ClinVar Miner

List of variants in gene TSC2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 1784
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1716+183A>G rs8063461 0.57327
NM_000548.5(TSC2):c.1120-93T>C rs17135764 0.56219
NM_000548.5(TSC2):c.976-100C>G rs2074968 0.53103
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.3883+226G>A rs9928737 0.23115
NM_000548.5(TSC2):c.2546-12C>T rs13331451 0.21707
NM_000548.5(TSC2):c.5260-49C>T rs13332221 0.19533
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_000548.5(TSC2):c.2098-114A>G rs6600185 0.11178
NM_000548.5(TSC2):c.2838-282A>C rs13339195 0.11172
NM_000548.5(TSC2):c.2221-28A>G rs7196184 0.11019
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_000548.5(TSC2):c.1599+216T>G rs17654678 0.07581
NM_000548.5(TSC2):c.1600-39C>T rs45477195 0.07469
NM_000548.5(TSC2):c.2967-118T>C rs9925571 0.06490
NM_000548.5(TSC2):c.4005+84C>T rs30259 0.06389
NM_000548.5(TSC2):c.2545+157G>C rs9941195 0.05744
NM_000548.5(TSC2):c.2545+240C>T rs9921591 0.05743
NM_000548.5(TSC2):c.2966+121C>G rs74002771 0.05716
NM_000548.5(TSC2):c.4849+97del rs142421783 0.05406
NM_000548.5(TSC2):c.1716+221T>C rs13331020 0.05383
NM_000548.5(TSC2):c.3397+126C>T rs115243225 0.05167
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.3610+168G>A rs9922898 0.04781
NM_000548.5(TSC2):c.976-63G>A rs12927333 0.04770
NM_000548.5(TSC2):c.2220+182C>T rs12325450 0.04249
NM_000548.5(TSC2):c.3610+42dup rs397515119 0.04010
NM_000548.5(TSC2):c.*26G>A rs13332015 0.03592
NM_000548.5(TSC2):c.2545+194A>G rs7185909 0.03274
NM_000548.5(TSC2):c.226-338C>T rs2516735 0.03209
NM_000548.5(TSC2):c.1600-310C>T rs146267799 0.03173
NM_000548.5(TSC2):c.2838-372C>T rs61260040 0.03117
NM_000548.5(TSC2):c.3883+78G>A rs1800705 0.02672
NM_000548.5(TSC2):c.3398-140C>T rs56725934 0.02621
NM_000548.5(TSC2):c.2355+214G>T rs117996133 0.02481
NM_000548.5(TSC2):c.3610+262A>G rs60906239 0.02287
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02253
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_000548.5(TSC2):c.1443+256G>A rs114236708 0.02214
NM_000548.5(TSC2):c.3814+141C>T rs7196774 0.02143
NM_000548.5(TSC2):c.4989+107A>C rs114989209 0.01932
NM_000548.5(TSC2):c.2966+217G>T rs118124428 0.01902
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_000548.5(TSC2):c.482-114T>C rs77037371 0.01383
NM_000548.5(TSC2):c.3815-155A>G rs187607083 0.01319
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01297
NM_000548.5(TSC2):c.848+276C>G rs60154230 0.01237
NM_000548.5(TSC2):c.849-323G>A rs113694289 0.01233
NM_000548.5(TSC2):c.3883+66G>A rs74002774 0.01226
NM_000548.5(TSC2):c.4849+76G>A rs144647393 0.01219
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_000548.5(TSC2):c.2355+166C>T rs116671341 0.01177
NM_000548.5(TSC2):c.848+113A>G rs56077830 0.01171
NM_000548.5(TSC2):c.1599+162C>T rs74819416 0.01165
NM_000548.5(TSC2):c.336+233T>C rs144712953 0.01042
NM_000548.5(TSC2):c.2546-31G>A rs145738496 0.01027
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384 0.01015
NM_000548.5(TSC2):c.3610+171A>G rs138163125 0.00985
NM_000548.5(TSC2):c.1444-100A>G rs114861515 0.00958
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_000548.5(TSC2):c.2967-165T>A rs77735328 0.00940
NM_000548.5(TSC2):c.226-82C>T rs7185742 0.00934
NM_000548.5(TSC2):c.2097+43A>G rs186681035 0.00912
NM_000548.5(TSC2):c.1444-283G>A rs575523507 0.00907
NM_000548.5(TSC2):c.4569+44C>T rs142227748 0.00905
NM_000548.5(TSC2):c.4990-7C>T rs45457095 0.00888
NM_000548.5(TSC2):c.2356-176G>T rs116444190 0.00881
NM_000548.5(TSC2):c.1443+255C>T rs116134738 0.00875
NM_000548.5(TSC2):c.3610+266C>T rs184695141 0.00841
NM_000548.5(TSC2):c.2967-304G>A rs77620349 0.00833
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742 0.00823
NM_000548.5(TSC2):c.3610+264G>A rs143022087 0.00790
NM_000548.5(TSC2):c.3397+161G>A rs191264187 0.00780
NM_000548.5(TSC2):c.4006-94G>A rs145263137 0.00760
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_000548.5(TSC2):c.600-84C>T rs35364892 0.00754
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166 0.00749
NM_000548.5(TSC2):c.1444-232C>T rs4335770 0.00748
NM_000548.5(TSC2):c.3815-58C>T rs145101905 0.00697
NM_000548.5(TSC2):c.599+327G>A rs28735816 0.00689
NM_000548.5(TSC2):c.1717-67A>G rs182404389 0.00623
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_000548.5(TSC2):c.2743-40A>G rs45517265 0.00586
NM_000548.5(TSC2):c.1839+248C>T rs142694430 0.00582
NM_000548.5(TSC2):c.2545+31C>T rs45517243 0.00548
NM_000548.5(TSC2):c.2837+286T>G rs189502160 0.00539
NM_000548.5(TSC2):c.1444-151C>T rs116269447 0.00532
NM_000548.5(TSC2):c.138+211T>C rs3211962 0.00504
NM_000548.5(TSC2):c.1716+82T>C rs144949495 0.00502
NM_000548.5(TSC2):c.2355+153A>G rs114648999 0.00498
NM_000548.5(TSC2):c.1361+16T>G rs45502491 0.00476
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923 0.00468
NM_000548.5(TSC2):c.2640-65C>T rs138967036 0.00463
NM_000548.5(TSC2):c.2967-185C>T rs114526593 0.00463
NM_000548.5(TSC2):c.1600-238C>T rs139061979 0.00456
NM_000548.5(TSC2):c.336+32C>T rs45517103 0.00456
NM_000548.5(TSC2):c.599+241G>T rs534820975 0.00450
NM_000548.5(TSC2):c.138+263C>A rs147607620 0.00436
NM_000548.5(TSC2):c.3815-308T>C rs186379642 0.00432
NM_000548.5(TSC2):c.976-44G>A rs188449241 0.00431
NM_000548.5(TSC2):c.3884-68C>T rs114209035 0.00430
NM_000548.5(TSC2):c.2837+251G>A rs185041572 0.00424
NM_000548.5(TSC2):c.3610+214C>T rs189844584 0.00419
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.2097+48G>T rs190309164 0.00411
NM_000548.5(TSC2):c.1119+233C>T rs139167052 0.00407
NM_000548.5(TSC2):c.649-198A>G rs187353366 0.00401
NM_000548.5(TSC2):c.2545+135C>T rs139579913 0.00387
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.1443+18C>T rs375947241 0.00379
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141 0.00379
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354 0.00377
NM_000548.5(TSC2):c.848+7G>A rs45442896 0.00376
NM_000548.5(TSC2):c.1600-64T>G rs553684075 0.00372
NM_000548.5(TSC2):c.139-160A>G rs529566060 0.00371
NM_000548.5(TSC2):c.482-268G>A rs141986802 0.00367
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_000548.5(TSC2):c.975+214T>C rs183097117 0.00360
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_000548.5(TSC2):c.1361+18G>C rs140223009 0.00350
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_000548.5(TSC2):c.648+162C>T rs573404958 0.00330
NM_000548.5(TSC2):c.2966+247G>A rs531503301 0.00315
NM_000548.5(TSC2):c.3397+56C>T rs533389245 0.00310
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_000548.5(TSC2):c.3611-59G>A rs189285826 0.00302
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097 0.00297
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00287
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
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_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_000548.5(TSC2):c.3815-15G>A rs45480591 0.00149
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
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 0.00122
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792 0.00116
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992 0.00109
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_000548.5(TSC2):c.262C>T (p.Leu88=) rs45485999 0.00096
NM_000548.5(TSC2):c.5161-9C>T rs45515893 0.00094
NM_000548.5(TSC2):c.600-180C>A rs537423263 0.00093
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267 0.00086
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397 0.00084
NM_000548.5(TSC2):c.2838-4A>G rs45517272 0.00084
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.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098 0.00077
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988 0.00077
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739 0.00076
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00071
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171 0.00067
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903 0.00067
NM_000548.5(TSC2):c.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.1609C>T (p.Arg537Cys) rs142257684 0.00054
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505 0.00054
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.5312C>T (p.Pro1771Leu) rs137854214 0.00048
NM_000548.5(TSC2):c.1839+6G>A rs45517204 0.00046
NM_000548.5(TSC2):c.2073C>T (p.Arg691=) rs45512398 0.00043
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_000548.5(TSC2):c.3610+9C>T rs45467194 0.00042
NM_000548.5(TSC2):c.138+20C>G rs45517092 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_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_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155 0.00036
NM_000548.5(TSC2):c.1512C>G (p.Val504=) rs146359990 0.00035
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205 0.00034
NM_000548.5(TSC2):c.2743-3C>A rs45517264 0.00033
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.1292C>T (p.Ala431Val) rs202187148 0.00030
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=) rs139507276 0.00029
NM_000548.5(TSC2):c.5068+9G>A rs45445593 0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_000548.5(TSC2):c.291C>G (p.Ala97=) rs137933794 0.00028
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307 0.00027
NM_000548.5(TSC2):c.1120-17C>T rs201704675 0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00026
NM_000548.5(TSC2):c.4095G>A (p.Ser1365=) rs139630605 0.00025
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995 0.00025
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met) rs397515318 0.00025
NM_000548.5(TSC2):c.1443+4C>T rs45517172 0.00024
NM_000548.5(TSC2):c.5244G>A (p.Lys1748=) rs150038278 0.00024
NM_000548.5(TSC2):c.4929C>T (p.Asn1643=) rs45517381 0.00023
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223 0.00022
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) rs137920189 0.00022
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493 0.00022
NM_000548.5(TSC2):c.4045G>A (p.Ala1349Thr) rs146239734 0.00022
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.3420C>T (p.Gly1140=) rs373968155 0.00021
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.3429C>T (p.Asp1143=) rs45487691 0.00019
NM_000548.5(TSC2):c.3892G>A (p.Val1298Met) rs147284943 0.00019
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=) rs144965811 0.00019
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895 0.00018
NM_000548.5(TSC2):c.3942C>T (p.Pro1314=) rs759988275 0.00018
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084 0.00018
NM_000548.5(TSC2):c.148A>G (p.Met50Val) rs140618379 0.00017
NM_000548.5(TSC2):c.4493+18G>A rs45454201 0.00017
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391 0.00017
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223 0.00016
NM_000548.5(TSC2):c.2356-15T>A rs189674303 0.00016
NM_000548.5(TSC2):c.2622G>A (p.Pro874=) rs141486629 0.00016
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=) rs368923127 0.00016
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295 0.00016
NM_000548.5(TSC2):c.3888C>T (p.Ser1296=) rs141252704 0.00016
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=) rs182327684 0.00016
NM_000548.5(TSC2):c.649-9C>G rs781099543 0.00016
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg) rs137854215 0.00015
NM_000548.5(TSC2):c.2743-7C>G rs566118686 0.00015
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100 0.00015
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=) rs147578602 0.00015
NM_000548.5(TSC2):c.1362-10C>T rs45446697 0.00014
NM_000548.5(TSC2):c.1947-3C>T rs201106259 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.3491C>T (p.Ala1164Val) rs45448801 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_000548.5(TSC2):c.223G>A (p.Glu75Lys) rs145470784 0.00013
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_000548.5(TSC2):c.4398G>T (p.Ser1466=) rs376086638 0.00013
NM_000548.5(TSC2):c.4447A>G (p.Arg1483Gly) rs199644840 0.00013
NM_000548.5(TSC2):c.2451C>T (p.Asp817=) rs201442542 0.00012
NM_000548.5(TSC2):c.2546-5C>T rs45517247 0.00012
NM_000548.5(TSC2):c.3611-4G>A rs368926908 0.00012
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481 0.00012
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510 0.00012
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His) rs142848358 0.00012
NM_000548.5(TSC2):c.3468A>G (p.Pro1156=) rs147242130 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.5069-21G>A rs45517390 0.00011
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=) rs367703283 0.00011
NM_000548.5(TSC2):c.*5G>A rs201342697 0.00010
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446 0.00010
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238 0.00010
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser) rs144062721 0.00010
NM_000548.5(TSC2):c.1203C>T (p.His401=) rs199665674 0.00009
NM_000548.5(TSC2):c.2743-9C>T rs397515319 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_000548.5(TSC2):c.*12T>G rs544055911 0.00008
NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu) rs45517188 0.00008
NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe) rs140772300 0.00008
NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met) rs776738338 0.00008
NM_000548.5(TSC2):c.4569+12C>T rs45517350 0.00008
NM_000548.5(TSC2):c.4662+18G>A rs45517357 0.00008
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys) rs45517126 0.00008
NM_000548.5(TSC2):c.775-4G>A rs754957491 0.00008
NM_000548.5(TSC2):c.*7G>A rs765016970 0.00007
NM_000548.5(TSC2):c.3681C>A (p.Pro1227=) rs181279399 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.4558C>T (p.Leu1520=) rs374687688 0.00007
NM_000548.5(TSC2):c.4851C>T (p.Ala1617=) rs556045045 0.00007
NM_000548.5(TSC2):c.5016C>T (p.Ile1672=) rs370770569 0.00007
NM_000548.5(TSC2):c.5334A>G (p.Ala1778=) rs371580877 0.00007
NM_000548.5(TSC2):c.619G>A (p.Val207Ile) rs139929314 0.00007
NM_000548.5(TSC2):c.630G>A (p.Ala210=) rs567756494 0.00007
NM_000548.5(TSC2):c.1341G>A (p.Ala447=) rs141609319 0.00006
NM_000548.5(TSC2):c.1946+15G>A rs752601710 0.00006
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) rs760489473 0.00006
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met) rs137854410 0.00006
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile) rs146745242 0.00006
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=) rs557648435 0.00006
NM_000548.5(TSC2):c.3358G>T (p.Val1120Leu) rs1053311636 0.00006
NM_000548.5(TSC2):c.363C>T (p.Ala121=) rs45517106 0.00006
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=) rs144891432 0.00006
NM_000548.5(TSC2):c.3883+6G>A rs757751865 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.4795G>A (p.Val1599Met) rs772687631 0.00006
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392 0.00006
NM_000548.5(TSC2):c.5265C>T (p.Cys1755=) rs141449031 0.00006
NM_000548.5(TSC2):c.5319T>C (p.His1773=) rs536518032 0.00006
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met) rs200140994 0.00006
NM_000548.5(TSC2):c.618C>T (p.Cys206=) rs45498496 0.00006
NM_000548.5(TSC2):c.648+6T>C rs372007135 0.00006
NM_000548.5(TSC2):c.708C>T (p.Leu236=) rs756121647 0.00006
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp) rs45517130 0.00006
NM_000548.5(TSC2):c.1293G>A (p.Ala431=) rs45517162 0.00005
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591 0.00005
NM_000548.5(TSC2):c.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.2584G>A (p.Ala862Thr) rs759837836 0.00005
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) rs397515046 0.00005
NM_000548.5(TSC2):c.2995A>T (p.Ser999Cys) rs777089012 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.4610T>C (p.Ile1537Thr) rs760056622 0.00005
NM_000548.5(TSC2):c.4849+12C>T rs45517373 0.00005
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=) rs142085017 0.00005
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His) rs760395277 0.00005
NM_000548.5(TSC2):c.669C>T (p.Asp223=) rs35501344 0.00005
NM_000548.5(TSC2):c.1066G>C (p.Val356Leu) rs587778728 0.00004
NM_000548.5(TSC2):c.1095C>T (p.Ile365=) rs757135168 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.1600-9T>C rs886043268 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.1981G>A (p.Gly661Ser) rs137854168 0.00004
NM_000548.5(TSC2):c.2049C>T (p.Ser683=) rs569518378 0.00004
NM_000548.5(TSC2):c.2163G>A (p.Val721=) rs552644975 0.00004
NM_000548.5(TSC2):c.2392C>T (p.His798Tyr) rs375809212 0.00004
NM_000548.5(TSC2):c.2539C>T (p.Leu847=) rs377300009 0.00004
NM_000548.5(TSC2):c.2583C>T (p.Ala861=) rs144924053 0.00004
NM_000548.5(TSC2):c.2639+10C>T rs137854378 0.00004
NM_000548.5(TSC2):c.2668C>T (p.His890Tyr) rs145258407 0.00004
NM_000548.5(TSC2):c.2742+6C>T rs377568673 0.00004
NM_000548.5(TSC2):c.2785G>A (p.Glu929Lys) rs45517268 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.292C>T (p.Arg98Trp) rs372321790 0.00004
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro) rs397515306 0.00004
NM_000548.5(TSC2):c.2967-6C>T rs200746335 0.00004
NM_000548.5(TSC2):c.3069G>A (p.Thr1023=) rs373950550 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.3275C>T (p.Pro1092Leu) rs587781774 0.00004
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His) rs369536711 0.00004
NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val) rs397514945 0.00004
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=) rs146734084 0.00004
NM_000548.5(TSC2):c.3584C>T (p.Ala1195Val) rs773951533 0.00004
NM_000548.5(TSC2):c.3611-10G>A rs372045362 0.00004
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val) rs753907159 0.00004
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile) rs201135184 0.00004
NM_000548.5(TSC2):c.3981C>T (p.Asp1327=) rs876659087 0.00004
NM_000548.5(TSC2):c.4038G>A (p.Ser1346=) rs756763596 0.00004
NM_000548.5(TSC2):c.4299G>A (p.Ser1433=) rs749358180 0.00004
NM_000548.5(TSC2):c.4332C>T (p.Pro1444=) rs373973956 0.00004
NM_000548.5(TSC2):c.4356G>A (p.Ser1452=) rs779122170 0.00004
NM_000548.5(TSC2):c.4392C>T (p.Ser1464=) rs528080018 0.00004
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=) rs758374702 0.00004
NM_000548.5(TSC2):c.465C>T (p.Tyr155=) rs45444196 0.00004
NM_000548.5(TSC2):c.4662+11G>A rs761569930 0.00004
NM_000548.5(TSC2):c.4767G>A (p.Pro1589=) rs769246304 0.00004
NM_000548.5(TSC2):c.4990-3C>T rs777928103 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.5122C>T (p.Leu1708=) rs1168265181 0.00004
NM_000548.5(TSC2):c.5130C>T (p.Phe1710=) rs760978505 0.00004
NM_000548.5(TSC2):c.5161-20C>T rs200315428 0.00004
NM_000548.5(TSC2):c.5161-4C>G rs45517406 0.00004
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu) rs749326176 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.759C>T (p.Cys253=) rs45517125 0.00004
NM_000548.5(TSC2):c.921C>G (p.His307Gln) rs878854121 0.00004
NM_000548.5(TSC2):c.975+8G>A rs137853984 0.00004
NM_000548.5(TSC2):c.989C>T (p.Pro330Leu) rs140910086 0.00004
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.1096G>A (p.Glu366Lys) rs45517148 0.00003
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu) rs45517154 0.00003
NM_000548.5(TSC2):c.1258-5G>T rs925954967 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.1600G>T (p.Val534Leu) rs587778729 0.00003
NM_000548.5(TSC2):c.1642A>C (p.Arg548=) rs565375272 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.1840-11C>G rs754804519 0.00003
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln) rs45517206 0.00003
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp) rs766451267 0.00003
NM_000548.5(TSC2):c.1987C>T (p.Leu663Phe) rs747516623 0.00003
NM_000548.5(TSC2):c.2018C>T (p.Ala673Val) rs745897413 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.2098-13C>T rs375903453 0.00003
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro) rs45517215 0.00003
NM_000548.5(TSC2):c.2220+11C>T rs372555496 0.00003
NM_000548.5(TSC2):c.2315C>T (p.Ala772Val) rs397514984 0.00003
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser) rs562945619 0.00003
NM_000548.5(TSC2):c.2511C>G (p.Ala837=) rs145351030 0.00003
NM_000548.5(TSC2):c.2873A>G (p.Asn958Ser) rs397515104 0.00003
NM_000548.5(TSC2):c.297C>T (p.His99=) rs752498350 0.00003
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753 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.3281C>G (p.Ser1094Trp) rs397514887 0.00003
NM_000548.5(TSC2):c.336+14C>T rs570065416 0.00003
NM_000548.5(TSC2):c.3413G>A (p.Arg1138Gln) rs143168379 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.3600G>A (p.Arg1200=) rs1410559096 0.00003
NM_000548.5(TSC2):c.3663G>A (p.Ser1221=) rs137854268 0.00003
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=) rs749057825 0.00003
NM_000548.5(TSC2):c.4167C>T (p.Pro1389=) rs45508504 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.4446C>T (p.Ser1482=) rs780955293 0.00003
NM_000548.5(TSC2):c.450G>A (p.Gly150=) rs372000734 0.00003
NM_000548.5(TSC2):c.4549C>A (p.Pro1517Thr) rs1057522800 0.00003
NM_000548.5(TSC2):c.454C>G (p.His152Asp) rs397515285 0.00003
NM_000548.5(TSC2):c.4602C>T (p.Leu1534=) rs368534883 0.00003
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=) rs397515103 0.00003
NM_000548.5(TSC2):c.4849+4C>T rs370426490 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.4960G>A (p.Gly1654Ser) rs771911660 0.00003
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile) rs45490993 0.00003
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp) rs1200837034 0.00003
NM_000548.5(TSC2):c.5068+8C>T rs747827911 0.00003
NM_000548.5(TSC2):c.5161-5C>A rs775534948 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.5418T>G (p.Phe1806Leu) rs200004126 0.00003
NM_000548.5(TSC2):c.583A>G (p.Ile195Val) rs148325559 0.00003
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr) rs45517113 0.00003
NM_000548.5(TSC2):c.627C>T (p.Thr209=) rs776293094 0.00003
NM_000548.5(TSC2):c.672C>T (p.Ala224=) rs138897064 0.00003
NM_000548.5(TSC2):c.673G>A (p.Val225Met) rs142919353 0.00003
NM_000548.5(TSC2):c.711G>A (p.Pro237=) rs189380607 0.00003
NM_000548.5(TSC2):c.775-5C>T rs181827303 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.922C>T (p.Arg308Trp) rs201144475 0.00003
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.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.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.1916G>A (p.Arg639Gln) rs753932484 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.2074G>A (p.Val692Ile) rs201769220 0.00002
NM_000548.5(TSC2):c.2098-18C>T rs1246072517 0.00002
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile) rs767770242 0.00002
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln) rs766442736 0.00002
NM_000548.5(TSC2):c.226-13C>T rs886038353 0.00002
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val) rs886042145 0.00002
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys) rs767252128 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.2412C>T (p.Cys804=) rs763123951 0.00002
NM_000548.5(TSC2):c.2457C>T (p.Ile819=) rs753410949 0.00002
NM_000548.5(TSC2):c.2534A>G (p.Glu845Gly) rs764608837 0.00002
NM_000548.5(TSC2):c.2628C>T (p.Thr876=) rs778678783 0.00002
NM_000548.5(TSC2):c.2673C>T (p.His891=) rs373866604 0.00002
NM_000548.5(TSC2):c.2694C>T (p.Ile898=) rs200360213 0.00002
NM_000548.5(TSC2):c.270G>A (p.Gln90=) rs779310889 0.00002
NM_000548.5(TSC2):c.2916C>A (p.Ala972=) rs751474097 0.00002
NM_000548.5(TSC2):c.2948C>G (p.Ser983Cys) rs759786102 0.00002
NM_000548.5(TSC2):c.2962C>T (p.Arg988Cys) rs763047420 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.3380G>A (p.Arg1127Gln) rs746197874 0.00002
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=) rs749633483 0.00002
NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu) rs778069675 0.00002
NM_000548.5(TSC2):c.3520C>T (p.Arg1174Trp) rs529298825 0.00002
NM_000548.5(TSC2):c.3526C>T (p.Pro1176Ser) rs1326077397 0.00002
NM_000548.5(TSC2):c.354C>G (p.Val118=) rs762228318 0.00002
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val) rs1060500939 0.00002
NM_000548.5(TSC2):c.3730C>T (p.His1244Tyr) rs993614997 0.00002
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg) rs767059758 0.00002
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=) rs201599540 0.00002
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys) rs1020561347 0.00002
NM_000548.5(TSC2):c.3815-3C>T rs770054036 0.00002
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val) rs749367382 0.00002
NM_000548.5(TSC2):c.3885C>T (p.Asp1295=) rs766771526 0.00002
NM_000548.5(TSC2):c.3957C>T (p.Asp1319=) rs757244510 0.00002
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209 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.4180C>T (p.Leu1394=) rs911307922 0.00002
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=) rs886051794 0.00002
NM_000548.5(TSC2):c.4253C>T (p.Ser1418Leu) rs369164761 0.00002
NM_000548.5(TSC2):c.4298C>T (p.Ser1433Leu) rs45517335 0.00002
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) rs45517338 0.00002
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu) rs45517339 0.00002
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg) rs1219556604 0.00002
NM_000548.5(TSC2):c.4552A>G (p.Ile1518Val) rs764903148 0.00002
NM_000548.5(TSC2):c.4599C>T (p.Leu1533=) rs768431568 0.00002
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=) rs151140709 0.00002
NM_000548.5(TSC2):c.4956C>T (p.Asp1652=) rs1376515823 0.00002
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val) rs374066182 0.00002
NM_000548.5(TSC2):c.5154C>T (p.His1718=) rs370338085 0.00002
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys) rs781630603 0.00002
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His) rs373365980 0.00002
NM_000548.5(TSC2):c.5274C>T (p.Ala1758=) rs752945858 0.00002
NM_000548.5(TSC2):c.5275G>A (p.Ala1759Thr) rs758450326 0.00002
NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala) rs777006583 0.00002
NM_000548.5(TSC2):c.5347G>A (p.Glu1783Lys) rs777166275 0.00002
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser) rs45505405 0.00002
NM_000548.5(TSC2):c.721G>A (p.Val241Ile) rs200943828 0.00002
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123 0.00002
NM_000548.5(TSC2):c.945G>A (p.Ser315=) rs763948768 0.00002
NM_000548.5(TSC2):c.*4C>T rs368282661 0.00001
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) rs397515146 0.00001
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483 0.00001
NM_000548.5(TSC2):c.1099C>T (p.Arg367Trp) rs757844109 0.00001
NM_000548.5(TSC2):c.1122C>G (p.Thr374=) rs1555500988 0.00001
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile) rs758511419 0.00001
NM_000548.5(TSC2):c.1186G>A (p.Asp396Asn) rs1596303501 0.00001
NM_000548.5(TSC2):c.1194C>T (p.Asn398=) rs369172347 0.00001
NM_000548.5(TSC2):c.1257+20G>A rs1436234038 0.00001
NM_000548.5(TSC2):c.1258-18C>T rs778741704 0.00001
NM_000548.5(TSC2):c.1273A>T (p.Asn425Tyr) rs1186443300 0.00001
NM_000548.5(TSC2):c.1342C>G (p.Leu448Val) rs1413875392 0.00001
NM_000548.5(TSC2):c.1352G>A (p.Arg451Lys) rs749780677 0.00001
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys) rs397515142 0.00001
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077 0.00001
NM_000548.5(TSC2):c.1380C>T (p.Ala460=) rs1060504113 0.00001
NM_000548.5(TSC2):c.1398G>A (p.Leu466=) rs200702857 0.00001
NM_000548.5(TSC2):c.1423A>G (p.Ile475Val) rs1196710568 0.00001
NM_000548.5(TSC2):c.1440T>C (p.Tyr480=) rs45514794 0.00001
NM_000548.5(TSC2):c.1450C>T (p.Leu484=) rs2087007486 0.00001
NM_000548.5(TSC2):c.1463T>C (p.Val488Ala) rs760205499 0.00001
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys) rs45517178 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.1562C>G (p.Thr521Arg) rs1378972928 0.00001
NM_000548.5(TSC2):c.1584G>A (p.Leu528=) rs1478821497 0.00001
NM_000548.5(TSC2):c.1596G>A (p.Glu532=) rs756466484 0.00001
NM_000548.5(TSC2):c.1610G>A (p.Arg537His) rs372681603 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.1653C>T (p.Ala551=) rs202171361 0.00001
NM_000548.5(TSC2):c.1654G>A (p.Ala552Thr) rs777121421 0.00001
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu) rs45471596 0.00001
NM_000548.5(TSC2):c.1676A>T (p.Asp559Val) rs767619776 0.00001
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268 0.00001
NM_000548.5(TSC2):c.169C>T (p.Arg57Cys) rs1430159201 0.00001
NM_000548.5(TSC2):c.170G>A (p.Arg57His) rs397514949 0.00001
NM_000548.5(TSC2):c.1717-6C>T rs1596335934 0.00001
NM_000548.5(TSC2):c.1718C>T (p.Thr573Ile) rs773304374 0.00001
NM_000548.5(TSC2):c.1748C>T (p.Ala583Val) rs763863196 0.00001
NM_000548.5(TSC2):c.175C>T (p.Arg59Trp) rs1015282988 0.00001
NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly) rs910068556 0.00001
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=) rs45509094 0.00001
NM_000548.5(TSC2):c.1840-13C>T rs1186556063 0.00001
NM_000548.5(TSC2):c.1911C>T (p.Val637=) rs543584836 0.00001
NM_000548.5(TSC2):c.1932C>T (p.Cys644=) rs777665839 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+6C>T rs754069880 0.00001
NM_000548.5(TSC2):c.1947-9C>T rs747475590 0.00001
NM_000548.5(TSC2):c.1952C>T (p.Pro651Leu) rs1300730043 0.00001
NM_000548.5(TSC2):c.1983C>T (p.Gly661=) rs1270679683 0.00001
NM_000548.5(TSC2):c.2014C>T (p.Pro672Ser) rs1262368552 0.00001
NM_000548.5(TSC2):c.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.2097+5G>C rs977777731 0.00001
NM_000548.5(TSC2):c.2098-12C>G rs1460403520 0.00001
NM_000548.5(TSC2):c.2128C>T (p.Leu710=) rs1225700612 0.00001
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn) rs766200310 0.00001
NM_000548.5(TSC2):c.2219T>C (p.Met740Thr) rs757347786 0.00001
NM_000548.5(TSC2):c.2245C>T (p.Arg749Trp) rs377397369 0.00001
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln) rs749593050 0.00001
NM_000548.5(TSC2):c.2256C>T (p.Gly752=) rs778981034 0.00001
NM_000548.5(TSC2):c.2273C>G (p.Ser758Cys) rs45517223 0.00001
NM_000548.5(TSC2):c.2287C>T (p.His763Tyr) rs758234726 0.00001
NM_000548.5(TSC2):c.2297T>C (p.Val766Ala) rs780682938 0.00001
NM_000548.5(TSC2):c.229G>A (p.Ala77Thr) rs777459404 0.00001
NM_000548.5(TSC2):c.2322C>T (p.Ile774=) rs760885994 0.00001
NM_000548.5(TSC2):c.2330A>G (p.His777Arg) rs759528809 0.00001
NM_000548.5(TSC2):c.2331T>C (p.His777=) rs139963953 0.00001
NM_000548.5(TSC2):c.2356-4G>A rs201156748 0.00001
NM_000548.5(TSC2):c.2357G>A (p.Arg786His) rs796053511 0.00001
NM_000548.5(TSC2):c.2366T>C (p.Val789Ala) rs748669016 0.00001
NM_000548.5(TSC2):c.2395C>T (p.Arg799Cys) rs1366556255 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.2484G>A (p.Val828=) rs780395534 0.00001
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala) rs781713438 0.00001
NM_000548.5(TSC2):c.2546-10A>G rs551894111 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.256G>A (p.Ala86Thr) rs1190158836 0.00001
NM_000548.5(TSC2):c.257C>T (p.Ala86Val) rs1369594860 0.00001
NM_000548.5(TSC2):c.2586G>A (p.Ala862=) rs752865665 0.00001
NM_000548.5(TSC2):c.2592G>C (p.Gln864His) rs763099064 0.00001
NM_000548.5(TSC2):c.2610C>T (p.Ala870=) rs755870234 0.00001
NM_000548.5(TSC2):c.2631C>T (p.Asn877=) rs45517251 0.00001
NM_000548.5(TSC2):c.2640-10C>G rs964883731 0.00001
NM_000548.5(TSC2):c.2681C>T (p.Ala894Val) rs777282955 0.00001
NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys) rs796053512 0.00001
NM_000548.5(TSC2):c.2719G>T (p.Asp907Tyr) rs1287273870 0.00001
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys) rs774758044 0.00001
NM_000548.5(TSC2):c.273G>A (p.Pro91=) rs772296140 0.00001
NM_000548.5(TSC2):c.2743-4C>T rs1258692002 0.00001
NM_000548.5(TSC2):c.2748G>A (p.Leu916=) rs757674443 0.00001
NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser) rs780057014 0.00001
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val) rs201835391 0.00001
NM_000548.5(TSC2):c.2768C>G (p.Ser923Cys) rs587778731 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.2823C>T (p.Asn941=) rs750806272 0.00001
NM_000548.5(TSC2):c.2837+4C>T rs544409858 0.00001
NM_000548.5(TSC2):c.2838-16C>T rs778996893 0.00001
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu) rs370415754 0.00001
NM_000548.5(TSC2):c.2886C>T (p.Pro962=) rs140202176 0.00001
NM_000548.5(TSC2):c.2901G>T (p.Lys967Asn) rs1168031047 0.00001
NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys) rs780981335 0.00001
NM_000548.5(TSC2):c.2932C>T (p.Arg978Cys) rs768241596 0.00001
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln) rs1478204355 0.00001
NM_000548.5(TSC2):c.2954A>G (p.His985Arg) rs1330306605 0.00001
NM_000548.5(TSC2):c.2961C>G (p.Val987=) rs775637322 0.00001
NM_000548.5(TSC2):c.2967-13C>T rs536150612 0.00001
NM_000548.5(TSC2):c.2998T>C (p.Leu1000=) rs756679047 0.00001
NM_000548.5(TSC2):c.301G>A (p.Val101Met) rs878854089 0.00001
NM_000548.5(TSC2):c.3054C>T (p.Leu1018=) rs762570079 0.00001
NM_000548.5(TSC2):c.3119C>T (p.Ala1040Val) rs2089807202 0.00001
NM_000548.5(TSC2):c.3132-13C>T rs371948435 0.00001
NM_000548.5(TSC2):c.3165C>T (p.Gly1055=) rs1215210783 0.00001
NM_000548.5(TSC2):c.3209C>T (p.Thr1070Met) rs147989574 0.00001
NM_000548.5(TSC2):c.324C>T (p.Ile108=) rs973500815 0.00001
NM_000548.5(TSC2):c.327G>A (p.Val109=) rs754348511 0.00001
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu) rs773545852 0.00001
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=) rs150126331 0.00001
NM_000548.5(TSC2):c.3297G>C (p.Gly1099=) rs138459325 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.3366T>C (p.Arg1122=) rs778352969 0.00001
NM_000548.5(TSC2):c.337-3T>C rs770515822 0.00001
NM_000548.5(TSC2):c.3373C>T (p.Arg1125Trp) rs747420910 0.00001
NM_000548.5(TSC2):c.3374G>A (p.Arg1125Gln) rs796053475 0.00001
NM_000548.5(TSC2):c.3386G>A (p.Arg1129His) rs1412967226 0.00001
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val) rs775639244 0.00001
NM_000548.5(TSC2):c.3395C>T (p.Ser1132Leu) rs137854074 0.00001
NM_000548.5(TSC2):c.3397+15C>T rs202246408 0.00001
NM_000548.5(TSC2):c.3397+7C>T rs767531844 0.00001
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu) rs397515162 0.00001
NM_000548.5(TSC2):c.3472C>G (p.Pro1158Ala) rs759350468 0.00001
NM_000548.5(TSC2):c.3484C>T (p.Pro1162Ser) rs895935495 0.00001
NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln) rs368666554 0.00001
NM_000548.5(TSC2):c.352G>T (p.Val118Phe) rs878854094 0.00001
NM_000548.5(TSC2):c.3532C>G (p.Gln1178Glu) rs45517297 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.3598C>T (p.Arg1200Trp) rs45438205 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.3675C>T (p.Asn1225=) rs1483188996 0.00001
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=) rs754945653 0.00001
NM_000548.5(TSC2):c.3759G>A (p.Leu1253=) rs878854095 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.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.3799C>T (p.Pro1267Ser) rs757010959 0.00001
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) rs200577441 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.381C>G (p.Ile127Met) rs2085502591 0.00001
NM_000548.5(TSC2):c.3884-8C>G rs397515219 0.00001
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) rs368712041 0.00001
NM_000548.5(TSC2):c.3939G>T (p.Glu1313Asp) rs149340262 0.00001
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn) rs375883030 0.00001
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile) rs767495365 0.00001
NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe) rs200411484 0.00001
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) rs201979616 0.00001
NM_000548.5(TSC2):c.4176G>A (p.Gln1392=) rs749930791 0.00001
NM_000548.5(TSC2):c.4192C>G (p.Leu1398Val) rs1060500928 0.00001
NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser) rs778147657 0.00001
NM_000548.5(TSC2):c.4232G>A (p.Ser1411Asn) rs1267811475 0.00001
NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg) rs562443546 0.00001
NM_000548.5(TSC2):c.4257G>C (p.Gln1419His) rs1403321543 0.00001
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=) rs1285012780 0.00001
NM_000548.5(TSC2):c.4262G>A (p.Gly1421Glu) rs1368001965 0.00001
NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg) rs763497329 0.00001
NM_000548.5(TSC2):c.4282G>A (p.Ala1428Thr) rs764533757 0.00001
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val) rs757579310 0.00001
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=) rs536527623 0.00001
NM_000548.5(TSC2):c.4348C>G (p.Pro1450Ala) rs376381196 0.00001
NM_000548.5(TSC2):c.4372C>A (p.Pro1458Thr) rs1189784704 0.00001
NM_000548.5(TSC2):c.4385C>G (p.Thr1462Ser) rs373018205 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.4436C>T (p.Ala1479Val) rs397515242 0.00001
NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr) rs370114027 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.4494-12C>T rs780056359 0.00001
NM_000548.5(TSC2):c.4497C>T (p.Phe1499=) rs372974007 0.00001
NM_000548.5(TSC2):c.4516C>T (p.His1506Tyr) rs1173459869 0.00001
NM_000548.5(TSC2):c.4534G>A (p.Asp1512Asn) rs774441486 0.00001
NM_000548.5(TSC2):c.4557G>T (p.Leu1519=) rs1260508226 0.00001
NM_000548.5(TSC2):c.4569+6C>T rs756614796 0.00001
NM_000548.5(TSC2):c.4570-1G>A rs777985056 0.00001
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn) rs796872464 0.00001
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile) rs745895675 0.00001
NM_000548.5(TSC2):c.4697A>G (p.His1566Arg) rs1448001502 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.4738C>T (p.Arg1580Trp) rs777592623 0.00001
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=) rs751305758 0.00001
NM_000548.5(TSC2):c.481+9C>T rs201026150 0.00001
NM_000548.5(TSC2):c.482-4C>T rs780938957 0.00001
NM_000548.5(TSC2):c.4824C>T (p.Tyr1608=) rs1422829075 0.00001
NM_000548.5(TSC2):c.4833C>T (p.His1611=) rs765271161 0.00001
NM_000548.5(TSC2):c.4850-10T>A rs1238997365 0.00001
NM_000548.5(TSC2):c.4850-8A>G rs372258482 0.00001
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) rs886051796 0.00001
NM_000548.5(TSC2):c.4914G>A (p.Lys1638=) rs137854094 0.00001
NM_000548.5(TSC2):c.4915C>T (p.Arg1639Cys) rs1555438551 0.00001
NM_000548.5(TSC2):c.4961G>T (p.Gly1654Val) rs1555438692 0.00001
NM_000548.5(TSC2):c.4998C>A (p.Phe1666Leu) rs757221445 0.00001
NM_000548.5(TSC2):c.5021C>T (p.Thr1674Ile) rs1555439727 0.00001
NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn) rs1163037065 0.00001
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=) rs876658185 0.00001
NM_000548.5(TSC2):c.5039G>A (p.Cys1680Tyr) rs150558493 0.00001
NM_000548.5(TSC2):c.5058G>A (p.Gln1686=) rs200700923 0.00001
NM_000548.5(TSC2):c.5069-11A>G rs562381623 0.00001
NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr) rs45474691 0.00001
NM_000548.5(TSC2):c.5120A>G (p.Asn1707Ser) rs772439098 0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
NM_000548.5(TSC2):c.5144T>C (p.Met1715Thr) rs758246234 0.00001
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr) rs201206500 0.00001
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val) rs45517407 0.00001
NM_000548.5(TSC2):c.5191A>G (p.Asn1731Asp) rs1555440500 0.00001
NM_000548.5(TSC2):c.5196C>T (p.Pro1732=) rs910514279 0.00001
NM_000548.5(TSC2):c.5208C>T (p.Tyr1736=) rs45517410 0.00001
NM_000548.5(TSC2):c.5209C>T (p.Pro1737Ser) rs780112037 0.00001
NM_000548.5(TSC2):c.5211C>A (p.Pro1737=) rs151298910 0.00001
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val) rs140526185 0.00001
NM_000548.5(TSC2):c.5232C>T (p.Leu1744=) rs772865175 0.00001
NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys) rs760413281 0.00001
NM_000548.5(TSC2):c.5238C>T (p.His1746=) rs1060504084 0.00001
NM_000548.5(TSC2):c.5245C>T (p.Arg1749Trp) rs1193817827 0.00001
NM_000548.5(TSC2):c.5260-13C>T rs1413775764 0.00001
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn) rs138831802 0.00001
NM_000548.5(TSC2):c.5296C>T (p.Pro1766Ser) rs779621136 0.00001
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg) rs45517418 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.5363A>G (p.Tyr1788Cys) rs397515221 0.00001
NM_000548.5(TSC2):c.5370G>C (p.Val1790=) rs762032752 0.00001
NM_000548.5(TSC2):c.5377C>T (p.Arg1793Trp) rs1473538868 0.00001
NM_000548.5(TSC2):c.576C>T (p.Asp192=) rs761704292 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.643A>G (p.Ile215Val) rs1293515155 0.00001
NM_000548.5(TSC2):c.649-18C>T rs771537061 0.00001
NM_000548.5(TSC2):c.686A>G (p.Asn229Ser) rs1555498800 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.720C>T (p.Ile240=) rs45517123 0.00001
NM_000548.5(TSC2):c.733C>T (p.Arg245Cys) rs375574283 0.00001
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser) rs762104739 0.00001
NM_000548.5(TSC2):c.775-12T>C rs753920940 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.821A>G (p.Tyr274Cys) rs1305592691 0.00001
NM_000548.5(TSC2):c.837C>T (p.Leu279=) rs746694709 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.867G>A (p.Ala289=) rs375163125 0.00001
NM_000548.5(TSC2):c.886G>A (p.Val296Met) rs747237113 0.00001
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser) rs747310967 0.00001
NM_000548.5(TSC2):c.932C>G (p.Ser311Cys) rs1475672414 0.00001
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu) rs202082319 0.00001
NM_000548.5(TSC2):c.947C>A (p.Pro316Gln) rs751490043 0.00001
NM_000548.5(TSC2):c.976-10C>T rs765990217 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
GRCh37/hg19 16p13.3(chr16:2098168-2100457)x1
GRCh37/hg19 16p13.3(chr16:2114273-2122984)x1
NM_000548.3(TSC2):c.4572_4577dupACAGTC
NM_000548.4(TSC2):c.-141G>C
NM_000548.4(TSC2):c.1600_1716del (p.Val534_Gln572del)
NM_000548.5(TSC2):c.*55TAAA[1] rs137854184
NM_000548.5(TSC2):c.*61_*62del rs36032671
NM_000548.5(TSC2):c.-29-10G>C rs28537973
NM_000548.5(TSC2):c.1024A>T (p.Ile342Phe) rs1060500913
NM_000548.5(TSC2):c.102A>C (p.Lys34Asn)
NM_000548.5(TSC2):c.1032G>A (p.Arg344=) rs1057524033
NM_000548.5(TSC2):c.1034T>G (p.Leu345Arg) rs45451295
NM_000548.5(TSC2):c.1049G>A (p.Arg350Lys) rs1567423240
NM_000548.5(TSC2):c.1057_1059delinsTTT (p.Leu353Phe)
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter) rs45469896
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro) rs137854345
NM_000548.5(TSC2):c.1094T>C (p.Ile365Thr)
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.1096_1116del (p.Glu366_Leu372del) rs1085307591
NM_000548.5(TSC2):c.1101G>C (p.Arg367=) rs45517149
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter) rs45469099
NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro) rs1060500919
NM_000548.5(TSC2):c.1119+2T>C rs137854173
NM_000548.5(TSC2):c.1119+6_1119+28del rs1358834036
NM_000548.5(TSC2):c.1119G>C (p.Gln373His) rs1057523727
NM_000548.5(TSC2):c.1131C>G (p.Ser377Arg) rs201525586
NM_000548.5(TSC2):c.1133C>G (p.Pro378Arg) rs45517154
NM_000548.5(TSC2):c.1134G>A (p.Pro378=) rs754343186
NM_000548.5(TSC2):c.113_114dup (p.Ile39fs) rs137854355
NM_000548.5(TSC2):c.1152_1162del (p.His385fs)
NM_000548.5(TSC2):c.1163_1164insACA (p.Leu388_Thr389insGln) rs2151155078
NM_000548.5(TSC2):c.1172_1174del (p.Val391del) rs1567428371
NM_000548.5(TSC2):c.1194del (p.Asn398fs) rs886039736
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys) rs773920155
NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter) rs773920155
NM_000548.5(TSC2):c.11dup (p.Thr5fs) rs1596233685
NM_000548.5(TSC2):c.1202A>G (p.His401Arg) rs2086691569
NM_000548.5(TSC2):c.1204G>T (p.Gly402Trp) rs771561593
NM_000548.5(TSC2):c.1205G>T (p.Gly402Val) rs777172185
NM_000548.5(TSC2):c.1206del (p.Ser403fs) rs2151155973
NM_000548.5(TSC2):c.1217G>A (p.Arg406Lys) rs2086693907
NM_000548.5(TSC2):c.1220_1240del (p.Tyr407_Arg413del) rs137853998
NM_000548.5(TSC2):c.1229T>C (p.Leu410Pro) rs137854298
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.1240T>A (p.Cys414Ser) rs1057523509
NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly) rs1057523509
NM_000548.5(TSC2):c.1256C>T (p.Pro419Leu) rs1237876686
NM_000548.5(TSC2):c.1257+10C>G rs756063576
NM_000548.5(TSC2):c.1257+2T>G rs45509697
NM_000548.5(TSC2):c.1258-10C>G rs794727093
NM_000548.5(TSC2):c.1258-10_1258-8del rs767749967
NM_000548.5(TSC2):c.1258-8T>G rs1175574879
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter) rs796053484
NM_000548.5(TSC2):c.1260G>A (p.Glu420=) rs876658585
NM_000548.5(TSC2):c.1265C>T (p.Ser422Phe) rs2151163315
NM_000548.5(TSC2):c.126G>A (p.Ala42=) rs886043548
NM_000548.5(TSC2):c.1275C>T (p.Asn425=) rs878854076
NM_000548.5(TSC2):c.127G>A (p.Glu43Lys) rs2084685904
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1287T>A (p.Tyr429Ter) rs45493394
NM_000548.5(TSC2):c.1298C>T (p.Ser433Phe) rs397515187
NM_000548.5(TSC2):c.1307C>A (p.Pro436Gln) rs796053485
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu) rs796053485
NM_000548.5(TSC2):c.1308G>C (p.Pro436=) rs753764275
NM_000548.5(TSC2):c.1308G>T (p.Pro436=) rs753764275
NM_000548.5(TSC2):c.1310C>T (p.Ala437Val)
NM_000548.5(TSC2):c.1311C>A (p.Ala437=) rs752435039
NM_000548.5(TSC2):c.1316A>G (p.Asp439Gly)
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu) rs777457815
NM_000548.5(TSC2):c.131_132del (p.Ile44fs) rs1064793853
NM_000548.5(TSC2):c.132A>G (p.Ile44Met) rs796053508
NM_000548.5(TSC2):c.132dup (p.Leu45fs) rs2150973810
NM_000548.5(TSC2):c.1332C>A (p.Asn444Lys)
NM_000548.5(TSC2):c.133_136del (p.Leu45fs) rs137854360
NM_000548.5(TSC2):c.1346T>A (p.Met449Lys) rs1057520875
NM_000548.5(TSC2):c.134_138+1delinsC rs1057518535
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.1361+1G>A rs45517164
NM_000548.5(TSC2):c.1361+1G>T rs45517164
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1362-4G>A rs397515145
NM_000548.5(TSC2):c.1362G>C (p.Arg454Ser) rs374252944
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.138+2T>C rs137854226
NM_000548.5(TSC2):c.138+5G>A rs45481400
NM_000548.5(TSC2):c.1381G>A (p.Val461Met) rs796053486
NM_000548.5(TSC2):c.1382T>C (p.Val461Ala) rs2086823656
NM_000548.5(TSC2):c.1384C>G (p.Arg462Gly) rs397515261
NM_000548.5(TSC2):c.1385G>A (p.Arg462His) rs45494392
NM_000548.5(TSC2):c.1386dup (p.Ile463fs) rs1596307300
NM_000548.5(TSC2):c.138_138+1del rs137854117
NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg) rs45481199
NM_000548.5(TSC2):c.139G>T (p.Glu47Ter) rs1555495676
NM_000548.5(TSC2):c.1418T>C (p.Leu473Pro) rs2086830486
NM_000548.5(TSC2):c.1419G>T (p.Leu473=)
NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter) rs121964862
NM_000548.5(TSC2):c.1433A>G (p.Gln478Arg) rs1555501733
NM_000548.5(TSC2):c.1439_1440del (p.Phe479_Tyr480insTer)
NM_000548.5(TSC2):c.1443+2T>A rs397515064
NM_000548.5(TSC2):c.1443+4_1443+5delinsGT
NM_000548.5(TSC2):c.1443+5G>A rs1057521562
NM_000548.5(TSC2):c.1443+5G>C rs1057521562
NM_000548.5(TSC2):c.1443+65T>G rs115599333
NM_000548.5(TSC2):c.1444-201G>A rs60763712
NM_000548.5(TSC2):c.1444-2A>G rs45517174
NM_000548.5(TSC2):c.1444G>C (p.Glu482Gln) rs1308965961
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys) rs200532154
NM_000548.5(TSC2):c.1470C>A (p.Ile490=) rs753344988
NM_000548.5(TSC2):c.1477C>T (p.Leu493Phe) rs45517177
NM_000548.5(TSC2):c.1479C>T (p.Leu493=) rs137854145
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe) rs751984707
NM_000548.5(TSC2):c.1485C>T (p.His495=) rs2151189170
NM_000548.5(TSC2):c.149T>C (p.Met50Thr) rs1060500955
NM_000548.5(TSC2):c.1502A>T (p.Asp501Val) rs2151189595
NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter) rs397514929
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1526C>G (p.Thr509Ser) rs2151190252
NM_000548.5(TSC2):c.1528C>T (p.Gln510Ter)
NM_000548.5(TSC2):c.1535_1557del (p.Leu512fs) rs796053503
NM_000548.5(TSC2):c.1563dup (p.His522fs) rs137854023
NM_000548.5(TSC2):c.1564CAC[1] (p.His523del) rs2087028639
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn) rs376573446
NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro) rs397514922
NM_000548.5(TSC2):c.1585G>T (p.Asp529Tyr) rs1567438280
NM_000548.5(TSC2):c.1589T>C (p.Ile530Thr) rs2151191974
NM_000548.5(TSC2):c.1593C>G (p.Ile531Met) rs45517180
NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys) rs149222396
NM_000548.5(TSC2):c.1594G>C (p.Glu532Gln) rs149222396
NM_000548.5(TSC2):c.1599+1G>A rs45517182
NM_000548.5(TSC2):c.1599+270CTGGGG[3] rs139950082
NM_000548.5(TSC2):c.1599+82_1599+84del rs397515135
NM_000548.5(TSC2):c.1600-11T>G rs2151205759
NM_000548.5(TSC2):c.1600-14C>T rs45517185
NM_000548.5(TSC2):c.1600-83dup rs369052665
NM_000548.5(TSC2):c.1600-84_1600-83del rs369052665
NM_000548.5(TSC2):c.1600-85_1600-83del rs369052665
NM_000548.5(TSC2):c.1600-97_1600-83del rs369052665
NM_000548.5(TSC2):c.1610_1617dup (p.Ser540fs) rs2087224465
NM_000548.5(TSC2):c.1621C>T (p.Pro541Ser) rs1596317209
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.1646A>G (p.Asp549Gly) rs1170792905
NM_000548.5(TSC2):c.1652C>T (p.Ala551Val) rs1465307943
NM_000548.5(TSC2):c.1675G>T (p.Asp559Tyr) rs1555503254
NM_000548.5(TSC2):c.1716+1G>A rs45517190
NM_000548.5(TSC2):c.1716+1G>T rs45517190
NM_000548.5(TSC2):c.1716+263G>A
NM_000548.5(TSC2):c.1717-12CT[2] rs769094940
NM_000548.5(TSC2):c.1717-12CT[3] rs769094940
NM_000548.5(TSC2):c.1720A>T (p.Lys574Ter) rs2088115626
NM_000548.5(TSC2):c.1721A>G (p.Lys574Arg) rs1060500926
NM_000548.5(TSC2):c.1724T>C (p.Leu575Pro) rs1567456901
NM_000548.5(TSC2):c.1724_1735del (p.Leu575_Leu578del) rs1596336046
NM_000548.5(TSC2):c.1728C>G (p.Tyr576Ter)
NM_000548.5(TSC2):c.1729A>G (p.Thr577Ala) rs1204749633
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala) rs45517196
NM_000548.5(TSC2):c.1743C>G (p.Ser581Arg)
NM_000548.5(TSC2):c.1746C>T (p.His582=) rs876658921
NM_000548.5(TSC2):c.1758_1759del (p.Val586_Tyr587insTer) rs397515116
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer) rs137854371
NM_000548.5(TSC2):c.1761T>G (p.Tyr587Ter) rs753179817
NM_000548.5(TSC2):c.1763A>G (p.Glu588Gly)
NM_000548.5(TSC2):c.1766T>A (p.Met589Lys) rs796053487
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.1787T>C (p.Leu596Pro) rs45517200
NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter) rs45509094
NM_000548.5(TSC2):c.1796A>G (p.Lys599Arg) rs45517202
NM_000548.5(TSC2):c.1806C>G (p.Tyr602Ter) rs367553206
NM_000548.5(TSC2):c.1813C>T (p.Pro605Ser) rs1295352648
NM_000548.5(TSC2):c.1816A>T (p.Ile606Phe)
NM_000548.5(TSC2):c.1817del (p.Ile606fs)
NM_000548.5(TSC2):c.1818C>G (p.Ile606Met) rs547389841
NM_000548.5(TSC2):c.1825A>G (p.Ser609Gly) rs2151281861
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.1838A>G (p.Gln613Arg) rs2151282389
NM_000548.5(TSC2):c.1839+1G>T rs45438400
NM_000548.5(TSC2):c.1839+269G>A rs116085243
NM_000548.5(TSC2):c.1840-2A>C rs45517205
NM_000548.5(TSC2):c.1840-2_1841delinsTTTTGA rs1555505742
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.1866G>A (p.Arg622=) rs1397060903
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.1871A>C (p.Asp624Ala) rs2151296839
NM_000548.5(TSC2):c.1875_1876del (p.Leu626fs) rs397515073
NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly) rs45437797
NM_000548.5(TSC2):c.1883G>C (p.Arg628Pro) rs774895427
NM_000548.5(TSC2):c.1884C>T (p.Arg628=) rs1225653495
NM_000548.5(TSC2):c.1885C>T (p.Leu629=) rs570409651
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp) rs1057520642
NM_000548.5(TSC2):c.1925C>A (p.Pro642His) rs1408228669
NM_000548.5(TSC2):c.1926C>T (p.Pro642=) rs778765636
NM_000548.5(TSC2):c.1929C>G (p.Tyr643Ter) rs368710573
NM_000548.5(TSC2):c.1930T>G (p.Cys644Gly) rs1567462577
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile) rs746677177
NM_000548.5(TSC2):c.1933G>C (p.Val645Leu) rs746677177
NM_000548.5(TSC2):c.1933G>T (p.Val645Phe) rs746677177
NM_000548.5(TSC2):c.1938C>A (p.Cys646Ter) rs745414854
NM_000548.5(TSC2):c.1940A>C (p.Asp647Ala) rs2151299187
NM_000548.5(TSC2):c.1946+1G>A rs397514994
NM_000548.5(TSC2):c.1946+1G>T rs397514994
NM_000548.5(TSC2):c.1946+2T>A rs397515247
NM_000548.5(TSC2):c.1946+2T>C rs397515247
NM_000548.5(TSC2):c.1954G>T (p.Glu652Ter) rs1555505954
NM_000548.5(TSC2):c.1957A>T (p.Arg653Ter) rs764225717
NM_000548.5(TSC2):c.1959_1960del (p.Gly654fs) rs137854144
NM_000548.5(TSC2):c.1967AGA[2] (p.Lys658del) rs137854104
NM_000548.5(TSC2):c.1971G>C (p.Lys657Asn) rs1596344117
NM_000548.5(TSC2):c.1979G>A (p.Ser660Asn) rs754504918
NM_000548.5(TSC2):c.1980C>T (p.Ser660=) rs959705365
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.1987C>G (p.Leu663Val) rs747516623
NM_000548.5(TSC2):c.1987_1988del (p.Leu663fs) rs1596344279
NM_000548.5(TSC2):c.2001A>G (p.Thr667=) rs1412129753
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu) rs794727221
NM_000548.5(TSC2):c.2014C>G (p.Pro672Ala) rs1262368552
NM_000548.5(TSC2):c.2024_2034del (p.Ala675fs) rs2151306395
NM_000548.5(TSC2):c.2025A>C (p.Ala675=) rs766113544
NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu) rs756536921
NM_000548.5(TSC2):c.2050G>C (p.Val684Leu)
NM_000548.5(TSC2):c.2054C>G (p.Pro685Arg) rs959165669
NM_000548.5(TSC2):c.2062C>G (p.Leu688Val)
NM_000548.5(TSC2):c.2067_2068del (p.Phe690fs) rs1064793524
NM_000548.5(TSC2):c.2071C>G (p.Arg691Gly) rs760489473
NM_000548.5(TSC2):c.2071del (p.Arg691fs) rs137854071
NM_000548.5(TSC2):c.2083C>T (p.Gln695Ter) rs45517209
NM_000548.5(TSC2):c.2087G>T (p.Cys696Phe) rs45486196
NM_000548.5(TSC2):c.2090T>C (p.Leu697Ser) rs2088487335
NM_000548.5(TSC2):c.2090dup (p.Leu697fs) rs137854189
NM_000548.5(TSC2):c.2091G>T (p.Leu697Phe) rs2151308956
NM_000548.5(TSC2):c.2092A>G (p.Lys698Glu) rs796053510
NM_000548.5(TSC2):c.2095C>T (p.Gln699Ter) rs45517210
NM_000548.5(TSC2):c.2097+5G>A rs977777731
NM_000548.5(TSC2):c.2097G>C (p.Gln699His) rs2151309145
NM_000548.5(TSC2):c.2098-1G>A rs45517212
NM_000548.5(TSC2):c.2098-5C>G rs369072310
NM_000548.5(TSC2):c.2099A>G (p.Glu700Gly)
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn) rs1013995962
NM_000548.5(TSC2):c.2105_2108del (p.Asp702fs) rs886041563
NM_000548.5(TSC2):c.2106_2108dup (p.Asp702_Trp703insCys)
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2113del (p.Val705fs) rs1555506428
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met) rs778040604
NM_000548.5(TSC2):c.2123T>C (p.Leu708Pro) rs876659689
NM_000548.5(TSC2):c.2136G>A (p.Arg712=) rs995073369
NM_000548.5(TSC2):c.2146T>G (p.Ser716Ala)
NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser) rs182538665
NM_000548.5(TSC2):c.2152C>T (p.Arg718Cys) rs182538665
NM_000548.5(TSC2):c.2153G>A (p.Arg718His) rs45517215
NM_000548.5(TSC2):c.2157T>G (p.Tyr719Ter) rs902456479
NM_000548.5(TSC2):c.2166C>A (p.Leu722=)
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_000548.5(TSC2):c.2174C>T (p.Thr725Ile) rs1567467623
NM_000548.5(TSC2):c.2180del (p.Pro727fs) rs2088578781
NM_000548.5(TSC2):c.2184C>A (p.Cys728Ter) rs1555506557
NM_000548.5(TSC2):c.2191G>T (p.Asp731Tyr)
NM_000548.5(TSC2):c.2193C>T (p.Asp731=) rs760053529
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter) rs45517216
NM_000548.5(TSC2):c.21del (p.Asp8fs) rs137854019
NM_000548.5(TSC2):c.2218A>G (p.Met740Val) rs757345150
NM_000548.5(TSC2):c.2220G>A (p.Met740Ile) rs2151319848
NM_000548.5(TSC2):c.2221-1G>A rs45517218
NM_000548.5(TSC2):c.2221-8G>A rs768919244
NM_000548.5(TSC2):c.2244G>T (p.Glu748Asp) rs2151326551
NM_000548.5(TSC2):c.225+133del rs554452830
NM_000548.5(TSC2):c.225+2T>C rs397515105
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.2264_2265delinsGC (p.Glu755Gly)
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2271C>T (p.Phe757=) rs1555506918
NM_000548.5(TSC2):c.2290C>A (p.Leu764Met) rs777614710
NM_000548.5(TSC2):c.2308C>A (p.Leu770Met) rs762215859
NM_000548.5(TSC2):c.231A>C (p.Ala77=) rs2151026046
NM_000548.5(TSC2):c.2325T>G (p.Ser775=)
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter) rs45517225
NM_000548.5(TSC2):c.2328C>T (p.Tyr776=) rs45517225
NM_000548.5(TSC2):c.2336A>G (p.Tyr779Cys) rs752656474
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter) rs45517226
NM_000548.5(TSC2):c.2355+261dup rs141745833
NM_000548.5(TSC2):c.2355G>A (p.Gln785=) rs2088708544
NM_000548.5(TSC2):c.2356-1G>A rs45481704
NM_000548.5(TSC2):c.2356-1G>T rs45481704
NM_000548.5(TSC2):c.2356-5T>G rs796053488
NM_000548.5(TSC2):c.2359G>A (p.Glu787Lys) rs45517231
NM_000548.5(TSC2):c.235G>A (p.Glu79Lys) rs2151026169
NM_000548.5(TSC2):c.2362_2363dup (p.Met788fs) rs2151346636
NM_000548.5(TSC2):c.2369A>G (p.Tyr790Cys) rs1555507478
NM_000548.5(TSC2):c.2375T>C (p.Leu792Pro) rs137854241
NM_000548.5(TSC2):c.2377G>T (p.Glu793Ter) rs1596356248
NM_000548.5(TSC2):c.2380C>T (p.Gln794Ter) rs45517233
NM_000548.5(TSC2):c.2386_2457del (p.Leu796_Ile819del) rs1555507504
NM_000548.5(TSC2):c.2405G>C (p.Ser802Thr) rs1015629239
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.5(TSC2):c.2424G>T (p.Leu808Phe) rs796053489
NM_000548.5(TSC2):c.2443A>T (p.Met815Leu)
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu) rs45517236
NM_000548.5(TSC2):c.2452A>G (p.Ile818Val) rs1596356585
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.2455A>G (p.Ile819Val) rs1426302691
NM_000548.5(TSC2):c.2460C>T (p.Ile820=) rs2151352359
NM_000548.5(TSC2):c.2479_2480delinsC (p.Val827fs) rs1555507612
NM_000548.5(TSC2):c.2486A>C (p.Lys829Thr) rs1555507617
NM_000548.5(TSC2):c.2487G>C (p.Lys829Asn) rs749431392
NM_000548.5(TSC2):c.2490C>G (p.Leu830=) rs768573698
NM_000548.5(TSC2):c.2491dup (p.Thr831fs) rs1555507623
NM_000548.5(TSC2):c.249G>A (p.Lys83=) rs1202653675
NM_000548.5(TSC2):c.2528T>C (p.Leu843Pro) rs1057522911
NM_000548.5(TSC2):c.2529_2537del (p.Glu845_Leu847del) rs1567476034
NM_000548.5(TSC2):c.2532G>A (p.Leu844=) rs2151356150
NM_000548.5(TSC2):c.2545+244C>A rs143553665
NM_000548.5(TSC2):c.2545+244C>G rs143553665
NM_000548.5(TSC2):c.2545+5G>C rs1131691965
NM_000548.5(TSC2):c.2545+95dup rs397515216
NM_000548.5(TSC2):c.2546-1G>A rs45468292
NM_000548.5(TSC2):c.2546-249dup rs933350142
NM_000548.5(TSC2):c.2546-250_2546-247del rs1170575546
NM_000548.5(TSC2):c.2546-250_2546-249dup rs933350142
NM_000548.5(TSC2):c.2546-254_2546-249dup rs933350142
NM_000548.5(TSC2):c.2546-2A>G rs45517246
NM_000548.5(TSC2):c.2558T>C (p.Leu853Pro)
NM_000548.5(TSC2):c.2567T>A (p.Leu856His) rs2151380235
NM_000548.5(TSC2):c.2570A>G (p.Tyr857Cys) rs878854084
NM_000548.5(TSC2):c.2579_2580del (p.Phe860fs) rs886042032
NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter) rs45517250
NM_000548.5(TSC2):c.2616C>T (p.Ser872=) rs779843919
NM_000548.5(TSC2):c.2618T>C (p.Leu873Pro) rs2151381717
NM_000548.5(TSC2):c.2639+1G>A rs45517252
NM_000548.5(TSC2):c.2639+44C>G rs1800715
NM_000548.5(TSC2):c.2639+6T>C rs2151382514
NM_000548.5(TSC2):c.2640-1G>A rs397515203
NM_000548.5(TSC2):c.2640-2A>G rs137854380
NM_000548.5(TSC2):c.2640-74G>A rs143128054
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter) rs45476100
NM_000548.5(TSC2):c.2649G>A (p.Gln883=)
NM_000548.5(TSC2):c.264G>A (p.Leu88=) rs1466279830
NM_000548.5(TSC2):c.2656G>C (p.Val886Leu) rs999523698
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.2678T>C (p.Ile893Thr) rs796053491
NM_000548.5(TSC2):c.2680G>C (p.Ala894Pro) rs1379507306
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.2713C>G (p.Arg905Gly) rs45517258
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.2720A>G (p.Asp907Gly) rs2151388705
NM_000548.5(TSC2):c.2721T>A (p.Asp907Glu) rs2089328474
NM_000548.5(TSC2):c.2728C>T (p.Pro910Ser) rs1319146226
NM_000548.5(TSC2):c.2742+6C>G rs377568673
NM_000548.5(TSC2):c.2742G>A (p.Lys914=) rs137854877
NM_000548.5(TSC2):c.2743-10A>G rs1060504094
NM_000548.5(TSC2):c.2743-1G>C rs45517263
NM_000548.5(TSC2):c.2743-9C>G rs397515319
NM_000548.5(TSC2):c.2747T>C (p.Leu916Pro) rs137854405
NM_000548.5(TSC2):c.2760C>T (p.Val920=) rs149490538
NM_000548.5(TSC2):c.2763_2764dup (p.Leu922fs) rs1555508917
NM_000548.5(TSC2):c.2772TGA[3] (p.Asp926_Thr927insAsp)
NM_000548.5(TSC2):c.2784C>G (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.2788_2790delinsGAC (p.Lys930Asp) rs1060500935
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg) rs886051791
NM_000548.5(TSC2):c.2837+10G>T rs1232454175
NM_000548.5(TSC2):c.2837+220C>T rs74002770
NM_000548.5(TSC2):c.2838-10C>T rs1596374422
NM_000548.5(TSC2):c.2838-122G>A rs1567489890
NM_000548.5(TSC2):c.2838-3T>G rs553942147
NM_000548.5(TSC2):c.2840T>C (p.Leu947Pro) rs1555509447
NM_000548.5(TSC2):c.2855C>A (p.Pro952His)
NM_000548.5(TSC2):c.2858_2859delinsAA (p.Pro953Gln) rs886044172
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
NM_000548.5(TSC2):c.2868del (p.Gly956_Leu957insTer) rs1057518322
NM_000548.5(TSC2):c.2870dup (p.Leu957fs) rs1567490680
NM_000548.5(TSC2):c.2877C>T (p.Asn959=) rs147523833
NM_000548.5(TSC2):c.2892_2895del (p.Lys964fs) rs1555509491
NM_000548.5(TSC2):c.2902_2907del (p.Glu968_Ser969del) rs1460562160
NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro) rs779832805
NM_000548.5(TSC2):c.2930G>A (p.Cys977Tyr) rs2089593473
NM_000548.5(TSC2):c.2933G>A (p.Arg978His) rs876660733
NM_000548.5(TSC2):c.294G>A (p.Arg98=)
NM_000548.5(TSC2):c.2958_2960del (p.Val987del) rs2151416522
NM_000548.5(TSC2):c.2966+15G>A rs779884344
NM_000548.5(TSC2):c.2966+20G>T rs778545519
NM_000548.5(TSC2):c.2966+92_2966+94dup rs397515128
NM_000548.5(TSC2):c.2968A>T (p.Arg990Trp) rs753730009
NM_000548.5(TSC2):c.2985C>T (p.Leu995=) rs786203324
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser) rs1440361406
NM_000548.5(TSC2):c.2T>C (p.Met1Thr) rs2084667702
NM_000548.5(TSC2):c.3007G>A (p.Ala1003Thr) rs1555510234
NM_000548.5(TSC2):c.3020C>G (p.Ser1007Cys) rs2151431750
NM_000548.5(TSC2):c.3030G>A (p.Gln1010=) rs776658284
NM_000548.5(TSC2):c.3030G>C (p.Gln1010His) rs776658284
NM_000548.5(TSC2):c.3040A>G (p.Ser1014Gly) rs1163007321
NM_000548.5(TSC2):c.3043C>G (p.Leu1015Val) rs2151432458
NM_000548.5(TSC2):c.3052C>T (p.Leu1018Phe) rs1034696882
NM_000548.5(TSC2):c.3059T>C (p.Leu1020Pro) rs2089798643
NM_000548.5(TSC2):c.3086T>C (p.Met1029Thr) rs1057522974
NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg) rs1567496821
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
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.3102C>G (p.Val1034=) rs562998574
NM_000548.5(TSC2):c.3102C>T (p.Val1034=) rs562998574
NM_000548.5(TSC2):c.3103T>C (p.Phe1035Leu) rs2151434349
NM_000548.5(TSC2):c.3106T>G (p.Ser1036Ala) rs45517281
NM_000548.5(TSC2):c.3124C>A (p.Pro1042Thr)
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.3131+1G>A rs45506401
NM_000548.5(TSC2):c.3131+2T>A rs397515036
NM_000548.5(TSC2):c.3132-1G>C rs45443096
NM_000548.5(TSC2):c.3132-2A>G
NM_000548.5(TSC2):c.3134C>T (p.Ser1045Phe)
NM_000548.5(TSC2):c.3137C>T (p.Pro1046Leu) rs1567497682
NM_000548.5(TSC2):c.3144C>T (p.Gly1048=) rs772640324
NM_000548.5(TSC2):c.3164del (p.Gly1055fs) rs1555510519
NM_000548.5(TSC2):c.3176C>G (p.Thr1059Ser) rs753205147
NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter) rs796053509
NM_000548.5(TSC2):c.3182_3183insAACC (p.Val1062fs) rs1555510579
NM_000548.5(TSC2):c.3190_3285-15del
NM_000548.5(TSC2):c.3192C>G (p.Asn1064Lys) rs201670791
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro) rs397515207
NM_000548.5(TSC2):c.31T>C (p.Leu11=) rs978517404
NM_000548.5(TSC2):c.3205G>C (p.Val1069Leu) rs2151438862
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.3212C>T (p.Thr1071Ile) rs45498892
NM_000548.5(TSC2):c.3212_3213del (p.Thr1071fs) rs1057518448
NM_000548.5(TSC2):c.3217G>A (p.Val1073Met) rs749192298
NM_000548.5(TSC2):c.3229_3258dup (p.Thr1077_Gly1086dup) rs1567498463
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe) rs371514669
NM_000548.5(TSC2):c.3253delinsCC (p.Ser1085fs) rs1596384304
NM_000548.5(TSC2):c.3259G>T (p.Glu1087Ter) rs1085307762
NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter) rs45517288
NM_000548.5(TSC2):c.3268T>C (p.Ser1090Pro) rs1060500936
NM_000548.5(TSC2):c.3271G>A (p.Gly1091Ser) rs796053493
NM_000548.5(TSC2):c.3276G>C (p.Pro1092=) rs368923127
NM_000548.5(TSC2):c.3278A>G (p.Glu1093Gly) rs796053494
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu) rs397514887
NM_000548.5(TSC2):c.3284+1G>A rs45517289
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn) rs1555510754
NM_000548.5(TSC2):c.3284G>T (p.Ser1095Ile) rs1555510754
NM_000548.5(TSC2):c.3285-3C>G rs781023043
NM_000548.5(TSC2):c.328C>T (p.Gln110Ter) rs1064796511
NM_000548.5(TSC2):c.329del (p.Gln110fs) rs1567395826
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer) rs796053515
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met) rs775584262
NM_000548.5(TSC2):c.3311A>C (p.Gln1104Pro) rs869144637
NM_000548.5(TSC2):c.3314C>T (p.Thr1105Ile) rs946381749
NM_000548.5(TSC2):c.3319_3320delinsAT (p.Glu1107Met) rs1596385905
NM_000548.5(TSC2):c.331G>T (p.Gly111Trp) rs1266039524
NM_000548.5(TSC2):c.3323C>T (p.Ala1108Val) rs587781782
NM_000548.5(TSC2):c.3325C>G (p.Pro1109Ala) rs1555510880
NM_000548.5(TSC2):c.3325C>T (p.Pro1109Ser)
NM_000548.5(TSC2):c.3335_3355dup (p.Leu1112_Gln1118dup) rs2089873322
NM_000548.5(TSC2):c.3347C>T (p.Ala1116Val) rs878854092
NM_000548.5(TSC2):c.3351G>A (p.Gly1117=) rs1596386166
NM_000548.5(TSC2):c.3356A>G (p.Gln1119Arg) rs1567500641
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu) rs1053311636
NM_000548.5(TSC2):c.336+1G>A rs45517102
NM_000548.5(TSC2):c.336+2T>G rs45505995
NM_000548.5(TSC2):c.336+33G>T rs45517104
NM_000548.5(TSC2):c.336+5G>C rs1057523242
NM_000548.5(TSC2):c.3364del (p.Arg1122fs) rs2151446681
NM_000548.5(TSC2):c.3365G>C (p.Arg1122Pro) rs369536711
NM_000548.5(TSC2):c.337-1G>A rs45517105
NM_000548.5(TSC2):c.3389C>T (p.Ser1130Phe) rs1163066622
NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter) rs137854074
NM_000548.5(TSC2):c.3397+5G>A rs45501492
NM_000548.5(TSC2):c.3400G>A (p.Gly1134Ser) rs2089952201
NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs) rs137854314
NM_000548.5(TSC2):c.3403del (p.His1135fs) rs1596389437
NM_000548.5(TSC2):c.3404del (p.His1135fs) rs1064793464
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3424del (p.Leu1142fs) rs1596389562
NM_000548.5(TSC2):c.3428A>T (p.Asp1143Val) rs796053495
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter) rs45477491
NM_000548.5(TSC2):c.3448del (p.Leu1150fs) rs1555511352
NM_000548.5(TSC2):c.3448dup (p.Leu1150fs) rs1555511352
NM_000548.5(TSC2):c.344G>C (p.Arg115Pro) rs764529584
NM_000548.5(TSC2):c.3452del (p.Gly1151fs) rs1131691419
NM_000548.5(TSC2):c.3454A>G (p.Ser1152Gly) rs772215032
NM_000548.5(TSC2):c.3457G>A (p.Ala1153Thr) rs1352230225
NM_000548.5(TSC2):c.345T>G (p.Arg115=)
NM_000548.5(TSC2):c.3467C>T (p.Pro1156Leu) rs144126969
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.5(TSC2):c.3505G>A (p.Ala1169Thr) rs773900333
NM_000548.5(TSC2):c.3505G>T (p.Ala1169Ser) rs773900333
NM_000548.5(TSC2):c.3506C>T (p.Ala1169Val)
NM_000548.5(TSC2):c.3512C>T (p.Ala1171Val)
NM_000548.5(TSC2):c.3519C>T (p.Thr1173=) rs754306983
NM_000548.5(TSC2):c.352dup (p.Val118fs) rs137853982
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) rs45517297
NM_000548.5(TSC2):c.3543G>C (p.Thr1181=) rs139313964
NM_000548.5(TSC2):c.3547_3548delinsTA (p.Leu1183Ter) rs1567504592
NM_000548.5(TSC2):c.3557A>C (p.Tyr1186Ser) rs137854421
NM_000548.5(TSC2):c.355C>T (p.Leu119Phe) rs1596264734
NM_000548.5(TSC2):c.3565C>G (p.Leu1189Val) rs796053476
NM_000548.5(TSC2):c.3565del (p.Leu1189fs) rs137854121
NM_000548.5(TSC2):c.358A>T (p.Arg120Ter) rs1131691602
NM_000548.5(TSC2):c.3599G>A (p.Arg1200Gln) rs397515225
NM_000548.5(TSC2):c.3608C>T (p.Thr1203Ile)
NM_000548.5(TSC2):c.3610+124dup rs58192244
NM_000548.5(TSC2):c.3610+170A>C rs9933952
NM_000548.5(TSC2):c.3610+1G>A rs45517299
NM_000548.5(TSC2):c.3610+1G>C rs45517299
NM_000548.5(TSC2):c.3610+1G>T rs45517299
NM_000548.5(TSC2):c.3610+226C>T rs182662506
NM_000548.5(TSC2):c.3611-11C>A rs375617364
NM_000548.5(TSC2):c.3611-11C>G rs375617364
NM_000548.5(TSC2):c.3611-11C>T rs375617364
NM_000548.5(TSC2):c.3611-2A>T rs397515169
NM_000548.5(TSC2):c.3611-5C>T rs200194551
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.3622T>C (p.Trp1208Arg) rs45482795
NM_000548.5(TSC2):c.3624G>A (p.Trp1208Ter) rs796053496
NM_000548.5(TSC2):c.3648del (p.Ser1217fs)
NM_000548.5(TSC2):c.3653del (p.Pro1218fs) rs1057518201
NM_000548.5(TSC2):c.366CTT[1] (p.Phe124del) rs1342475885
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter) rs45517306
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter) rs137854210
NM_000548.5(TSC2):c.3727G>T (p.Glu1243Ter) rs1057520759
NM_000548.5(TSC2):c.3729G>C (p.Glu1243Asp) rs2151483009
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=) rs777489742
NM_000548.5(TSC2):c.3733C>G (p.Arg1245Gly) rs777489742
NM_000548.5(TSC2):c.3736del (p.Asp1246fs) rs796053516
NM_000548.5(TSC2):c.3738C>T (p.Asp1246=)
NM_000548.5(TSC2):c.3738dup (p.Thr1247fs) rs796053506
NM_000548.5(TSC2):c.3739del (p.Thr1247fs) rs796053517
NM_000548.5(TSC2):c.3742_3751del (p.Ala1248fs) rs2151483315
NM_000548.5(TSC2):c.3745C>T (p.Leu1249=) rs1596400436
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs) rs1555512486
NM_000548.5(TSC2):c.3767C>T (p.Pro1256Leu) rs1596400594
NM_000548.5(TSC2):c.3772G>C (p.Ala1258Pro) rs2090168528
NM_000548.5(TSC2):c.3782C>A (p.Ala1261Asp) rs45517310
NM_000548.5(TSC2):c.3782_3814dup (p.Thr1271_Val1272insAlaLysProProProLeuProArgSerAsnThr)
NM_000548.5(TSC2):c.3783del (p.Lys1262fs) rs1555512548
NM_000548.5(TSC2):c.3786dup (p.Pro1263fs) rs2090170656
NM_000548.5(TSC2):c.3791del (p.Pro1264fs) rs137854001
NM_000548.5(TSC2):c.3793C>G (p.Pro1265Ala) rs45517311
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000548.5(TSC2):c.3814+1G>C rs397514902
NM_000548.5(TSC2):c.3815-8C>G rs1596404187
NM_000548.5(TSC2):c.3817G>A (p.Ala1273Thr) rs1596404280
NM_000548.5(TSC2):c.3817_3820dup (p.Ser1274fs) rs1555512845
NM_000548.5(TSC2):c.3821_3833del (p.Ser1274fs) rs1064794126
NM_000548.5(TSC2):c.3825C>G (p.Phe1275Leu)
NM_000548.5(TSC2):c.3841_3853del (p.Ser1281fs) rs796053518
NM_000548.5(TSC2):c.3846C>G (p.Ser1282Arg) rs1596404651
NM_000548.5(TSC2):c.3846_3854del (p.Ser1282_Gly1285delinsArg) rs997331401
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.3855A>G (p.Gly1285=) rs891262541
NM_000548.5(TSC2):c.3860T>C (p.Leu1287Pro)
NM_000548.5(TSC2):c.3863A>C (p.His1288Pro) rs1567514069
NM_000548.5(TSC2):c.3867_3869del (p.Arg1289del) rs1567514084
NM_000548.5(TSC2):c.3874del (p.Ser1292fs) rs2151493492
NM_000548.5(TSC2):c.3875C>T (p.Ser1292Phe) rs796053497
NM_000548.5(TSC2):c.3883+1G>T
NM_000548.5(TSC2):c.3883+2T>G rs2090269194
NM_000548.5(TSC2):c.3884-17C>G rs45517317
NM_000548.5(TSC2):c.3884-1G>C rs137854079
NM_000548.5(TSC2):c.3887C>T (p.Ser1296Phe) rs1027773484
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val) rs371239156
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=) rs373508609
NM_000548.5(TSC2):c.3891C>T (p.Ala1297=) rs373508609
NM_000548.5(TSC2):c.3904G>T (p.Glu1302Ter) rs886039680
NM_000548.5(TSC2):c.3950dup (p.Leu1317fs) rs2151512451
NM_000548.5(TSC2):c.3952G>T (p.Glu1318Ter) rs1064793797
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val) rs587778736
NM_000548.5(TSC2):c.3991G>C (p.Asp1331His) rs770396146
NM_000548.5(TSC2):c.3994G>C (p.Ala1332Pro) rs1555513574
NM_000548.5(TSC2):c.3996C>A (p.Ala1332=) rs1421997373
NM_000548.5(TSC2):c.3996C>T (p.Ala1332=) rs1421997373
NM_000548.5(TSC2):c.3G>T (p.Met1Ile) rs397515208
NM_000548.5(TSC2):c.4004G>T (p.Arg1335Met)
NM_000548.5(TSC2):c.4005+153T>A rs28535326
NM_000548.5(TSC2):c.4005+1G>C rs45517324
NM_000548.5(TSC2):c.4005+1G>T rs45517324
NM_000548.5(TSC2):c.4005+4A>T
NM_000548.5(TSC2):c.4006-1G>A rs1085307853
NM_000548.5(TSC2):c.4006-1G>C rs1085307853
NM_000548.5(TSC2):c.4006-3_4006-2insG
NM_000548.5(TSC2):c.4006-6T>C rs1060500953
NM_000548.5(TSC2):c.4006-7T>G rs2151520224
NM_000548.5(TSC2):c.4008_4010del (p.Ser1338del) rs1567520255
NM_000548.5(TSC2):c.4013C>T (p.Ser1338Leu) rs2151520475
NM_000548.5(TSC2):c.4016T>A (p.Val1339Asp)
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg) rs45462593
NM_000548.5(TSC2):c.4027GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.4030_4038delinsT (p.Glu1344fs)
NM_000548.5(TSC2):c.4041C>T (p.Leu1347=) rs1060504109
NM_000548.5(TSC2):c.4061G>A (p.Gly1354Asp) rs878854102
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.4069A>C (p.Ile1357Leu) rs1555513920
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr) rs878854103
NM_000548.5(TSC2):c.4081C>G (p.Arg1361Gly) rs560831385
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.5(TSC2):c.4087G>T (p.Val1363Phe) rs751203255
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.4099_4100insT (p.Gly1367fs) rs1064793573
NM_000548.5(TSC2):c.4107G>A (p.Arg1369=) rs201688447
NM_000548.5(TSC2):c.4107G>C (p.Arg1369=) rs201688447
NM_000548.5(TSC2):c.4115_4116del (p.Val1372fs) rs137854368
NM_000548.5(TSC2):c.4124C>T (p.Ser1375Phe) rs145476528
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys) rs1173061992
NM_000548.5(TSC2):c.412G>T (p.Glu138Ter) rs1173061992
NM_000548.5(TSC2):c.4138C>A (p.Gln1380Lys) rs137854045
NM_000548.5(TSC2):c.413A>G (p.Glu138Gly) rs2151042580
NM_000548.5(TSC2):c.4144_4145del (p.Leu1382fs)
NM_000548.5(TSC2):c.4149dup (p.Lys1384fs) rs1555514063
NM_000548.5(TSC2):c.4155C>T (p.Ser1385=) rs1057521540
NM_000548.5(TSC2):c.4161C>A (p.Ser1387=)
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.4183C>T (p.Gln1395Ter) rs886041772
NM_000548.5(TSC2):c.4196G>T (p.Gly1399Val)
NM_000548.5(TSC2):c.419T>C (p.Leu140Pro) rs2151042793
NM_000548.5(TSC2):c.4201C>G (p.Pro1401Ala) rs778147657
NM_000548.5(TSC2):c.4207del (p.Asp1403fs) rs137854273
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn) rs147719291
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr) rs147719291
NM_000548.5(TSC2):c.4220_4221del (p.Val1407fs) rs1555514179
NM_000548.5(TSC2):c.4223del (p.Gly1408fs) rs137854427
NM_000548.5(TSC2):c.4225C>G (p.Arg1409Gly) rs45517333
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter) rs45437193
NM_000548.5(TSC2):c.4255_4256del (p.Gln1419fs) rs2151529577
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs) rs137854132
NM_000548.5(TSC2):c.4267C>T (p.Leu1423=) rs1484475537
NM_000548.5(TSC2):c.4270G>C (p.Asp1424His) rs1216613310
NM_000548.5(TSC2):c.4271A>G (p.Asp1424Gly) rs876659933
NM_000548.5(TSC2):c.4273G>C (p.Gly1425Arg) rs763497329
NM_000548.5(TSC2):c.4276dup (p.Glu1426fs) rs886041573
NM_000548.5(TSC2):c.4280del (p.Ser1427fs) rs2151530795
NM_000548.5(TSC2):c.428del (p.Phe143fs) rs1057518508
NM_000548.5(TSC2):c.4298C>G (p.Ser1433Trp) rs45517335
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp) rs778925833
NM_000548.5(TSC2):c.4316del (p.Gly1439fs) rs137853988
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) rs45517337
NM_000548.5(TSC2):c.431A>T (p.Lys144Met)
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser) rs201710642
NM_000548.5(TSC2):c.4349C>A (p.Pro1450His) rs45517338
NM_000548.5(TSC2):c.4351C>T (p.Arg1451Cys) rs369553241
NM_000548.5(TSC2):c.4355C>A (p.Ser1452Ter) rs45517339
NM_000548.5(TSC2):c.4364G>C (p.Gly1455Ala) rs1567524174
NM_000548.5(TSC2):c.4365C>T (p.Gly1455=) rs2090527409
NM_000548.5(TSC2):c.4369del (p.Arg1457fs) rs1567524236
NM_000548.5(TSC2):c.4372C>T (p.Pro1458Ser) rs1189784704
NM_000548.5(TSC2):c.4409G>A (p.Arg1470His) rs1060500969
NM_000548.5(TSC2):c.4415del (p.Gly1472fs) rs794727573
NM_000548.5(TSC2):c.4416C>T (p.Gly1472=) rs2090534289
NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile) rs1202676769
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His) rs45517343
NM_000548.5(TSC2):c.4473del (p.Val1492fs) rs397515023
NM_000548.5(TSC2):c.4485C>G (p.Ile1495Met) rs1030218603
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.4493+1G>A rs1057518230
NM_000548.5(TSC2):c.4494-12dup rs2090575419
NM_000548.5(TSC2):c.4494-2A>G rs397514990
NM_000548.5(TSC2):c.4495_4499del (p.Phe1499Valfs) rs886041905
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.4520C>T (p.Ser1507Phe) rs746246149
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.4527C>A (p.Phe1509Leu) rs775919951
NM_000548.5(TSC2):c.4536_4543del (p.Asp1512fs)
NM_000548.5(TSC2):c.4537G>T (p.Glu1513Ter)
NM_000548.5(TSC2):c.4541C>G (p.Ser1514Ter) rs74363455
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.4544del (p.Asn1515fs) rs886041789
NM_000548.5(TSC2):c.4546A>G (p.Lys1516Glu) rs1596422969
NM_000548.5(TSC2):c.4546_4549del (p.Lys1516fs) rs886041643
NM_000548.5(TSC2):c.4549C>G (p.Pro1517Ala) rs1057522800
NM_000548.5(TSC2):c.4550C>G (p.Pro1517Arg) rs1279603512
NM_000548.5(TSC2):c.4569+1G>A rs1060500972
NM_000548.5(TSC2):c.4569+46C>T rs45482793
NM_000548.5(TSC2):c.4569+47G>A rs45517351
NM_000548.5(TSC2):c.4570-13C>G rs370549253
NM_000548.5(TSC2):c.4570-21_4570-11dup rs137854040
NM_000548.5(TSC2):c.4570-66G>A rs45496499
NM_000548.5(TSC2):c.4571C>A (p.Ser1524Ter) rs1441428144
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu) rs45517352
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter) rs45517352
NM_000548.5(TSC2):c.4582G>C (p.Glu1528Gln) rs2090622255
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp) rs199848388
NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter) rs886041919
NM_000548.5(TSC2):c.45dup (p.Lys16Ter) rs397515020
NM_000548.5(TSC2):c.4603G>C (p.Asp1535His) rs45517353
NM_000548.5(TSC2):c.4613C>A (p.Pro1538Gln) rs753060862
NM_000548.5(TSC2):c.4635C>G (p.Ile1545Met) rs757388437
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys) rs45517355
NM_000548.5(TSC2):c.4647T>C (p.Tyr1549=) rs397515028
NM_000548.5(TSC2):c.4655_4656delinsGC (p.Glu1552Gly) rs2151553737
NM_000548.5(TSC2):c.4658G>A (p.Gly1553Asp) rs2090634038
NM_000548.5(TSC2):c.4659C>T (p.Gly1553=) rs202212109
NM_000548.5(TSC2):c.4660C>T (p.Gln1554Ter) rs2090634528
NM_000548.5(TSC2):c.4662+1G>T
NM_000548.5(TSC2):c.4662+2_4662+6del rs796053520
NM_000548.5(TSC2):c.4663-11_4663-5del rs760527750
NM_000548.5(TSC2):c.4663-20CCTCTCC[3] rs760527750
NM_000548.5(TSC2):c.4664G>A (p.Ser1555Asn) rs1354678802
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.4674G>A (p.Glu1558=) rs2151569595
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.4709G>A (p.Arg1570Lys) rs397514980
NM_000548.5(TSC2):c.4716G>C (p.Thr1572=) rs369346726
NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met) rs45437192
NM_000548.5(TSC2):c.4729G>A (p.Gly1577Ser) rs796053499
NM_000548.5(TSC2):c.4729G>T (p.Gly1577Cys)
NM_000548.5(TSC2):c.4730del (p.Gly1577fs) rs397515173
NM_000548.5(TSC2):c.4733T>G (p.Leu1578Arg) rs45517367
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys) rs886039446
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter) rs45479192
NM_000548.5(TSC2):c.4780C>T (p.Leu1594=) rs45511204
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg) rs45517369
NM_000548.5(TSC2):c.4787G>A (p.Gly1596Asp) rs397515014
NM_000548.5(TSC2):c.478C>G (p.Leu160Val) rs45517109
NM_000548.5(TSC2):c.4795G>C (p.Val1599Leu) rs772687631
NM_000548.5(TSC2):c.481+5G>T rs137854135
NM_000548.5(TSC2):c.4810_4811del (p.Gly1604fs) rs2151575311
NM_000548.5(TSC2):c.482-1G>A rs137854306
NM_000548.5(TSC2):c.482-20T>A rs548831116
NM_000548.5(TSC2):c.482-68C>G rs2516734
NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del) rs137854399
NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter) rs45517371
NM_000548.5(TSC2):c.4834G>T (p.Asp1612Tyr) rs886051795
NM_000548.5(TSC2):c.4838A>C (p.Asp1613Ala)
NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del) rs137854331
NM_000548.5(TSC2):c.4844T>G (p.Met1615Arg) rs2090790157
NM_000548.5(TSC2):c.4845G>A (p.Met1615Ile) rs2090790316
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter) rs45455296
NM_000548.5(TSC2):c.4849+2T>C
NM_000548.5(TSC2):c.4850-109T>C rs13335638
NM_000548.5(TSC2):c.4859A>T (p.His1620Leu) rs397515177
NM_000548.5(TSC2):c.4861A>G (p.Ile1621Val) rs1555516628
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile) rs397515220
NM_000548.5(TSC2):c.486C>T (p.Asp162=) rs45473598
NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs) rs137854050
NM_000548.5(TSC2):c.4881del (p.Lys1628fs) rs1064793646
NM_000548.5(TSC2):c.4882A>G (p.Lys1628Glu)
NM_000548.5(TSC2):c.4883dup (p.Asp1629fs) rs2151585265
NM_000548.5(TSC2):c.4889_4989+135del rs137854272
NM_000548.5(TSC2):c.488T>C (p.Phe163Ser) rs1596270677
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.4909AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4916G>A (p.Arg1639His) rs137854153
NM_000548.5(TSC2):c.4919A>C (p.His1640Pro) rs794727602
NM_000548.5(TSC2):c.4924_4936del (p.Gly1642fs) rs2151587004
NM_000548.5(TSC2):c.4925del (p.Gly1642fs) rs137854156
NM_000548.5(TSC2):c.4927A>C (p.Asn1643His) rs45517379
NM_000548.5(TSC2):c.4936G>A (p.Val1646Met) rs1064796970
NM_000548.5(TSC2):c.4938_4946del (p.Ser1647_Val1649del) rs1555438624
NM_000548.5(TSC2):c.4939T>C (p.Ser1647Pro) rs2151587714
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr) rs45471896
NM_000548.5(TSC2):c.4951A>G (p.Asn1651Asp) rs2090865014
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.4966_4989+14delinsTGA rs2151588861
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter) rs45517111
NM_000548.5(TSC2):c.4989+134G>A
NM_000548.5(TSC2):c.4989+244G>C rs28721933
NM_000548.5(TSC2):c.4989+6_4989+9del rs1262967003
NM_000548.5(TSC2):c.4990-1G>A rs1555439650
NM_000548.5(TSC2):c.4990-58G>A rs116828573
NM_000548.5(TSC2):c.4990-5G>T rs753000765
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter) rs45448101
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=) rs551938797
NM_000548.5(TSC2):c.5003_5004del (p.Phe1668fs) rs2151611619
NM_000548.5(TSC2):c.500G>A (p.Trp167Ter) rs1131691794
NM_000548.5(TSC2):c.5011G>T (p.Val1671Leu)
NM_000548.5(TSC2):c.5012T>A (p.Val1671Glu) rs2151611996
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu) rs45490993
NM_000548.5(TSC2):c.5018T>G (p.Val1673Gly) rs397515067
NM_000548.5(TSC2):c.5024C>G (p.Pro1675Arg) rs45483392
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5026C>G (p.Leu1676Val) rs201707249
NM_000548.5(TSC2):c.5028_5032dup (p.Tyr1678fs) rs1555439753
NM_000548.5(TSC2):c.5042A>G (p.Asn1681Ser) rs1567128450
NM_000548.5(TSC2):c.5047G>C (p.Val1683Leu) rs1596455392
NM_000548.5(TSC2):c.5056C>A (p.Gln1686Lys)
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter) rs45517388
NM_000548.5(TSC2):c.5061_5069-47dup
NM_000548.5(TSC2):c.5064G>C (p.Arg1688Ser) rs374476631
NM_000548.5(TSC2):c.5068+1G>A rs45445199
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5068+2T>C rs397515152
NM_000548.5(TSC2):c.5069-14_5069-12del rs397514923
NM_000548.5(TSC2):c.5069-2A>C rs45487291
NM_000548.5(TSC2):c.506del (p.Asp169fs) rs1596270787
NM_000548.5(TSC2):c.5075_5078del (p.Glu1692fs) rs137854037
NM_000548.5(TSC2):c.5078del (p.Gly1693fs) rs1555440022
NM_000548.5(TSC2):c.5086dup (p.Asp1696fs) rs2151620335
NM_000548.5(TSC2):c.5090C>A (p.Thr1697Asn) rs777223264
NM_000548.5(TSC2):c.5092A>C (p.Ser1698Arg)
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.5101A>G (p.Lys1701Glu) rs2151620842
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5106C>G (p.Ile1702Met) rs45483700
NM_000548.5(TSC2):c.5115C>G (p.Asp1705Glu) rs1385591764
NM_000548.5(TSC2):c.5122del (p.Leu1708fs) rs137854336
NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg) rs45517393
NM_000548.5(TSC2):c.5138_5149del (p.Arg1713_Ala1716del) rs1064795156
NM_000548.5(TSC2):c.5141A>G (p.Gln1714Arg)
NM_000548.5(TSC2):c.5147C>T (p.Ala1716Val) rs1420725409
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) rs45517398
NM_000548.5(TSC2):c.5159A>C (p.Asn1720Thr) rs796053500
NM_000548.5(TSC2):c.5160+1G>A rs45517399
NM_000548.5(TSC2):c.5160+1G>T rs45517399
NM_000548.5(TSC2):c.5160+2T>C rs397515170
NM_000548.5(TSC2):c.5160+2_5160+3del rs137854036
NM_000548.5(TSC2):c.5160+2dup rs397514969
NM_000548.5(TSC2):c.5160+6T>G rs1567130441
NM_000548.5(TSC2):c.5160+6_5160+27del rs1555440243
NM_000548.5(TSC2):c.5161-15_5161-3del rs1555440326
NM_000548.5(TSC2):c.5161-28_5161-25del rs1799758
NM_000548.5(TSC2):c.5169dup (p.Gln1724fs) rs1555440437
NM_000548.5(TSC2):c.5171A>C (p.Gln1724Pro) rs923367492
NM_000548.5(TSC2):c.5177A>T (p.His1726Leu)
NM_000548.5(TSC2):c.5197A>C (p.Thr1733Pro) rs1596460327
NM_000548.5(TSC2):c.5200_5202delinsAAC (p.Asp1734Asn) rs1596460422
NM_000548.5(TSC2):c.5201A>T (p.Asp1734Val) rs878854117
NM_000548.5(TSC2):c.5203dup (p.Ile1735fs) rs886041940
NM_000548.5(TSC2):c.5214del (p.Lys1739fs) rs397515139
NM_000548.5(TSC2):c.5217G>A (p.Lys1739=) rs1596460659
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.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5230C>T (p.Leu1744Phe) rs1567132207
NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro) rs45517413
NM_000548.5(TSC2):c.5234_5238del (p.Arg1745fs) rs137854002
NM_000548.5(TSC2):c.5238C>A (p.His1746Gln) rs1060504084
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5243A>G (p.Lys1748Arg) rs753424501
NM_000548.5(TSC2):c.5252_5259+19del rs137854397
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5259+2T>G rs1555440894
NM_000548.5(TSC2):c.5259+4G>A rs2091153561
NM_000548.5(TSC2):c.5260-25C>G rs13332222
NM_000548.5(TSC2):c.5260-2A>C rs1374323400
NM_000548.5(TSC2):c.5260-39G>A
NM_000548.5(TSC2):c.5260-9_5279del rs967037646
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.5262del (p.Cys1755fs) rs796053507
NM_000548.5(TSC2):c.5266del (p.Glu1756fs) rs878854118
NM_000548.5(TSC2):c.5268G>C (p.Glu1756Asp) rs755229386
NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro) rs1555441169
NM_000548.5(TSC2):c.5289del (p.Ser1764fs) rs1555441221
NM_000548.5(TSC2):c.5292C>T (p.Ser1764=) rs769507440
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.5302G>A (p.Val1768Met) rs2151639120
NM_000548.5(TSC2):c.5315C>G (p.Ser1772Cys)
NM_000548.5(TSC2):c.5316C>G (p.Ser1772=) rs2151639594
NM_000548.5(TSC2):c.5327C>T (p.Ala1776Val)
NM_000548.5(TSC2):c.5329C>G (p.Pro1777Ala) rs781226141
NM_000548.5(TSC2):c.5330C>A (p.Pro1777His) rs1555441353
NM_000548.5(TSC2):c.5333C>T (p.Ala1778Val) rs755900742
NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu) rs878854119
NM_000548.5(TSC2):c.5346C>T (p.Ala1782=) rs557200243
NM_000548.5(TSC2):c.5356C>T (p.Pro1786Ser) rs371543182
NM_000548.5(TSC2):c.5358del (p.Gly1787fs) rs2151641235
NM_000548.5(TSC2):c.535G>T (p.Val179Leu)
NM_000548.5(TSC2):c.5367G>A (p.Glu1789=) rs966695764
NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp) rs966695764
NM_000548.5(TSC2):c.5389_5392dup (p.Ser1798fs) rs1085307666
NM_000548.5(TSC2):c.5391CTC[1] (p.Ser1799del) rs796053480
NM_000548.5(TSC2):c.5392T>G (p.Ser1798Ala)
NM_000548.5(TSC2):c.5395_5397del (p.Ser1799del) rs2151642647
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.543_551del (p.Asn182_Val184del)
NM_000548.5(TSC2):c.573C>G (p.Leu191=) rs397515059
NM_000548.5(TSC2):c.581dup (p.Tyr194Ter) rs1555498221
NM_000548.5(TSC2):c.585C>G (p.Ile195Met) rs397515309
NM_000548.5(TSC2):c.599+3A>G rs397514899
NM_000548.5(TSC2):c.600-287del rs373314420
NM_000548.5(TSC2):c.600-287dup rs373314420
NM_000548.5(TSC2):c.600-288_600-287del rs373314420
NM_000548.5(TSC2):c.613C>T (p.Leu205=) rs1596275276
NM_000548.5(TSC2):c.648+20A>G rs2151071929
NM_000548.5(TSC2):c.649-12C>A rs1596277751
NM_000548.5(TSC2):c.649-1G>C rs794727906
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter) rs45517119
NM_000548.5(TSC2):c.661G>C (p.Val221Leu)
NM_000548.5(TSC2):c.670G>A (p.Ala224Thr) rs772558666
NM_000548.5(TSC2):c.680_682del (p.Cys227del) rs2151078439
NM_000548.5(TSC2):c.700G>C (p.Glu234Gln) rs397515018
NM_000548.5(TSC2):c.704G>C (p.Ser235Thr) rs397514957
NM_000548.5(TSC2):c.716T>C (p.Phe239Ser) rs778544723
NM_000548.5(TSC2):c.716T>G (p.Phe239Cys) rs778544723
NM_000548.5(TSC2):c.717C>G (p.Phe239Leu) rs1567408727
NM_000548.5(TSC2):c.721G>C (p.Val241Leu) rs200943828
NM_000548.5(TSC2):c.726C>T (p.Thr242=) rs570051626
NM_000548.5(TSC2):c.727C>T (p.Leu243Phe) rs796053502
NM_000548.5(TSC2):c.730T>C (p.Cys244Arg) rs137854101
NM_000548.5(TSC2):c.743A>C (p.Asn248Thr)
NM_000548.5(TSC2):c.759C>A (p.Cys253Ter) rs45517125
NM_000548.5(TSC2):c.766del (p.Cys256fs) rs1567409292
NM_000548.5(TSC2):c.774+1G>A rs45517128
NM_000548.5(TSC2):c.774+2T>A rs45517129
NM_000548.5(TSC2):c.774+2T>C
NM_000548.5(TSC2):c.775-2del rs2085953535
NM_000548.5(TSC2):c.775-3C>G rs397514909
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.791T>C (p.Leu264Pro) rs45517131
NM_000548.5(TSC2):c.814G>T (p.Ala272Ser) rs373818076
NM_000548.5(TSC2):c.824dup (p.Asn275fs) rs886041922
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.833A>G (p.His278Arg) rs397515266
NM_000548.5(TSC2):c.839T>C (p.Met280Thr)
NM_000548.5(TSC2):c.848+143G>T rs78160478
NM_000548.5(TSC2):c.848+1G>A rs45466296
NM_000548.5(TSC2):c.848+281C>T rs45517132
NM_000548.5(TSC2):c.848+2T>G rs1555499119
NM_000548.5(TSC2):c.849-13G>A rs886051787
NM_000548.5(TSC2):c.849-1G>A rs45506396
NM_000548.5(TSC2):c.855C>G (p.Tyr285Ter) rs794726983
NM_000548.5(TSC2):c.855C>T (p.Tyr285=) rs794726983
NM_000548.5(TSC2):c.87_105del (p.Ser30fs) rs1596234235
NM_000548.5(TSC2):c.890T>G (p.Phe297Cys) rs1567415441
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter) rs45517140
NM_000548.5(TSC2):c.911G>T (p.Trp304Leu)
NM_000548.5(TSC2):c.919C>T (p.His307Tyr) rs1279645051
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly) rs201144475
NM_000548.5(TSC2):c.925C>T (p.Leu309Phe) rs1258567486
NM_000548.5(TSC2):c.926T>C (p.Leu309Pro) rs75348431
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys) rs878854122
NM_000548.5(TSC2):c.930T>A (p.Tyr310Ter) rs886041758
NM_000548.5(TSC2):c.931T>C (p.Ser311Pro)
NM_000548.5(TSC2):c.947C>T (p.Pro316Leu) rs751490043
NM_000548.5(TSC2):c.950C>T (p.Thr317Ile) rs1596289105
NM_000548.5(TSC2):c.953C>T (p.Ser318Phe) rs1060500970
NM_000548.5(TSC2):c.96G>A (p.Glu32=) rs1567380772
NM_000548.5(TSC2):c.975+15G>T rs753334357
NM_000548.5(TSC2):c.975+187_975+188dup rs10592762
NM_000548.5(TSC2):c.975+7C>G rs372463702
NM_000548.5(TSC2):c.976-10C>A rs765990217
NM_000548.5(TSC2):c.976-15G>A rs45517150
NM_000548.5(TSC2):c.994G>C (p.Glu332Gln) rs911600402
NM_000548.5(TSC2):c.995A>G (p.Glu332Gly)
Single allele

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