ClinVar Miner

List of variants in gene TSC2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 724
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.226-338C>T rs2516735 0.03209
NM_000548.5(TSC2):c.3883+78G>A rs1800705 0.02672
NM_000548.5(TSC2):c.2355+214G>T rs117996133 0.02481
NM_000548.5(TSC2):c.2966+217G>T rs118124428 0.01902
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.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.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.3610+171A>G rs138163125 0.00985
NM_000548.5(TSC2):c.1444-100A>G rs114861515 0.00958
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.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.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.600-84C>T rs35364892 0.00754
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.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.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.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.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.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.975+214T>C rs183097117 0.00360
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
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.3611-59G>A rs189285826 0.00302
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_000548.5(TSC2):c.2742+13C>T rs45517260 0.00065
NM_000548.5(TSC2):c.5068+40G>A rs185211341 0.00061
NM_000548.5(TSC2):c.4989+15G>A rs199610889 0.00052
NM_000548.5(TSC2):c.975+13C>T rs200564575 0.00051
NM_000548.5(TSC2):c.1717-30G>A rs45500703 0.00038
NM_000548.5(TSC2):c.482-27C>T rs200473689 0.00037
NM_000548.5(TSC2):c.1512C>G (p.Val504=) rs146359990 0.00035
NM_000548.5(TSC2):c.4850-19C>T rs45517376 0.00032
NM_000548.5(TSC2):c.5068+9G>A rs45445593 0.00029
NM_000548.5(TSC2):c.1120-17C>T rs201704675 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.5244G>A (p.Lys1748=) rs150038278 0.00024
NM_000548.5(TSC2):c.2742+14C>T rs765251896 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.3429C>T (p.Asp1143=) rs45487691 0.00019
NM_000548.5(TSC2):c.3892G>A (p.Val1298Met) rs147284943 0.00019
NM_000548.5(TSC2):c.4662+17G>A rs45443002 0.00019
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695 0.00019
NM_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.1244C>T (p.Ala415Val) rs374936223 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.3888C>T (p.Ser1296=) rs141252704 0.00016
NM_000548.5(TSC2):c.552C>T (p.Val184=) rs199991910 0.00016
NM_000548.5(TSC2):c.649-9C>G rs781099543 0.00016
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg) rs137854215 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.3491C>T (p.Ala1164Val) rs45448801 0.00014
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409 0.00014
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_000548.5(TSC2):c.4398G>T (p.Ser1466=) rs376086638 0.00013
NM_000548.5(TSC2):c.4447A>G (p.Arg1483Gly) rs199644840 0.00013
NM_000548.5(TSC2):c.1599+10G>A rs376692777 0.00012
NM_000548.5(TSC2):c.2546-5C>T rs45517247 0.00012
NM_000548.5(TSC2):c.3611-4G>A rs368926908 0.00012
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481 0.00012
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510 0.00012
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His) rs142848358 0.00012
NM_000548.5(TSC2):c.4493+16C>G rs45491597 0.00012
NM_000548.5(TSC2):c.1946+20C>T rs372149311 0.00011
NM_000548.5(TSC2):c.3832C>T (p.Leu1278=) rs374146919 0.00011
NM_000548.5(TSC2):c.4226G>A (p.Arg1409Gln) rs768684515 0.00011
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu) rs45514391 0.00011
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=) rs367703283 0.00011
NM_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.2743-9C>T rs397515319 0.00009
NM_000548.5(TSC2):c.3990G>A (p.Thr1330=) rs369943684 0.00009
NM_000548.5(TSC2):c.4006-19T>G rs200900825 0.00009
NM_000548.5(TSC2):c.481+12C>T rs777645015 0.00009
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152 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.3779C>T (p.Thr1260Met) rs776738338 0.00008
NM_000548.5(TSC2):c.3815-16C>T rs546810161 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.1120-16G>A rs768241936 0.00007
NM_000548.5(TSC2):c.2220+12G>A rs780039835 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.4851C>T (p.Ala1617=) rs556045045 0.00007
NM_000548.5(TSC2):c.5259+9T>C rs1057522018 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.710C>T (p.Pro237Leu) rs139060277 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.2546-6C>T rs372088609 0.00006
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile) rs146745242 0.00006
NM_000548.5(TSC2):c.3666C>T (p.Asp1222=) rs749870079 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.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.5368G>A (p.Val1790Met) rs200140994 0.00006
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His) rs137854288 0.00006
NM_000548.5(TSC2):c.600-15C>T rs369708731 0.00006
NM_000548.5(TSC2):c.618C>T (p.Cys206=) rs45498496 0.00006
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp) rs45517130 0.00006
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr) rs373818076 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.2584G>A (p.Ala862Thr) rs759837836 0.00005
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) rs397515046 0.00005
NM_000548.5(TSC2):c.282G>A (p.Pro94=) rs145624233 0.00005
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062 0.00005
NM_000548.5(TSC2):c.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.1245G>A (p.Ala415=) rs757325185 0.00004
NM_000548.5(TSC2):c.1303C>T (p.His435Tyr) rs760896048 0.00004
NM_000548.5(TSC2):c.1365C>T (p.Ser455=) rs34567401 0.00004
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694 0.00004
NM_000548.5(TSC2):c.1600-9T>C rs886043268 0.00004
NM_000548.5(TSC2):c.1716+16G>A rs45517189 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.2163G>A (p.Val721=) rs552644975 0.00004
NM_000548.5(TSC2):c.2392C>T (p.His798Tyr) rs375809212 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.2742+15G>A rs45517261 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.2887G>A (p.Val963Met) rs45517275 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.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.3710C>T (p.Ala1237Val) rs753907159 0.00004
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile) rs201135184 0.00004
NM_000548.5(TSC2):c.3884-16G>A rs544004178 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.4108C>T (p.Pro1370Ser) rs747293303 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.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.5095G>A (p.Val1699Met) rs370864445 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.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.861G>C (p.Glu287Asp) rs192567788 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.1257+17G>T rs369939081 0.00003
NM_000548.5(TSC2):c.1258-5G>T rs925954967 0.00003
NM_000548.5(TSC2):c.1308G>A (p.Pro436=) rs753764275 0.00003
NM_000548.5(TSC2):c.1317C>T (p.Asp439=) rs777457815 0.00003
NM_000548.5(TSC2):c.139-15T>G rs563094714 0.00003
NM_000548.5(TSC2):c.1443+14C>T rs753454333 0.00003
NM_000548.5(TSC2):c.1600-10C>T rs768188836 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.1815A>G (p.Pro605=) rs961687056 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.1946+7G>A rs759576009 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.2098-13C>T rs375903453 0.00003
NM_000548.5(TSC2):c.2355+20C>T rs1031112467 0.00003
NM_000548.5(TSC2):c.2511C>G (p.Ala837=) rs145351030 0.00003
NM_000548.5(TSC2):c.2545+9C>G rs369385105 0.00003
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val) rs45517249 0.00003
NM_000548.5(TSC2):c.2837+12G>A rs755041349 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.325G>A (p.Val109Met) rs369932305 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.3492G>A (p.Ala1164=) rs769562717 0.00003
NM_000548.5(TSC2):c.3585G>A (p.Ala1195=) rs761232933 0.00003
NM_000548.5(TSC2):c.3663G>A (p.Ser1221=) rs137854268 0.00003
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys) rs137854391 0.00003
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=) rs749057825 0.00003
NM_000548.5(TSC2):c.4167C>T (p.Pro1389=) rs45508504 0.00003
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu) rs137854406 0.00003
NM_000548.5(TSC2):c.431A>G (p.Lys144Arg) rs769286175 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.454C>G (p.His152Asp) rs397515285 0.00003
NM_000548.5(TSC2):c.4602C>T (p.Leu1534=) rs368534883 0.00003
NM_000548.5(TSC2):c.4663-14C>T rs397515174 0.00003
NM_000548.5(TSC2):c.481+8C>T rs758228838 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.5266G>A (p.Glu1756Lys) rs375075952 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_000548.5(TSC2):c.583A>G (p.Ile195Val) rs148325559 0.00003
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr) rs45517113 0.00003
NM_000548.5(TSC2):c.627C>T (p.Thr209=) rs776293094 0.00003
NM_000548.5(TSC2):c.649-20G>A rs377558380 0.00003
NM_000548.5(TSC2):c.672C>T (p.Ala224=) rs138897064 0.00003
NM_000548.5(TSC2):c.734G>A (p.Arg245His) rs397515011 0.00003
NM_000548.5(TSC2):c.101A>C (p.Lys34Thr) rs777988634 0.00002
NM_000548.5(TSC2):c.1071G>A (p.Ala357=) rs776395163 0.00002
NM_000548.5(TSC2):c.1093A>G (p.Ile365Val) rs370403197 0.00002
NM_000548.5(TSC2):c.1257+8C>A rs767392684 0.00002
NM_000548.5(TSC2):c.1258-16G>T rs979174870 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.1775G>A (p.Ser592Asn) rs374371998 0.00002
NM_000548.5(TSC2):c.1806C>T (p.Tyr602=) rs367553206 0.00002
NM_000548.5(TSC2):c.1818C>T (p.Ile606=) rs547389841 0.00002
NM_000548.5(TSC2):c.1842C>G (p.Ala614=) rs201575136 0.00002
NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln) rs753932484 0.00002
NM_000548.5(TSC2):c.1977C>T (p.Thr659=) rs369065703 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.226-13C>T rs886038353 0.00002
NM_000548.5(TSC2):c.2358C>T (p.Arg786=) rs372834284 0.00002
NM_000548.5(TSC2):c.2457C>T (p.Ile819=) rs753410949 0.00002
NM_000548.5(TSC2):c.2628C>T (p.Thr876=) rs778678783 0.00002
NM_000548.5(TSC2):c.2639+11G>A rs1057520919 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.2742+4G>A rs587781683 0.00002
NM_000548.5(TSC2):c.2948C>G (p.Ser983Cys) rs759786102 0.00002
NM_000548.5(TSC2):c.2966+19G>T rs377514748 0.00002
NM_000548.5(TSC2):c.2968A>G (p.Arg990Gly) rs753730009 0.00002
NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn) rs149808366 0.00002
NM_000548.5(TSC2):c.3039T>C (p.Asp1013=) rs149098424 0.00002
NM_000548.5(TSC2):c.3117G>A (p.Thr1039=) rs747104674 0.00002
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=) rs749633483 0.00002
NM_000548.5(TSC2):c.3520C>T (p.Arg1174Trp) rs529298825 0.00002
NM_000548.5(TSC2):c.3526C>T (p.Pro1176Ser) rs1326077397 0.00002
NM_000548.5(TSC2):c.3534G>A (p.Gln1178=) rs201305783 0.00002
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val) rs1060500939 0.00002
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg) rs767059758 0.00002
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=) rs201599540 0.00002
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val) rs749367382 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.3993T>A (p.Asp1331Glu) rs776049462 0.00002
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys) rs397515035 0.00002
NM_000548.5(TSC2):c.4155C>G (p.Ser1385=) rs1057521540 0.00002
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=) rs911307922 0.00002
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=) rs886051794 0.00002
NM_000548.5(TSC2):c.4298C>T (p.Ser1433Leu) rs45517335 0.00002
NM_000548.5(TSC2):c.4494-11dup rs770333078 0.00002
NM_000548.5(TSC2):c.4552A>G (p.Ile1518Val) rs764903148 0.00002
NM_000548.5(TSC2):c.4590G>A (p.Ser1530=) rs377377367 0.00002
NM_000548.5(TSC2):c.4662+16C>T rs45517356 0.00002
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=) rs151140709 0.00002
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn) rs45482398 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.5160+7G>C rs45506600 0.00002
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys) rs781630603 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.5396C>T (p.Ser1799Leu) rs778484981 0.00002
NM_000548.5(TSC2):c.648+14C>T rs941595244 0.00002
NM_000548.5(TSC2):c.657G>A (p.Leu219=) rs768570301 0.00002
NM_000548.5(TSC2):c.663G>A (p.Val221=) rs774115464 0.00002
NM_000548.5(TSC2):c.721G>A (p.Val241Ile) rs200943828 0.00002
NM_000548.5(TSC2):c.945G>A (p.Ser315=) rs763948768 0.00002
NM_000548.5(TSC2):c.975+7C>T rs372463702 0.00002
NM_000548.5(TSC2):c.*4C>T rs368282661 0.00001
NM_000548.5(TSC2):c.-29-18C>T rs1319033169 0.00001
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala) rs757113497 0.00001
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483 0.00001
NM_000548.5(TSC2):c.1194C>T (p.Asn398=) rs369172347 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.1361+13C>T rs900870796 0.00001
NM_000548.5(TSC2):c.1361+20C>G rs538626543 0.00001
NM_000548.5(TSC2):c.1362-5C>T rs372424945 0.00001
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys) rs397515142 0.00001
NM_000548.5(TSC2):c.1398G>A (p.Leu466=) rs200702857 0.00001
NM_000548.5(TSC2):c.1440T>C (p.Tyr480=) rs45514794 0.00001
NM_000548.5(TSC2):c.1455T>C (p.Ile485=) rs1239743041 0.00001
NM_000548.5(TSC2):c.1473G>A (p.Ser491=) rs764767361 0.00001
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys) rs45517178 0.00001
NM_000548.5(TSC2):c.1534C>G (p.Leu512Val) rs772834557 0.00001
NM_000548.5(TSC2):c.1653C>T (p.Ala551=) rs202171361 0.00001
NM_000548.5(TSC2):c.1717-16C>T rs45517191 0.00001
NM_000548.5(TSC2):c.1717-6C>T rs1596335934 0.00001
NM_000548.5(TSC2):c.1800C>T (p.His600=) rs762782913 0.00001
NM_000548.5(TSC2):c.1839+10C>T rs868388786 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+6C>T rs754069880 0.00001
NM_000548.5(TSC2):c.1983C>T (p.Gly661=) rs1270679683 0.00001
NM_000548.5(TSC2):c.2028C>T (p.Gly676=) rs1057520807 0.00001
NM_000548.5(TSC2):c.2030C>T (p.Pro677Leu) rs376974525 0.00001
NM_000548.5(TSC2):c.2035G>A (p.Val679Met) rs746315218 0.00001
NM_000548.5(TSC2):c.2038C>T (p.Arg680Trp) rs876658578 0.00001
NM_000548.5(TSC2):c.2046G>A (p.Gly682=) rs749536123 0.00001
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=) rs1186913814 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.2147C>T (p.Ser716Phe) rs781153452 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.2355+5G>A rs756995937 0.00001
NM_000548.5(TSC2):c.2355+6A>T rs904030973 0.00001
NM_000548.5(TSC2):c.2355+8G>A rs199558375 0.00001
NM_000548.5(TSC2):c.2356-4G>A rs201156748 0.00001
NM_000548.5(TSC2):c.2415C>T (p.Val805=) rs45517235 0.00001
NM_000548.5(TSC2):c.2416G>A (p.Val806Met) rs796053473 0.00001
NM_000548.5(TSC2):c.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.2546-10A>G rs551894111 0.00001
NM_000548.5(TSC2):c.2546-4G>A rs746958032 0.00001
NM_000548.5(TSC2):c.2553C>T (p.Ala851=) rs745687916 0.00001
NM_000548.5(TSC2):c.2562G>A (p.Pro854=) rs779606786 0.00001
NM_000548.5(TSC2):c.256G>A (p.Ala86Thr) rs1190158836 0.00001
NM_000548.5(TSC2):c.2586G>A (p.Ala862=) rs752865665 0.00001
NM_000548.5(TSC2):c.2601T>C (p.Ser867=) rs878854086 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.273G>A (p.Pro91=) rs772296140 0.00001
NM_000548.5(TSC2):c.2743-16G>A rs896016432 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.2778C>T (p.Asp926=) rs776069297 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.2961C>G (p.Val987=) rs775637322 0.00001
NM_000548.5(TSC2):c.2998T>C (p.Leu1000=) rs756679047 0.00001
NM_000548.5(TSC2):c.3088A>G (p.Met1030Val) rs754276150 0.00001
NM_000548.5(TSC2):c.3131+8C>T rs763702215 0.00001
NM_000548.5(TSC2):c.3132-13C>T rs371948435 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.3284+20C>T rs1057521477 0.00001
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu) rs773545852 0.00001
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=) rs150126331 0.00001
NM_000548.5(TSC2):c.3318G>A (p.Lys1106=) rs1060504119 0.00001
NM_000548.5(TSC2):c.336+8C>T rs779174834 0.00001
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) rs778352969 0.00001
NM_000548.5(TSC2):c.3374G>A (p.Arg1125Gln) rs796053475 0.00001
NM_000548.5(TSC2):c.3397+15C>T rs202246408 0.00001
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu) rs397515162 0.00001
NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln) rs368666554 0.00001
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=) rs139313964 0.00001
NM_000548.5(TSC2):c.3554C>T (p.Ala1185Val) rs1057521812 0.00001
NM_000548.5(TSC2):c.3634C>T (p.Leu1212=) rs1358537146 0.00001
NM_000548.5(TSC2):c.3639G>A (p.Glu1213=) rs747862818 0.00001
NM_000548.5(TSC2):c.3648C>T (p.Leu1216=) rs777246414 0.00001
NM_000548.5(TSC2):c.3675C>T (p.Asn1225=) rs1483188996 0.00001
NM_000548.5(TSC2):c.3690G>A (p.Glu1230=) rs876659207 0.00001
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=) rs754945653 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.3814+10A>G rs200309006 0.00001
NM_000548.5(TSC2):c.3814+15G>A rs201225719 0.00001
NM_000548.5(TSC2):c.3815-18C>A rs947736117 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.4067G>A (p.Gly1356Asp) rs747104864 0.00001
NM_000548.5(TSC2):c.408T>G (p.Leu136=) rs1037058497 0.00001
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=) rs769653533 0.00001
NM_000548.5(TSC2):c.4176G>A (p.Gln1392=) rs749930791 0.00001
NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser) rs778147657 0.00001
NM_000548.5(TSC2):c.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.4275G>A (p.Gly1425=) rs1057522238 0.00001
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val) rs757579310 0.00001
NM_000548.5(TSC2):c.429C>T (p.Phe143=) rs137854406 0.00001
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=) rs536527623 0.00001
NM_000548.5(TSC2):c.433G>A (p.Ala145Thr) rs774892845 0.00001
NM_000548.5(TSC2):c.4348C>G (p.Pro1450Ala) rs376381196 0.00001
NM_000548.5(TSC2):c.4385C>G (p.Thr1462Ser) rs373018205 0.00001
NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser) rs558737770 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.4494-12C>T rs780056359 0.00001
NM_000548.5(TSC2):c.4497C>T (p.Phe1499=) rs372974007 0.00001
NM_000548.5(TSC2):c.4534G>A (p.Asp1512Asn) rs774441486 0.00001
NM_000548.5(TSC2):c.4569+6C>T rs756614796 0.00001
NM_000548.5(TSC2):c.4570-3C>T rs1166715944 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.4746C>T (p.Ile1582=) rs751305758 0.00001
NM_000548.5(TSC2):c.481+9C>T rs201026150 0.00001
NM_000548.5(TSC2):c.482-17C>T rs201589515 0.00001
NM_000548.5(TSC2):c.482-4C>T rs780938957 0.00001
NM_000548.5(TSC2):c.4833C>T (p.His1611=) rs765271161 0.00001
NM_000548.5(TSC2):c.4850-8A>G rs372258482 0.00001
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) rs886051796 0.00001
NM_000548.5(TSC2):c.4989+12G>A rs1343916460 0.00001
NM_000548.5(TSC2):c.4989+5G>A rs1057522671 0.00001
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=) rs876658185 0.00001
NM_000548.5(TSC2):c.5058G>A (p.Gln1686=) rs200700923 0.00001
NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr) rs45474691 0.00001
NM_000548.5(TSC2):c.5120A>G (p.Asn1707Ser) rs772439098 0.00001
NM_000548.5(TSC2):c.5161-12C>G rs1555440351 0.00001
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val) rs45517407 0.00001
NM_000548.5(TSC2):c.5196C>T (p.Pro1732=) rs910514279 0.00001
NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val) rs781407050 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.5232C>T (p.Leu1744=) rs772865175 0.00001
NM_000548.5(TSC2):c.5260-13C>T rs1413775764 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.5336A>G (p.Gln1779Arg) rs748947919 0.00001
NM_000548.5(TSC2):c.5337G>A (p.Gln1779=) rs768237144 0.00001
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg) rs770117004 0.00001
NM_000548.5(TSC2):c.5363A>G (p.Tyr1788Cys) rs397515221 0.00001
NM_000548.5(TSC2):c.5370G>C (p.Val1790=) rs762032752 0.00001
NM_000548.5(TSC2):c.5389A>C (p.Ile1797Leu) rs796053479 0.00001
NM_000548.5(TSC2):c.577G>A (p.Glu193Lys) rs45517112 0.00001
NM_000548.5(TSC2):c.599+10G>C rs1037449903 0.00001
NM_000548.5(TSC2):c.629C>T (p.Ala210Val) rs764925296 0.00001
NM_000548.5(TSC2):c.648+17C>A rs755431618 0.00001
NM_000548.5(TSC2):c.648+19C>T rs1196860918 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.739A>G (p.Ile247Val) rs774526017 0.00001
NM_000548.5(TSC2):c.775-12T>C rs753920940 0.00001
NM_000548.5(TSC2):c.775-17C>T rs137854299 0.00001
NM_000548.5(TSC2):c.807C>T (p.Gly269=) rs1297815371 0.00001
NM_000548.5(TSC2):c.837C>T (p.Leu279=) rs746694709 0.00001
NM_000548.5(TSC2):c.83C>A (p.Pro28His) rs1057522105 0.00001
NM_000548.5(TSC2):c.848+13G>T rs1402619251 0.00001
NM_000548.5(TSC2):c.848+19G>A rs1044793633 0.00001
NM_000548.5(TSC2):c.848+20C>T rs1459744028 0.00001
NM_000548.5(TSC2):c.857T>C (p.Met286Thr) rs45517136 0.00001
NM_000548.5(TSC2):c.867G>A (p.Ala289=) rs375163125 0.00001
NM_000548.5(TSC2):c.885C>T (p.Ala295=) rs778296481 0.00001
NM_000548.5(TSC2):c.976-10C>T rs765990217 0.00001
NM_000548.5(TSC2):c.976-3C>T rs45517151 0.00001
NM_000548.5(TSC2):c.990G>A (p.Pro330=) rs752141469 0.00001
NM_000548.5(TSC2):c.*55TAAA[1] rs137854184
NM_000548.5(TSC2):c.-29-17C>T rs201044312
NM_000548.5(TSC2):c.1032G>A (p.Arg344=) rs1057524033
NM_000548.5(TSC2):c.1077C>T (p.Asp359=) rs1555500558
NM_000548.5(TSC2):c.1083G>A (p.Leu361=) rs1057524138
NM_000548.5(TSC2):c.1101G>C (p.Arg367=) rs45517149
NM_000548.5(TSC2):c.1112A>G (p.Gln371Arg) rs1555500581
NM_000548.5(TSC2):c.1119+6_1119+28del rs1358834036
NM_000548.5(TSC2):c.1131C>G (p.Ser377Arg) rs201525586
NM_000548.5(TSC2):c.1257+10C>T rs756063576
NM_000548.5(TSC2):c.1258-10C>G rs794727093
NM_000548.5(TSC2):c.1258-10_1258-8del rs767749967
NM_000548.5(TSC2):c.1260G>A (p.Glu420=) rs876658585
NM_000548.5(TSC2):c.1308G>C (p.Pro436=) rs753764275
NM_000548.5(TSC2):c.1311C>A (p.Ala437=) rs752435039
NM_000548.5(TSC2):c.1362-4G>A rs397515145
NM_000548.5(TSC2):c.1362G>C (p.Arg454Ser) rs374252944
NM_000548.5(TSC2):c.138+16G>A rs1555494744
NM_000548.5(TSC2):c.1443+14C>A rs753454333
NM_000548.5(TSC2):c.1443+5G>A rs1057521562
NM_000548.5(TSC2):c.1443+65T>G rs115599333
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys) rs200532154
NM_000548.5(TSC2):c.1479C>T (p.Leu493=) rs137854145
NM_000548.5(TSC2):c.153A>G (p.Glu51=) rs746366461
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn) rs376573446
NM_000548.5(TSC2):c.1593C>G (p.Ile531Met) rs45517180
NM_000548.5(TSC2):c.1599+82_1599+84del rs397515135
NM_000548.5(TSC2):c.1600-14C>A rs45517185
NM_000548.5(TSC2):c.1626C>A (p.Pro542=) rs376234285
NM_000548.5(TSC2):c.1716+15C>T rs199964793
NM_000548.5(TSC2):c.1717-12CT[3] rs769094940
NM_000548.5(TSC2):c.1717-15G>A rs372949465
NM_000548.5(TSC2):c.1717-20G>T rs1555505006
NM_000548.5(TSC2):c.1728C>T (p.Tyr576=) rs966102111
NM_000548.5(TSC2):c.1740A>C (p.Ala580=) rs1057522755
NM_000548.5(TSC2):c.1746C>T (p.His582=) rs876658921
NM_000548.5(TSC2):c.1839+269G>A rs116085243
NM_000548.5(TSC2):c.1840-13C>G rs1186556063
NM_000548.5(TSC2):c.1840-4A>G rs1057523736
NM_000548.5(TSC2):c.1868C>T (p.Ala623Val) rs1057522306
NM_000548.5(TSC2):c.1869C>G (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile) rs746677177
NM_000548.5(TSC2):c.1946+14C>T rs765322549
NM_000548.5(TSC2):c.1967AGA[2] (p.Lys658del) rs137854104
NM_000548.5(TSC2):c.1980C>T (p.Ser660=) rs959705365
NM_000548.5(TSC2):c.2001A>G (p.Thr667=) rs1412129753
NM_000548.5(TSC2):c.2025A>C (p.Ala675=) rs766113544
NM_000548.5(TSC2):c.2097+16_2097+20del rs1064794392
NM_000548.5(TSC2):c.2098-5C>G rs369072310
NM_000548.5(TSC2):c.2098-5C>T rs369072310
NM_000548.5(TSC2):c.2098-6T>C rs1057523252
NM_000548.5(TSC2):c.2136G>A (p.Arg712=) rs995073369
NM_000548.5(TSC2):c.2153G>A (p.Arg718His) rs45517215
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_000548.5(TSC2):c.2193C>T (p.Asp731=) rs760053529
NM_000548.5(TSC2):c.2220+20del rs1555506624
NM_000548.5(TSC2):c.2235G>A (p.Lys745=) rs762162898
NM_000548.5(TSC2):c.225+19G>A rs980875984
NM_000548.5(TSC2):c.231A>C (p.Ala77=) rs2151026046
NM_000548.5(TSC2):c.2328C>T (p.Tyr776=) rs45517225
NM_000548.5(TSC2):c.2490C>G (p.Leu830=) rs768573698
NM_000548.5(TSC2):c.2545+18C>T rs771970930
NM_000548.5(TSC2):c.2545+244C>A rs143553665
NM_000548.5(TSC2):c.2545+244C>G rs143553665
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.2577C>T (p.Asn859=) rs1555508337
NM_000548.5(TSC2):c.2616C>T (p.Ser872=) rs779843919
NM_000548.5(TSC2):c.2622G>T (p.Pro874=) rs141486629
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2639+14C>G rs1057520927
NM_000548.5(TSC2):c.2639+6T>C rs2151382514
NM_000548.5(TSC2):c.2640-74G>A rs143128054
NM_000548.5(TSC2):c.2658G>A (p.Val886=) rs1035837417
NM_000548.5(TSC2):c.2742+20A>C rs1057521395
NM_000548.5(TSC2):c.2742+6C>G rs377568673
NM_000548.5(TSC2):c.2743-10A>G rs1060504094
NM_000548.5(TSC2):c.2743-18G>A rs199539512
NM_000548.5(TSC2):c.2751G>A (p.Arg917=) rs1555508897
NM_000548.5(TSC2):c.2760C>T (p.Val920=) rs149490538
NM_000548.5(TSC2):c.2784C>G (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.2837+5G>A rs786203791
NM_000548.5(TSC2):c.2868del (p.Gly956_Leu957insTer) rs1057518322
NM_000548.5(TSC2):c.2916C>T (p.Ala972=) rs751474097
NM_000548.5(TSC2):c.2982C>A (p.Ser994=) rs1555510188
NM_000548.5(TSC2):c.3030G>A (p.Gln1010=) rs776658284
NM_000548.5(TSC2):c.3102C>G (p.Val1034=) rs562998574
NM_000548.5(TSC2):c.3126G>A (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.31T>C (p.Leu11=) rs978517404
NM_000548.5(TSC2):c.31_33delinsCTA (p.Leu11=) rs1064794201
NM_000548.5(TSC2):c.3210G>T (p.Thr1070=) rs539927192
NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe) rs371514669
NM_000548.5(TSC2):c.3267G>A (p.Gln1089=) rs1555510717
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu) rs397514887
NM_000548.5(TSC2):c.3323C>T (p.Ala1108Val) rs587781782
NM_000548.5(TSC2):c.3326C>T (p.Pro1109Leu) rs796053474
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu) rs1053311636
NM_000548.5(TSC2):c.336+33G>T rs45517104
NM_000548.5(TSC2):c.339C>T (p.Gly113=) rs368451664
NM_000548.5(TSC2):c.3425T>C (p.Leu1142Pro) rs796053513
NM_000548.5(TSC2):c.3428A>T (p.Asp1143Val) rs796053495
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.5(TSC2):c.3519C>T (p.Thr1173=) rs754306983
NM_000548.5(TSC2):c.3565C>G (p.Leu1189Val) rs796053476
NM_000548.5(TSC2):c.3610+226C>T rs182662506
NM_000548.5(TSC2):c.3611-11C>T rs375617364
NM_000548.5(TSC2):c.3611-4G>T rs368926908
NM_000548.5(TSC2):c.3611-5C>T rs200194551
NM_000548.5(TSC2):c.3618C>G (p.Thr1206=) rs1057522260
NM_000548.5(TSC2):c.3681C>T (p.Pro1227=) rs181279399
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=) rs777489742
NM_000548.5(TSC2):c.3846_3854del (p.Ser1282_Gly1285delinsArg) rs997331401
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.3996C>A (p.Ala1332=) rs1421997373
NM_000548.5(TSC2):c.4005+153T>A rs28535326
NM_000548.5(TSC2):c.4006-12G>A rs1057524490
NM_000548.5(TSC2):c.4027GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.4029G>C (p.Glu1343Asp) rs752502287
NM_000548.5(TSC2):c.4041C>T (p.Leu1347=) rs1060504109
NM_000548.5(TSC2):c.4056G>C (p.Leu1352=) rs772309833
NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly) rs1555513911
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.5(TSC2):c.4107G>C (p.Arg1369=) rs201688447
NM_000548.5(TSC2):c.4143C>T (p.Pro1381=) rs1555514056
NM_000548.5(TSC2):c.4165C>T (p.Pro1389Ser) rs1057520843
NM_000548.5(TSC2):c.4167C>G (p.Pro1389=) rs45508504
NM_000548.5(TSC2):c.4198G>A (p.Asp1400Asn) rs762368225
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.4351C>T (p.Arg1451Cys) rs369553241
NM_000548.5(TSC2):c.4398G>A (p.Ser1466=) rs376086638
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His) rs45517343
NM_000548.5(TSC2):c.4494-15C>G rs993595235
NM_000548.5(TSC2):c.4569+46C>T rs45482793
NM_000548.5(TSC2):c.4570-21_4570-11dup rs137854040
NM_000548.5(TSC2):c.4570-66G>A rs45496499
NM_000548.5(TSC2):c.4663-11_4663-5del rs760527750
NM_000548.5(TSC2):c.4663-20CCTCTCC[3] rs760527750
NM_000548.5(TSC2):c.4684C>T (p.Leu1562=) rs1057523304
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.482-20T>A rs548831116
NM_000548.5(TSC2):c.4849+20C>T rs140884776
NM_000548.5(TSC2):c.4849+3A>G rs1057521378
NM_000548.5(TSC2):c.486C>T (p.Asp162=) rs45473598
NM_000548.5(TSC2):c.4917C>T (p.Arg1639=) rs1057524144
NM_000548.5(TSC2):c.4947C>G (p.Val1649=) rs778989782
NM_000548.5(TSC2):c.4989+244G>C rs28721933
NM_000548.5(TSC2):c.4989+6_4989+9del rs1262967003
NM_000548.5(TSC2):c.4990-58G>A rs116828573
NM_000548.5(TSC2):c.4990-5G>T rs753000765
NM_000548.5(TSC2):c.4992C>T (p.Gly1664=) rs145002269
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5069-14_5069-12del rs397514923
NM_000548.5(TSC2):c.5069-26_5069-6delinsGCCAAGAG rs1555439968
NM_000548.5(TSC2):c.5090C>A (p.Thr1697Asn) rs777223264
NM_000548.5(TSC2):c.5161-28_5161-25del rs1799758
NM_000548.5(TSC2):c.5217G>A (p.Lys1739=) rs1596460659
NM_000548.5(TSC2):c.5262C>A (p.Ile1754=) rs397515318
NM_000548.5(TSC2):c.5268G>C (p.Glu1756Asp) rs755229386
NM_000548.5(TSC2):c.5316C>G (p.Ser1772=) rs2151639594
NM_000548.5(TSC2):c.5322C>T (p.Ser1774=) rs751622894
NM_000548.5(TSC2):c.5338A>C (p.Thr1780Pro) rs989487316
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.5355A>G (p.Thr1785=) rs1057522896
NM_000548.5(TSC2):c.599+3A>G rs397514899
NM_000548.5(TSC2):c.600-288_600-287del rs373314420
NM_000548.5(TSC2):c.649-12C>A rs1596277751
NM_000548.5(TSC2):c.716T>G (p.Phe239Cys) rs778544723
NM_000548.5(TSC2):c.775-14_775-13del rs1555499015
NM_000548.5(TSC2):c.775-16G>C rs1359566041
NM_000548.5(TSC2):c.831C>T (p.Cys277=) rs1057523424
NM_000548.5(TSC2):c.833A>G (p.His278Arg) rs397515266
NM_000548.5(TSC2):c.861G>A (p.Glu287=) rs192567788
NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln) rs137853986
NM_000548.5(TSC2):c.953C>T (p.Ser318Phe) rs1060500970
NM_000548.5(TSC2):c.975+16T>C rs769084318

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