4910_4919del (p.Lys1637fs) rs397515117
NM_000548.5(TSC2):c.4910dup (p.Lys1638fs) rs137854233
NM_000548.5(TSC2):c.4913dup (p.Arg1639fs) rs397515196
NM_000548.5(TSC2):c.4914G>C (p.Lys1638Asn) rs137854094
NM_000548.5(TSC2):c.4914G>T (p.Lys1638Asn) rs137854094
NM_000548.5(TSC2):c.4915_4918dup (p.His1640fs) rs397515184
NM_000548.5(TSC2):c.4916G>T (p.Arg1639Leu) rs137854153
NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr) rs45485092
NM_000548.5(TSC2):c.4921C>G (p.Leu1641Val) rs1343423120
NM_000548.5(TSC2):c.4924G>A (p.Gly1642Ser)
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.4928A>G (p.Asn1643Ser) rs45517380
NM_000548.5(TSC2):c.4928A>T (p.Asn1643Ile) rs45517380
NM_000548.5(TSC2):c.4929C>G (p.Asn1643Lys) rs45517381
NM_000548.5(TSC2):c.4930G>C (p.Asp1644His) rs137853999
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs) rs137854141
NM_000548.5(TSC2):c.4935del (p.Phe1645fs) rs137854141
NM_000548.5(TSC2):c.4935dup (p.Val1646fs) rs137854141
NM_000548.5(TSC2):c.4937T>G (p.Val1646Gly) rs397514892
NM_000548.5(TSC2):c.4940C>T (p.Ser1647Phe) rs2090863579
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr) rs45471896
NM_000548.5(TSC2):c.4948T>A (p.Tyr1650Asn) rs137854212
NM_000548.5(TSC2):c.4949A>G (p.Tyr1650Cys) rs45501091
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro) rs397515159
NM_000548.5(TSC2):c.4958C>T (p.Ser1653Phe) rs45517383
NM_000548.5(TSC2):c.4959C>A (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.4965G>T (p.Glu1655Asp) rs1336162242
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter) rs45517111
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.4971del (p.Phe1657fs) rs137854181
NM_000548.5(TSC2):c.4974G>A (p.Lys1658=) rs45511393
NM_000548.5(TSC2):c.4975C>T (p.Leu1659Phe) rs45517385
NM_000548.5(TSC2):c.4989+18_4989+19insTGGTGAGTGAGGGGCCGTCA rs1168388514
NM_000548.5(TSC2):c.4989+1G>A rs45517386
NM_000548.5(TSC2):c.4989+1G>C rs45517386
NM_000548.5(TSC2):c.4989+1G>T rs45517386
NM_000548.5(TSC2):c.4989+1_4989+2insA rs1555438736
NM_000548.5(TSC2):c.4989+1del rs137854005
NM_000548.5(TSC2):c.4989+1dup rs137854005
NM_000548.5(TSC2):c.4989+2dup rs397515111
NM_000548.5(TSC2):c.4989+3G>C
NM_000548.5(TSC2):c.4989+6T>C rs2151589973
NM_000548.5(TSC2):c.4990-6G>A rs137853987
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter) rs45448101
NM_000548.5(TSC2):c.4994A>T (p.Gln1665Leu) rs747018176
NM_000548.5(TSC2):c.4del (p.Ala2fs) rs137854295
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=) rs551938797
NM_000548.5(TSC2):c.5003T>C (p.Phe1668Ser) rs1555439678
NM_000548.5(TSC2):c.5004T>G (p.Phe1668Leu) rs745787082
NM_000548.5(TSC2):c.5005G>A (p.Val1669Ile) rs2091047035
NM_000548.5(TSC2):c.5008C>G (p.His1670Asp) rs1596454994
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu) rs45490993
NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe) rs45490993
NM_000548.5(TSC2):c.5018T>A (p.Val1673Asp) rs397515067
NM_000548.5(TSC2):c.5020A>C (p.Thr1674Pro) rs45500595
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.5024del (p.Pro1675fs) rs397514915
NM_000548.5(TSC2):c.5025del (p.Leu1676fs) rs137854382
NM_000548.5(TSC2):c.502A>C (p.Met168Leu) rs779566253
NM_000548.5(TSC2):c.502A>G (p.Met168Val) rs779566253
NM_000548.5(TSC2):c.5032dup (p.Tyr1678fs) rs137854016
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.5034del (p.Asp1677_Tyr1678insTer) rs137854198
NM_000548.5(TSC2):c.5038T>A (p.Cys1680Ser) rs1555439802
NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys) rs45476793
NM_000548.5(TSC2):c.5050T>C (p.Ser1684Pro) rs45517387
NM_000548.5(TSC2):c.5050_5051insGCAGGGCAGGAAAGGTAGGGCCGGGTGGGG (p.Ser1684delinsCysArgAlaGlyLysValGlyProGlyGlyAla)
NM_000548.5(TSC2):c.5053del (p.Leu1685fs) rs137854060
NM_000548.5(TSC2):c.5056C>G (p.Gln1686Glu)
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter) rs45517388
NM_000548.5(TSC2):c.5057A>C (p.Gln1686Pro) rs397514983
NM_000548.5(TSC2):c.5057A>G (p.Gln1686Arg) rs397514983
NM_000548.5(TSC2):c.5068+16dup rs397514896
NM_000548.5(TSC2):c.5068+1G>A rs45445199
NM_000548.5(TSC2):c.5068+22_5068+23insTGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGC rs2544465021
NM_000548.5(TSC2):c.5068+27_5068+28insTGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGC
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5068+29_5068+30insTAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAG rs2544465076
NM_000548.5(TSC2):c.5068+2T>G 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.5069-11A>C rs562381623
NM_000548.5(TSC2):c.5069-14_5069-12del rs397514923
NM_000548.5(TSC2):c.5069-18A>G rs45484794
NM_000548.5(TSC2):c.5069-1G>A rs45517389
NM_000548.5(TSC2):c.5069-1G>C rs45517389
NM_000548.5(TSC2):c.5069-1G>T rs45517389
NM_000548.5(TSC2):c.5069-2A>G rs45487291
NM_000548.5(TSC2):c.5069-3C>T rs2091085832
NM_000548.5(TSC2):c.5069-47_5069-13dup rs397515006
NM_000548.5(TSC2):c.5069-4C>T rs1555440004
NM_000548.5(TSC2):c.5069-9T>C rs1338116109
NM_000548.5(TSC2):c.5073G>A (p.Met1691Ile) rs2091087331
NM_000548.5(TSC2):c.5075_5078del (p.Glu1692fs) rs137854037
NM_000548.5(TSC2):c.5078_5081del (p.Gly1693fs) rs137854280
NM_000548.5(TSC2):c.5080C>T (p.Leu1694Phe) rs760781650
NM_000548.5(TSC2):c.5084T>C (p.Val1695Ala) rs1420526276
NM_000548.5(TSC2):c.5084_5094del (p.Val1695fs) rs137853985
NM_000548.5(TSC2):c.5090C>A (p.Thr1697Asn) rs777223264
NM_000548.5(TSC2):c.5090C>G (p.Thr1697Ser) rs777223264
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=) rs45514196
NM_000548.5(TSC2):c.509_510insAT (p.Gly171fs) rs397515229
NM_000548.5(TSC2):c.50T>G (p.Ile17Ser) rs2548349184
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.5108T>C (p.Val1703Ala) rs45498401
NM_000548.5(TSC2):c.5108T>G (p.Val1703Gly) rs45498401
NM_000548.5(TSC2):c.5108dup (p.Ser1704fs) rs397515227
NM_000548.5(TSC2):c.5109G>C (p.Val1703=) rs770413433
NM_000548.5(TSC2):c.5112dup (p.Asp1705Ter) rs397515205
NM_000548.5(TSC2):c.5115C>G (p.Asp1705Glu) rs1385591764
NM_000548.5(TSC2):c.5116dup (p.Arg1706fs) rs137853981
NM_000548.5(TSC2):c.5121C>T (p.Asn1707=) rs2151621840
NM_000548.5(TSC2):c.5122del (p.Leu1708fs) rs137854336
NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro) rs397515274
NM_000548.5(TSC2):c.5124G>A (p.Leu1708=) rs2151622005
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.5127dup (p.Phe1710fs) rs397515164
NM_000548.5(TSC2):c.512G>A (p.Gly171Asp) rs983899092
NM_000548.5(TSC2):c.5130C>A (p.Phe1710Leu) rs760978505
NM_000548.5(TSC2):c.5131G>C (p.Val1711Leu) rs139779505
NM_000548.5(TSC2):c.5135C>A (p.Ala1712Asp) rs45517394
NM_000548.5(TSC2):c.5136_5137del (p.Arg1713fs) rs137854136
NM_000548.5(TSC2):c.5137del (p.Arg1713fs) rs137854136
NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro) rs45517395
NM_000548.5(TSC2):c.5138G>T (p.Arg1713Leu) rs45517395
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter) rs45517396
NM_000548.5(TSC2):c.5143A>G (p.Met1715Val) rs397514974
NM_000548.5(TSC2):c.5144_5155del (p.Met1715_Ala1719delinsThr) rs137854321
NM_000548.5(TSC2):c.5146G>C (p.Ala1716Pro) rs45517397
NM_000548.5(TSC2):c.5148C>T (p.Ala1716=) rs45482604
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) rs45517398
NM_000548.5(TSC2):c.5152_5160+1del rs137854164
NM_000548.5(TSC2):c.5154_5157dup (p.Asn1720fs) rs397515202
NM_000548.5(TSC2):c.5159del (p.Asn1720fs) rs137854294
NM_000548.5(TSC2):c.5160+11dup rs137854048
NM_000548.5(TSC2):c.5160+1G>A rs45517399
NM_000548.5(TSC2):c.5160+1G>C 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>A rs45517401
NM_000548.5(TSC2):c.5160+3G>C rs45517401
NM_000548.5(TSC2):c.5160+43C>T rs45517402
NM_000548.5(TSC2):c.5160+4A>G rs45517403
NM_000548.5(TSC2):c.5160+5G>A rs45515392
NM_000548.5(TSC2):c.5160+5G>T rs45515392
NM_000548.5(TSC2):c.5160+6dup rs1555440266
NM_000548.5(TSC2):c.5160T>A (p.Asn1720Lys) rs137854883
NM_000548.5(TSC2):c.5160T>C (p.Asn1720=) rs137854883
NM_000548.5(TSC2):c.5161-10A>G rs1800718
NM_000548.5(TSC2):c.5161-10_5161-7del rs137854033
NM_000548.5(TSC2):c.5161-13C>G rs45517405
NM_000548.5(TSC2):c.5161-15T>C rs397515279
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.5161-26_5161-23del rs137854062
NM_000548.5(TSC2):c.5161-27_5161-25del rs137854351
NM_000548.5(TSC2):c.5161-28_5161-25del rs1799758
NM_000548.5(TSC2):c.5161-5C>T rs775534948
NM_000548.5(TSC2):c.5161-9C>A rs45515893
NM_000548.5(TSC2):c.5161A>C (p.Met1721Leu) rs45517407
NM_000548.5(TSC2):c.5161del (p.Met1721fs) rs137854251
NM_000548.5(TSC2):c.5164G>C (p.Ala1722Pro) rs397515270
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro) rs45517408
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter) rs45472701
NM_000548.5(TSC2):c.5170_5171del (p.Gln1724fs) rs137854085
NM_000548.5(TSC2):c.5173G>A (p.Val1725Met) rs2151628159
NM_000548.5(TSC2):c.5173del (p.Val1725fs) rs137854077
NM_000548.5(TSC2):c.5176dup (p.His1726fs) rs397515155
NM_000548.5(TSC2):c.5177A>C (p.His1726Pro) rs1555440475
NM_000548.5(TSC2):c.517T>C (p.Ser173Pro) rs2151059325
NM_000548.5(TSC2):c.5184C>G (p.Ser1728Arg) rs397514955
NM_000548.5(TSC2):c.5189C>G (p.Ser1730Cys) rs2091134565
NM_000548.5(TSC2):c.518C>T (p.Ser173Phe) rs773662047
NM_000548.5(TSC2):c.5190C>A (p.Ser1730=) rs1305025066
NM_000548.5(TSC2):c.5192del (p.Asn1731fs) rs397514973
NM_000548.5(TSC2):c.5197_5212del (p.Thr1733fs) rs137854091
NM_000548.5(TSC2):c.5197dup (p.Thr1733fs) rs137854414
NM_000548.5(TSC2):c.5199C>G (p.Thr1733=) rs778378296
NM_000548.5(TSC2):c.5201A>C (p.Asp1734Ala) rs878854117
NM_000548.5(TSC2):c.5202T>A (p.Asp1734Glu) rs1748
NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val) rs781407050
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.5211C>T (p.Pro1737=) rs151298910
NM_000548.5(TSC2):c.5211_5214del (p.Lys1739fs) rs137854408
NM_000548.5(TSC2):c.5214dup (p.Lys1739fs) rs397515139
NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter) rs137854219
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser) rs137854219
NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter) rs45517411
NM_000548.5(TSC2):c.5220G>T (p.Trp1740Cys) rs45517411
NM_000548.5(TSC2):c.5220_5225dup (p.Ile1741_Ala1742dup) rs137854107
NM_000548.5(TSC2):c.5224_5241del (p.Ala1742_Ile1747del) rs397515245
NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly) rs45517412
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.5228G>T (p.Arg1743Leu) rs45507199
NM_000548.5(TSC2):c.5229G>A (p.Arg1743=)
NM_000548.5(TSC2):c.5230C>T (p.Leu1744Phe) rs1567132207
NM_000548.5(TSC2):c.5230_5236del (p.Leu1744fs) rs397515001
NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro) rs45517413
NM_000548.5(TSC2):c.5232C>G (p.Leu1744=) rs772865175
NM_000548.5(TSC2):c.5234_5237del (p.Arg1745fs) rs137854396
NM_000548.5(TSC2):c.5234_5238del (p.Arg1745fs) rs137854002
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.523G>A (p.Glu175Lys) rs1555498151
NM_000548.5(TSC2):c.5246G>A (p.Arg1749Gln) rs1555440785
NM_000548.5(TSC2):c.5247del (p.Leu1750fs) rs397515109
NM_000548.5(TSC2):c.5247dup (p.Leu1750fs) rs397515109
NM_000548.5(TSC2):c.5248C>T (p.Leu1750Phe) rs45459299
NM_000548.5(TSC2):c.5249T>C (p.Leu1750Pro) rs397515217
NM_000548.5(TSC2):c.5250C>A (p.Leu1750=) rs370353005
NM_000548.5(TSC2):c.5252_5259+19del rs137854397
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5258G>C (p.Arg1753Pro) rs749487441
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.5259+2T>A
NM_000548.5(TSC2):c.5259+38C>G rs45517415
NM_000548.5(TSC2):c.5259+3A>G rs1555440897
NM_000548.5(TSC2):c.5259+50_5275del rs2091168537
NM_000548.5(TSC2):c.525del (p.Glu175fs) rs137854277
NM_000548.5(TSC2):c.5260-10C>T rs2091183190
NM_000548.5(TSC2):c.5260-10_5278del rs756272343
NM_000548.5(TSC2):c.5260-25C>G rs13332222
NM_000548.5(TSC2):c.5260-42C>T rs45517417
NM_000548.5(TSC2):c.5261T>G (p.Ile1754Ser) rs762320484
NM_000548.5(TSC2):c.5262C>A (p.Ile1754=) rs397515318
NM_000548.5(TSC2):c.5262C>T (p.Ile1754=) rs397515318
NM_000548.5(TSC2):c.5267A>G (p.Glu1756Gly) rs886051797
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys) rs1060500957
NM_000548.5(TSC2):c.5269_5270dup (p.Ala1758fs) rs397514925
NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro) rs1555441169
NM_000548.5(TSC2):c.5276C>A (p.Ala1759Asp) rs45477298
NM_000548.5(TSC2):c.5284A>C (p.Asn1762His) rs1567133600
NM_000548.5(TSC2):c.5285del (p.Asn1762fs) rs137854169
NM_000548.5(TSC2):c.5293C>T (p.Leu1765=) rs1060500954
NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu) rs748936673
NM_000548.5(TSC2):c.529del (p.Leu177fs) rs137853991
NM_000548.5(TSC2):c.5301G>A (p.Leu1767=) rs886051798
NM_000548.5(TSC2):c.5303T>C (p.Val1768Ala) rs1171556696
NM_000548.5(TSC2):c.5315C>T (p.Ser1772Phe) rs2151639562
NM_000548.5(TSC2):c.5318A>C (p.His1773Pro) rs45517418
NM_000548.5(TSC2):c.5340_5371del (p.Pro1784fs) rs137854420
NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu) rs878854119
NM_000548.5(TSC2):c.5345C>G (p.Ala1782Gly) rs2091206453
NM_000548.5(TSC2):c.5346C>T (p.Ala1782=) rs557200243
NM_000548.5(TSC2):c.5359G>C (p.Gly1787Arg) rs45517419
NM_000548.5(TSC2):c.5363A>T (p.Tyr1788Phe) rs397515221
NM_000548.5(TSC2):c.5365G>C (p.Glu1789Gln) rs45517420
NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp) rs966695764
NM_000548.5(TSC2):c.5371G>A (p.Gly1791Ser) rs45517421
NM_000548.5(TSC2):c.5376G>C (p.Gln1792His) rs45517422
NM_000548.5(TSC2):c.5380_5382dup (p.Lys1794dup) rs137854335
NM_000548.5(TSC2):c.5381A>G (p.Lys1794Arg) rs756064266
NM_000548.5(TSC2):c.5383C>G (p.Arg1795Gly) rs45517423
NM_000548.5(TSC2):c.5384G>T (p.Arg1795Leu) rs137854288
NM_000548.5(TSC2):c.5386C>A (p.Leu1796Ile) rs45455398
NM_000548.5(TSC2):c.5387_5388insTCATCTCCTCGGTGGAGGACT (p.Leu1796_Ile1797insHisLeuLeuGlyGlyGlyLeu) rs2544519081
NM_000548.5(TSC2):c.5388dup (p.Ile1797fs) rs137854130
NM_000548.5(TSC2):c.5391CTC[1] (p.Ser1799del) rs796053480
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.5402_5403del (p.Glu1801fs) rs397514972
NM_000548.5(TSC2):c.5403G>A (p.Glu1801=) rs1060500918
NM_000548.5(TSC2):c.5408dup (p.Thr1804fs) rs137854228
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.5414dup (p.Phe1806fs) rs397515143
NM_000548.5(TSC2):c.5418_5419insTG (p.Val1807fs) rs2544522021
NM_000548.5(TSC2):c.5419G>T (p.Val1807Leu) rs45486402
NM_000548.5(TSC2):c.5420T>C (p.Val1807Ala) rs2544522065
NM_000548.5(TSC2):c.5420_5423del (p.Val1807fs) rs137854027
NM_000548.5(TSC2):c.5421G>A (p.Val1807=) rs1596464773
NM_000548.5(TSC2):c.5422T>A (p.Ter1808Arg) rs1567135442
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?) rs137854027
NM_000548.5(TSC2):c.548T>A (p.Leu183Ter) rs45470502
NM_000548.5(TSC2):c.552C>G (p.Val184=) rs199991910
NM_000548.5(TSC2):c.560A>T (p.Asn187Ile) rs45505405
NM_000548.5(TSC2):c.565_575del (p.Cys189fs) rs397515120
NM_000548.5(TSC2):c.566G>C (p.Cys189Ser) rs764218079
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter) rs137854359
NM_000548.5(TSC2):c.570C>A (p.Tyr190Ter) rs397515099
NM_000548.5(TSC2):c.573C>G (p.Leu191=) rs397515059
NM_000548.5(TSC2):c.574G>A (p.Asp192Asn) rs1284679649
NM_000548.5(TSC2):c.576C>A (p.Asp192Glu) rs761704292
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter) rs45517112
NM_000548.5(TSC2):c.585C>A (p.Ile195=) rs397515309
NM_000548.5(TSC2):c.589dup (p.Arg197fs) rs137854172
NM_000548.5(TSC2):c.591del (p.Met198fs) rs137854300
NM_000548.5(TSC2):c.593T>C (p.Met198Thr) rs45517114
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>G rs45484992
NM_000548.5(TSC2):c.599+4A>G rs397515140
NM_000548.5(TSC2):c.599+5G>A rs45463996
NM_000548.5(TSC2):c.599+5G>C rs45463996
NM_000548.5(TSC2):c.600-11G>A rs1346678348
NM_000548.5(TSC2):c.600-145C>T
NM_000548.5(TSC2):c.600-15C>A rs369708731
NM_000548.5(TSC2):c.600-1G>A rs45517117
NM_000548.5(TSC2):c.600-2A>G rs45468592
NM_000548.5(TSC2):c.600-36C>T rs397515057
NM_000548.5(TSC2):c.600-4G>T rs976201466
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.614T>C (p.Leu205Pro) rs2085789314
NM_000548.5(TSC2):c.618C>A (p.Cys206Ter) rs45498496
NM_000548.5(TSC2):c.630G>C (p.Ala210=) rs567756494
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe) rs878854120
NM_000548.5(TSC2):c.633del (p.Ser212fs) rs137854205
NM_000548.5(TSC2):c.637G>A (p.Val213Met) rs1060500927
NM_000548.5(TSC2):c.646G>C (p.Glu216Gln) rs45517118
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter) rs45517118
NM_000548.5(TSC2):c.648+1G>A rs45488893
NM_000548.5(TSC2):c.648+5G>C rs2085796888
NM_000548.5(TSC2):c.649-11C>T
NM_000548.5(TSC2):c.649-12C>T rs1596277751
NM_000548.5(TSC2):c.649-1G>A rs794727906
NM_000548.5(TSC2):c.655del (p.Leu219fs) rs397515286
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro) rs397515249
NM_000548.5(TSC2):c.657del (p.Gln220fs) rs397515181
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter) rs45517119
NM_000548.5(TSC2):c.665T>C (p.Leu222Pro) rs45517120
NM_000548.5(TSC2):c.665_671del (p.Leu222fs) rs397514921
NM_000548.5(TSC2):c.667G>C (p.Asp223His) rs45517121
NM_000548.5(TSC2):c.667G>T (p.Asp223Tyr) rs45517121
NM_000548.5(TSC2):c.668A>G (p.Asp223Gly) rs2151078058
NM_000548.5(TSC2):c.670G>A (p.Ala224Thr) rs772558666
NM_000548.5(TSC2):c.672del (p.Val225fs) rs137854174
NM_000548.5(TSC2):c.680G>A (p.Cys227Tyr) rs45517122
NM_000548.5(TSC2):c.684C>A (p.Tyr228Ter) rs397515034
NM_000548.5(TSC2):c.684del (p.Cys227_Tyr228insTer) rs397515124
NM_000548.5(TSC2):c.688T>A (p.Cys230Ser) rs1043187800
NM_000548.5(TSC2):c.6_12delinsAAAGATTCAGGCTTGAAGGAGAAGTTTAAGATCC (p.Pro4delinsIleGlnAlaTer)
NM_000548.5(TSC2):c.700G>T (p.Glu234Ter) rs397515018
NM_000548.5(TSC2):c.707dup (p.Leu238fs) rs137854056
NM_000548.5(TSC2):c.709_710dup (p.Leu238fs) rs397515166
NM_000548.5(TSC2):c.710del (p.Pro237fs) rs397515166
NM_000548.5(TSC2):c.716T>G (p.Phe239Cys) rs778544723
NM_000548.5(TSC2):c.718A>G (p.Ile240Val) rs796053482
NM_000548.5(TSC2):c.720_722del (p.Val241del) rs397514893
NM_000548.5(TSC2):c.724dup (p.Thr242fs) rs397515256
NM_000548.5(TSC2):c.726C>T (p.Thr242=) rs570051626
NM_000548.5(TSC2):c.727del (p.Leu243fs) rs397514956
NM_000548.5(TSC2):c.729_730del (p.Cys244fs) rs137854236
NM_000548.5(TSC2):c.730T>C (p.Cys244Arg) rs137854101
NM_000548.5(TSC2):c.731G>A (p.Cys244Tyr) rs45517124
NM_000548.5(TSC2):c.731_732del (p.Cys244fs) rs137854191
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123
NM_000548.5(TSC2):c.745G>C (p.Val249Leu) rs750649974
NM_000548.5(TSC2):c.746T>C (p.Val249Ala) rs1596278719
NM_000548.5(TSC2):c.758G>T (p.Cys253Phe) rs766547457
NM_000548.5(TSC2):c.759C>A (p.Cys253Ter) rs45517125
NM_000548.5(TSC2):c.760G>T (p.Glu254Ter) rs45517126
NM_000548.5(TSC2):c.764C>A (p.Pro255His) rs2085896951
NM_000548.5(TSC2):c.764C>G (p.Pro255Arg) rs2085896951
NM_000548.5(TSC2):c.767dup (p.Cys256fs) rs137854025
NM_000548.5(TSC2):c.768C>A (p.Cys256Ter) rs45517127
NM_000548.5(TSC2):c.774+1G>A rs45517128
NM_000548.5(TSC2):c.774+1G>C rs45517128
NM_000548.5(TSC2):c.774+1G>T rs45517128
NM_000548.5(TSC2):c.774+24G>T rs397515312
NM_000548.5(TSC2):c.774+28G>C rs137854195
NM_000548.5(TSC2):c.774+2T>A rs45517129
NM_000548.5(TSC2):c.774G>C (p.Lys258Asn) rs137854875
NM_000548.5(TSC2):c.775-10T>A rs1555499018
NM_000548.5(TSC2):c.775-17C>A rs137854299
NM_000548.5(TSC2):c.775-1G>A rs45454192
NM_000548.5(TSC2):c.775-3C>G rs397514909
NM_000548.5(TSC2):c.775-3C>T rs397514909
NM_000548.5(TSC2):c.779T>C (p.Met260Thr) rs2548472429
NM_000548.5(TSC2):c.77C>T (p.Pro26Leu) rs1555494636
NM_000548.5(TSC2):c.781C>G (p.Arg261Gly) rs45517130
NM_000548.5(TSC2):c.782G>C (p.Arg261Pro) rs45502703
NM_000548.5(TSC2):c.791T>C (p.Leu264Pro) rs45517131
NM_000548.5(TSC2):c.79A>G (p.Asn27Asp) rs2084677815
NM_000548.5(TSC2):c.801C>T (p.His267=) rs2548473179
NM_000548.5(TSC2):c.810C>T (p.His270=) rs1596280678
NM_000548.5(TSC2):c.811A>G (p.Ser271Gly) rs1555499071
NM_000548.5(TSC2):c.814G>T (p.Ala272Ser) rs373818076
NM_000548.5(TSC2):c.818T>C (p.Ile273Thr) rs1366677287
NM_000548.5(TSC2):c.81T>A (p.Asn27Lys) rs2548350127
NM_000548.5(TSC2):c.821ACA[1] (p.Asn275del) rs397514926
NM_000548.5(TSC2):c.825C>A (p.Asn275Lys) rs45468594
NM_000548.5(TSC2):c.825C>G (p.Asn275Lys) rs45468594
NM_000548.5(TSC2):c.826A>G (p.Met276Val) rs1238874343
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977
NM_000548.5(TSC2):c.832dup (p.His278fs) rs137854020
NM_000548.5(TSC2):c.833A>C (p.His278Pro) rs397515266
NM_000548.5(TSC2):c.833A>G (p.His278Arg) rs397515266
NM_000548.5(TSC2):c.846C>A (p.Asp282Glu) rs587778734
NM_000548.5(TSC2):c.848+1G>A rs45466296
NM_000548.5(TSC2):c.848+281C>T rs45517132
NM_000548.5(TSC2):c.848+39G>T rs45453000
NM_000548.5(TSC2):c.848+3del rs137854057
NM_000548.5(TSC2):c.848+5G>T rs1370989559
NM_000548.5(TSC2):c.849-17C>T rs45517133
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>G rs45517134
NM_000548.5(TSC2):c.849-3T>G rs45489591
NM_000548.5(TSC2):c.849-53G>A rs45517135
NM_000548.5(TSC2):c.856A>C (p.Met286Leu) rs1800748
NM_000548.5(TSC2):c.859G>A (p.Glu287Lys) rs397515300
NM_000548.5(TSC2):c.859G>T (p.Glu287Ter) rs397515300
NM_000548.5(TSC2):c.861G>A (p.Glu287=) rs192567788
NM_000548.5(TSC2):c.871dup (p.Leu291fs) rs137854052
NM_000548.5(TSC2):c.875T>C (p.Leu292Pro) rs45517138
NM_000548.5(TSC2):c.879_880del (p.Gly294fs) rs137854364
NM_000548.5(TSC2):c.87G>A (p.Arg29=) rs1010489256
NM_000548.5(TSC2):c.880G>A (p.Gly294Arg) rs45517139
NM_000548.5(TSC2):c.881G>A (p.Gly294Glu) rs45487497
NM_000548.5(TSC2):c.889_890delinsA (p.Phe297fs) rs137853976
NM_000548.5(TSC2):c.894dup (p.Val299fs) rs137854024
NM_000548.5(TSC2):c.896T>G (p.Val299Gly) rs397514986
NM_000548.5(TSC2):c.897G>A (p.Val299=) rs1382139812
NM_000548.5(TSC2):c.89C>G (p.Ser30Cys) rs1425163522
NM_000548.5(TSC2):c.900_914dup (p.Met301_Gly305dup) rs137854259
NM_000548.5(TSC2):c.902T>A (p.Met301Lys) rs1060500949
NM_000548.5(TSC2):c.907C>A (p.Leu303Ile) rs1060500943
NM_000548.5(TSC2):c.907C>T (p.Leu303Phe) rs1060500943
NM_000548.5(TSC2):c.909_910dup (p.Trp304fs) rs397515253
NM_000548.5(TSC2):c.909_928del (p.Trp304fs) rs137854012
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000548.5(TSC2):c.910_911del (p.Trp304fs) rs397515106
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter) rs45517140
NM_000548.5(TSC2):c.912G>A (p.Trp304Ter) rs397514884
NM_000548.5(TSC2):c.916G>T (p.Ala306Ser) rs1215705768
NM_000548.5(TSC2):c.917C>T (p.Ala306Val) rs2086235107
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly) rs201144475
NM_000548.5(TSC2):c.925del (p.Leu309fs) rs137854138
NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln) rs137853986
NM_000548.5(TSC2):c.926del (p.Leu309fs) rs397515190
NM_000548.5(TSC2):c.927C>T (p.Leu309=) rs79786059
NM_000548.5(TSC2):c.928dup (p.Tyr310fs) rs397515031
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys) rs878854122
NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe) rs878854122
NM_000548.5(TSC2):c.930T>C (p.Tyr310=) rs886041758
NM_000548.5(TSC2):c.931T>C (p.Ser311Pro) rs775590764
NM_000548.5(TSC2):c.936C>G (p.Leu312=) rs2086239603
NM_000548.5(TSC2):c.940_941insCT (p.Asn314fs) rs137854386
NM_000548.5(TSC2):c.947C>T (p.Pro316Leu) rs751490043
NM_000548.5(TSC2):c.949_950insTA (p.Thr317fs) rs397515153
NM_000548.5(TSC2):c.94G>C (p.Glu32Gln) rs2084679567
NM_000548.5(TSC2):c.953C>T (p.Ser318Phe) rs1060500970
NM_000548.5(TSC2):c.955G>A (p.Val319Met) rs1432086775
NM_000548.5(TSC2):c.956dup (p.Leu320fs) rs137854263
NM_000548.5(TSC2):c.957_958del (p.Leu320fs) rs137854347
NM_000548.5(TSC2):c.960G>T (p.Leu320Phe) rs1131825
NM_000548.5(TSC2):c.96G>A (p.Glu32=) rs1567380772
NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter) rs45517143
NM_000548.5(TSC2):c.972C>G (p.Tyr324Ter) rs45517143
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter) rs397515097
NM_000548.5(TSC2):c.975+1G>A rs137854200
NM_000548.5(TSC2):c.975+1G>T rs137854200
NM_000548.5(TSC2):c.975+1del rs137854388
NM_000548.5(TSC2):c.975+5G>C rs45458600
NM_000548.5(TSC2):c.975+5G>T rs45458600
NM_000548.5(TSC2):c.975G>C (p.Gln325His) rs1567416259
NM_000548.5(TSC2):c.976-14G>A rs397515186
NM_000548.5(TSC2):c.976-14G>C rs397515186
NM_000548.5(TSC2):c.976-15G>A rs45517150
NM_000548.5(TSC2):c.976-1G>A rs45451199
NM_000548.5(TSC2):c.976-1G>T rs45451199
NM_000548.5(TSC2):c.976-3C>G rs45517151
NM_000548.5(TSC2):c.976-40G>A rs137854031
NM_000548.5(TSC2):c.978dup (p.Met327fs) rs397514960
NM_000548.5(TSC2):c.979_980dup (p.Met327fs) rs397515176
NM_000548.5(TSC2):c.982G>A (p.Ala328Thr) rs45517152
NM_000548.5(TSC2):c.982G>C (p.Ala328Pro) rs45517152
NM_000548.5(TSC2):c.989C>G (p.Pro330Arg) rs140910086
NM_000548.5(TSC2):c.98G>A (p.Gly33Asp) rs1352220583
NM_000548.5(TSC2):c.993C>A (p.Asn331Lys) rs45517153
NM_000548.5(TSC2):c.993C>G (p.Asn331Lys) rs45517153
TSC1:c.1142-22_1142-21del rs118203500
p.?

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