ClinVar Miner

List of variants in gene TSC1 studied for Tuberous sclerosis 1

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Gene type:
ClinVar version:
Total variants: 3686
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.*1275T>G rs2809244 0.74384
NM_000368.5(TSC1):c.*3679G>A rs1050700 0.68068
NM_000368.5(TSC1):c.*1322C>T rs2809243 0.54889
NM_000368.5(TSC1):c.*1488C>T rs739442 0.43524
NM_000368.5(TSC1):c.*1372T>G rs58612431 0.26140
NM_000368.5(TSC1):c.2392-35T>C rs11243931 0.20073
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_000368.5(TSC1):c.1142-33A>G rs6597586 0.15388
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000368.5(TSC1):c.*1934A>G rs10491534 0.14325
NM_000368.5(TSC1):c.*4437G>A rs11553763 0.11942
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000368.5(TSC1):c.*2651G>T rs55660990 0.04112
NM_000368.5(TSC1):c.*913C>T rs117425923 0.03547
NM_000368.5(TSC1):c.*1487C>T rs79277527 0.02671
NM_000368.5(TSC1):c.*682C>T rs75252898 0.02584
NM_000368.5(TSC1):c.*2558A>G rs115516164 0.02571
NM_000368.5(TSC1):c.*376C>T rs114064768 0.02541
NM_000368.5(TSC1):c.*107T>C rs116917669 0.02353
NM_000368.5(TSC1):c.*1468C>T rs72759433 0.01681
NM_000368.5(TSC1):c.*1785A>G rs74362385 0.01398
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000368.5(TSC1):c.-129A>T rs116951280 0.01206
NM_000368.5(TSC1):c.*2418G>A rs114415181 0.01175
NM_000368.5(TSC1):c.*4057G>A rs17149898 0.01133
NM_000368.5(TSC1):c.*841C>T rs149902841 0.01013
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_000368.5(TSC1):c.210+33G>A rs118203350 0.00695
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_000368.5(TSC1):c.*2872G>A rs2106345 0.00508
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_000368.5(TSC1):c.*3952A>G rs114454155 0.00436
NM_000368.5(TSC1):c.*2461G>A rs73552806 0.00396
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_000368.5(TSC1):c.-99C>T rs114755636 0.00347
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_000368.5(TSC1):c.*3729G>T rs543396172 0.00309
NM_000368.5(TSC1):c.*1902T>G rs142038787 0.00285
NM_000368.5(TSC1):c.*2708G>C rs150433809 0.00280
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_000368.5(TSC1):c.2626-3_2626-2insTT rs760737807 0.00242
NM_000368.5(TSC1):c.*2354A>G rs114877981 0.00232
NM_000368.5(TSC1):c.*2109C>T rs73552808 0.00200
NM_000368.5(TSC1):c.*1127C>T rs139119563 0.00194
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000368.5(TSC1):c.106+15A>G rs80258442 0.00187
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_000368.5(TSC1):c.*2904G>T rs559978998 0.00163
NM_000368.5(TSC1):c.*2733A>G rs73552805 0.00162
NM_000368.5(TSC1):c.*2874G>A rs111832812 0.00158
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00155
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000368.5(TSC1):c.*2142T>C rs112314368 0.00135
NM_000368.5(TSC1):c.*3830C>T rs544931538 0.00120
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_000368.5(TSC1):c.876C>T (p.Val292=) rs116756594 0.00104
NM_000368.5(TSC1):c.552G>C (p.Val184=) rs118203397 0.00079
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln) rs118203543 0.00070
NM_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_000368.5(TSC1):c.*677G>C rs189890583 0.00069
NM_000368.5(TSC1):c.*358C>T rs147729052 0.00066
NM_000368.5(TSC1):c.*279T>G rs554637460 0.00061
NM_000368.5(TSC1):c.*1861G>A rs561511694 0.00060
NM_000368.5(TSC1):c.*3997G>A rs148982924 0.00060
NM_000368.5(TSC1):c.*3448C>T rs201092466 0.00056
NM_000368.5(TSC1):c.*4680G>T rs747969932 0.00055
NM_000368.5(TSC1):c.*3565C>T rs771494783 0.00048
NM_000368.5(TSC1):c.*3538A>G rs533324867 0.00041
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro) rs377598226 0.00041
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_000368.5(TSC1):c.1773G>A (p.Pro591=) rs146578402 0.00040
NM_000368.5(TSC1):c.2505C>T (p.Leu835=) rs112384441 0.00039
NM_000368.5(TSC1):c.*116A>G rs181486656 0.00038
NM_000368.5(TSC1):c.1998-19T>G rs184408837 0.00037
NM_000368.5(TSC1):c.2625+19G>A rs200135828 0.00037
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000368.5(TSC1):c.*3045A>G rs746365344 0.00035
NM_000368.5(TSC1):c.*3988G>A rs563835484 0.00034
NM_000368.5(TSC1):c.*405A>G rs560193480 0.00034
NM_000368.5(TSC1):c.*4447C>T rs112968492 0.00034
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000368.5(TSC1):c.737+20A>G rs764271835 0.00031
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_000368.5(TSC1):c.*2854T>C rs899761882 0.00029
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000368.5(TSC1):c.2626-4T>C rs777386691 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000368.5(TSC1):c.1264-12T>C rs118203508 0.00025
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp) rs118203723 0.00025
NM_000368.5(TSC1):c.810A>G (p.Ser270=) rs142336706 0.00025
NM_000368.5(TSC1):c.*2628G>C rs189852768 0.00024
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp) rs118203483 0.00022
NM_000368.5(TSC1):c.*4788A>C rs576342925 0.00021
NM_000368.5(TSC1):c.1677C>T (p.Cys559=) rs368317116 0.00021
NM_000368.5(TSC1):c.*1474G>A rs1013551475 0.00019
NM_000368.5(TSC1):c.*2094G>A rs534649062 0.00019
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000368.5(TSC1):c.*1251C>T rs773490178 0.00016
NM_000368.5(TSC1):c.1333+14G>A rs371733518 0.00016
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val) rs397514880 0.00016
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_000368.5(TSC1):c.201A>G (p.Pro67=) rs371555137 0.00016
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=) rs140352085 0.00016
NM_000368.5(TSC1):c.*3034T>C rs764220703 0.00015
NM_000368.5(TSC1):c.1333+13C>T rs118203516 0.00014
NM_000368.5(TSC1):c.2209-3T>C rs368309229 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000368.5(TSC1):c.249C>T (p.Ala83=) rs145783693 0.00013
NM_000368.5(TSC1):c.2502+18A>C rs200908079 0.00013
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164 0.00013
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr) rs118203721 0.00012
NM_000368.5(TSC1):c.467A>C (p.Asp156Ala) rs893232039 0.00012
NM_000368.5(TSC1):c.*1452A>C rs969974293 0.00011
NM_000368.5(TSC1):c.*499C>T rs530003850 0.00011
NM_000368.5(TSC1):c.*60T>G rs577329896 0.00011
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 0.00011
NM_000368.5(TSC1):c.210+18A>G rs118203349 0.00011
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln) rs118203692 0.00011
NM_000368.5(TSC1):c.-16G>A rs114970627 0.00010
NM_000368.5(TSC1):c.2423C>T (p.Ala808Val) rs756514375 0.00010
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779 0.00010
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=) rs118203751 0.00010
NM_000368.5(TSC1):c.1333+5A>G rs118203515 0.00009
NM_000368.5(TSC1):c.1438+6G>A rs118203530 0.00009
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557 0.00008
NM_000368.5(TSC1):c.1567G>C (p.Ala523Pro) rs118203548 0.00008
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln) rs549467159 0.00008
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser) rs537585211 0.00008
NM_000368.5(TSC1):c.851G>A (p.Arg284His) rs151309813 0.00008
NM_000368.5(TSC1):c.*4492T>C rs889436708 0.00007
NM_000368.5(TSC1):c.1051A>G (p.Met351Val) rs781312535 0.00007
NM_000368.5(TSC1):c.1302A>G (p.Arg434=) rs907840461 0.00007
NM_000368.5(TSC1):c.2209-9C>G rs118203660 0.00007
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=) rs200200869 0.00007
NM_000368.5(TSC1):c.*2168C>T rs532469694 0.00006
NM_000368.5(TSC1):c.*2724C>T rs749535135 0.00006
NM_000368.5(TSC1):c.*4254G>A rs139801034 0.00006
NM_000368.5(TSC1):c.*806T>C rs191614777 0.00006
NM_000368.5(TSC1):c.1047A>G (p.Pro349=) rs118203492 0.00006
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile) rs201452238 0.00006
NM_000368.5(TSC1):c.1209G>A (p.Ser403=) rs141184479 0.00006
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu) rs751247705 0.00006
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839 0.00006
NM_000368.5(TSC1):c.513C>T (p.His171=) rs377196837 0.00006
NM_000368.5(TSC1):c.625A>G (p.Met209Val) rs754980229 0.00006
NM_000368.5(TSC1):c.*824C>T rs886063613 0.00005
NM_000368.5(TSC1):c.1110A>T (p.Ser370=) rs371648887 0.00005
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val) rs372583166 0.00005
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000368.5(TSC1):c.231C>T (p.Asn77=) rs397514809 0.00005
NM_000368.5(TSC1):c.2391+14C>T rs757480492 0.00005
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln) rs200514807 0.00005
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser) rs76801599 0.00005
NM_000368.5(TSC1):c.3210G>A (p.Ala1070=) rs201165286 0.00005
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu) rs751126355 0.00005
NM_000368.5(TSC1):c.402G>A (p.Leu134=) rs147125501 0.00005
NM_000368.5(TSC1):c.479G>A (p.Arg160His) rs749979841 0.00005
NM_000368.5(TSC1):c.618T>C (p.His206=) rs118203415 0.00005
NM_000368.5(TSC1):c.73G>A (p.Val25Met) rs1230244328 0.00005
NM_000368.5(TSC1):c.853T>G (p.Phe285Val) rs377076733 0.00005
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg) rs375144225 0.00005
NM_000368.5(TSC1):c.946C>T (p.Arg316Trp) rs535868591 0.00005
NM_000368.5(TSC1):c.*1508A>G rs552190342 0.00004
NM_000368.5(TSC1):c.*1972A>C rs917117694 0.00004
NM_000368.5(TSC1):c.*2638C>T rs373845353 0.00004
NM_000368.5(TSC1):c.*4515G>A rs886063565 0.00004
NM_000368.5(TSC1):c.*4538A>G rs1036825417 0.00004
NM_000368.5(TSC1):c.110G>A (p.Arg37His) rs750441497 0.00004
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe) rs1461609607 0.00004
NM_000368.5(TSC1):c.1141+10T>C rs367601694 0.00004
NM_000368.5(TSC1):c.1263+15G>A rs765809001 0.00004
NM_000368.5(TSC1):c.1264-9T>C rs1399728684 0.00004
NM_000368.5(TSC1):c.1332A>G (p.Ser444=) rs773003016 0.00004
NM_000368.5(TSC1):c.1506C>T (p.Gly502=) rs772337076 0.00004
NM_000368.5(TSC1):c.1884A>G (p.Leu628=) rs1038140620 0.00004
NM_000368.5(TSC1):c.1974C>T (p.Asp658=) rs118203608 0.00004
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val) rs118203609 0.00004
NM_000368.5(TSC1):c.211-18G>C rs751712867 0.00004
NM_000368.5(TSC1):c.2209-18A>C rs754189843 0.00004
NM_000368.5(TSC1):c.2325C>T (p.Leu775=) rs1005558276 0.00004
NM_000368.5(TSC1):c.2478G>C (p.Leu826=) rs149719514 0.00004
NM_000368.5(TSC1):c.2922C>T (p.Leu974=) rs769389702 0.00004
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=) rs759047948 0.00004
NM_000368.5(TSC1):c.3402C>T (p.Asn1134=) rs769266225 0.00004
NM_000368.5(TSC1):c.738-20A>G rs397514824 0.00004
NM_000368.5(TSC1):c.912T>C (p.Tyr304=) rs118203466 0.00004
NM_000368.5(TSC1):c.*1000A>G rs886063610 0.00003
NM_000368.5(TSC1):c.*1680G>A rs532372427 0.00003
NM_000368.5(TSC1):c.-144G>A rs796053468 0.00003
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln) rs397514808 0.00003
NM_000368.5(TSC1):c.1113C>T (p.His371=) rs771217333 0.00003
NM_000368.5(TSC1):c.114C>G (p.Gly38=) rs776158461 0.00003
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) rs397514840 0.00003
NM_000368.5(TSC1):c.1317G>C (p.Leu439=) rs770692313 0.00003
NM_000368.5(TSC1):c.1334-16C>T rs373774544 0.00003
NM_000368.5(TSC1):c.1344T>G (p.Pro448=) rs530908428 0.00003
NM_000368.5(TSC1):c.1439-4T>C rs762473323 0.00003
NM_000368.5(TSC1):c.1585G>A (p.Ala529Thr) rs751125011 0.00003
NM_000368.5(TSC1):c.1635T>C (p.Pro545=) rs372284519 0.00003
NM_000368.5(TSC1):c.1721C>G (p.Thr574Ser) rs548002938 0.00003
NM_000368.5(TSC1):c.1878G>A (p.Glu626=) rs753424167 0.00003
NM_000368.5(TSC1):c.1888A>C (p.Lys630Gln) rs1158059433 0.00003
NM_000368.5(TSC1):c.1922C>A (p.Pro641His) rs397514863 0.00003
NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly) rs939275328 0.00003
NM_000368.5(TSC1):c.1997+18T>A rs750338319 0.00003
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln) rs1336228562 0.00003
NM_000368.5(TSC1):c.2503-15A>G rs752540347 0.00003
NM_000368.5(TSC1):c.2626-4_2626-3insTC rs1554813651 0.00003
NM_000368.5(TSC1):c.2677A>C (p.Ser893Arg) rs1396314595 0.00003
NM_000368.5(TSC1):c.2700G>A (p.Gln900=) rs560986491 0.00003
NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg) rs1433723046 0.00003
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys) rs200398750 0.00003
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val) rs202121327 0.00003
NM_000368.5(TSC1):c.3112A>G (p.Ser1038Gly) rs768443391 0.00003
NM_000368.5(TSC1):c.3129C>T (p.Ser1043=) rs201192125 0.00003
NM_000368.5(TSC1):c.3249T>C (p.Ser1083=) rs761673589 0.00003
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031 0.00003
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly) rs768624733 0.00003
NM_000368.5(TSC1):c.348A>C (p.Leu116Phe) rs755799702 0.00003
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr) rs1007335343 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000368.5(TSC1):c.65G>A (p.Arg22Gln) rs141736779 0.00003
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln) rs755859330 0.00003
NM_000368.5(TSC1):c.762T>C (p.Asp254=) rs780005416 0.00003
NM_000368.5(TSC1):c.798C>T (p.Pro266=) rs770704462 0.00003
NM_000368.5(TSC1):c.840A>G (p.Gln280=) rs1171852730 0.00003
NM_000368.5(TSC1):c.850C>T (p.Arg284Cys) rs140544652 0.00003
NM_000368.5(TSC1):c.87T>C (p.Phe29=) rs745384145 0.00003
NM_000368.5(TSC1):c.932C>G (p.Pro311Arg) rs776158460 0.00003
NM_000368.5(TSC1):c.941C>T (p.Thr314Met) rs373454700 0.00003
NM_000368.5(TSC1):c.942G>A (p.Thr314=) rs144208203 0.00003
NM_000368.5(TSC1):c.*1052G>A rs562950766 0.00002
NM_000368.5(TSC1):c.*2515T>C rs886878529 0.00002
NM_000368.5(TSC1):c.*2637C>G rs538802838 0.00002
NM_000368.5(TSC1):c.*2647C>T rs886063595 0.00002
NM_000368.5(TSC1):c.*3272A>G rs866920023 0.00002
NM_000368.5(TSC1):c.*4385G>T rs552453527 0.00002
NM_000368.5(TSC1):c.*448G>A rs886063617 0.00002
NM_000368.5(TSC1):c.*4522C>T rs918338551 0.00002
NM_000368.5(TSC1):c.*941A>G rs189368676 0.00002
NM_000368.5(TSC1):c.-214C>T rs886063628 0.00002
NM_000368.5(TSC1):c.-35G>A rs370122384 0.00002
NM_000368.5(TSC1):c.1020A>G (p.Glu340=) rs760233114 0.00002
NM_000368.5(TSC1):c.1030-14T>A rs180810228 0.00002
NM_000368.5(TSC1):c.111T>C (p.Arg37=) rs966292723 0.00002
NM_000368.5(TSC1):c.1224C>T (p.His408=) rs781006583 0.00002
NM_000368.5(TSC1):c.1251A>G (p.Thr417=) rs147127442 0.00002
NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg) rs878853959 0.00002
NM_000368.5(TSC1):c.126A>C (p.Val42=) rs118203335 0.00002
NM_000368.5(TSC1):c.1273A>G (p.Met425Val) rs753199284 0.00002
NM_000368.5(TSC1):c.1290A>G (p.Pro430=) rs759914505 0.00002
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val) rs1489175329 0.00002
NM_000368.5(TSC1):c.1528G>A (p.Asp510Asn) rs779206386 0.00002
NM_000368.5(TSC1):c.1584C>T (p.Gly528=) rs149439187 0.00002
NM_000368.5(TSC1):c.1636G>T (p.Asp546Tyr) rs774671298 0.00002
NM_000368.5(TSC1):c.1678G>A (p.Gly560Ser) rs746304922 0.00002
NM_000368.5(TSC1):c.167C>T (p.Pro56Leu) rs750512029 0.00002
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly) rs377185303 0.00002
NM_000368.5(TSC1):c.1738A>G (p.Ile580Val) rs1179358967 0.00002
NM_000368.5(TSC1):c.1809G>T (p.Pro603=) rs112434645 0.00002
NM_000368.5(TSC1):c.1848C>T (p.Ala616=) rs752286096 0.00002
NM_000368.5(TSC1):c.1881G>A (p.Leu627=) rs766204646 0.00002
NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile) rs779584449 0.00002
NM_000368.5(TSC1):c.2034C>T (p.His678=) rs201392975 0.00002
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys) rs202241429 0.00002
NM_000368.5(TSC1):c.2077G>C (p.Asp693His) rs397514800 0.00002
NM_000368.5(TSC1):c.210+5T>C rs753035149 0.00002
NM_000368.5(TSC1):c.2115G>A (p.Glu705=) rs142662480 0.00002
NM_000368.5(TSC1):c.2303G>A (p.Arg768His) rs1033725987 0.00002
NM_000368.5(TSC1):c.2322G>A (p.Lys774=) rs772038670 0.00002
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe) rs868755168 0.00002
NM_000368.5(TSC1):c.2424G>A (p.Ala808=) rs200651872 0.00002
NM_000368.5(TSC1):c.2503-20T>G rs539758749 0.00002
NM_000368.5(TSC1):c.251C>A (p.Ala84Asp) rs761717715 0.00002
NM_000368.5(TSC1):c.2542T>C (p.Leu848=) rs780394011 0.00002
NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter) rs747602915 0.00002
NM_000368.5(TSC1):c.270C>T (p.Leu90=) rs142325036 0.00002
NM_000368.5(TSC1):c.2776C>G (p.Gln926Glu) rs397514879 0.00002
NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly) rs760762170 0.00002
NM_000368.5(TSC1):c.2901C>T (p.Gly967=) rs774634388 0.00002
NM_000368.5(TSC1):c.2976-14C>T rs368652971 0.00002
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=) rs765753157 0.00002
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln) rs796053461 0.00002
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr) rs112066743 0.00002
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=) rs118203746 0.00002
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=) rs749995749 0.00002
NM_000368.5(TSC1):c.3253A>G (p.Lys1085Glu) rs1442514678 0.00002
NM_000368.5(TSC1):c.3266G>C (p.Gly1089Ala) rs762845573 0.00002
NM_000368.5(TSC1):c.3364G>A (p.Gly1122Ser) rs760918561 0.00002
NM_000368.5(TSC1):c.3396C>T (p.Pro1132=) rs774980129 0.00002
NM_000368.5(TSC1):c.3397C>T (p.Leu1133=) rs1244090738 0.00002
NM_000368.5(TSC1):c.340C>T (p.Pro114Ser) rs779395169 0.00002
NM_000368.5(TSC1):c.364-7C>T rs775465260 0.00002
NM_000368.5(TSC1):c.370A>G (p.Thr124Ala) rs745871522 0.00002
NM_000368.5(TSC1):c.375C>T (p.Asp125=) rs560863078 0.00002
NM_000368.5(TSC1):c.379G>A (p.Val127Ile) rs372215435 0.00002
NM_000368.5(TSC1):c.389C>T (p.Thr130Ile) rs779340088 0.00002
NM_000368.5(TSC1):c.47C>G (p.Ser16Cys) rs774900322 0.00002
NM_000368.5(TSC1):c.509-10C>T rs780670013 0.00002
NM_000368.5(TSC1):c.509-13G>A rs746269100 0.00002
NM_000368.5(TSC1):c.531C>T (p.Leu177=) rs752615412 0.00002
NM_000368.5(TSC1):c.542A>T (p.His181Leu) rs397515294 0.00002
NM_000368.5(TSC1):c.569G>A (p.Arg190His) rs118203402 0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=) rs202242304 0.00002
NM_000368.5(TSC1):c.69C>T (p.Asp23=) rs769282604 0.00002
NM_000368.5(TSC1):c.720T>G (p.His240Gln) rs779872953 0.00002
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg) rs796053452 0.00002
NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr) rs752290177 0.00002
NM_000368.5(TSC1):c.930C>T (p.Thr310=) rs759004332 0.00002
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00002
NM_000368.5(TSC1):c.*1215G>A rs1013608610 0.00001
NM_000368.5(TSC1):c.*1349G>A rs1195760994 0.00001
NM_000368.5(TSC1):c.*1970G>A rs886063603 0.00001
NM_000368.5(TSC1):c.*2104A>G rs1019153783 0.00001
NM_000368.5(TSC1):c.*2446A>G rs558966777 0.00001
NM_000368.5(TSC1):c.*249G>A rs1296777494 0.00001
NM_000368.5(TSC1):c.*250G>C rs1309725348 0.00001
NM_000368.5(TSC1):c.*2576T>C rs886063599 0.00001
NM_000368.5(TSC1):c.*2829A>G rs886063591 0.00001
NM_000368.5(TSC1):c.*2890A>G rs946784136 0.00001
NM_000368.5(TSC1):c.*3484A>G rs1335423130 0.00001
NM_000368.5(TSC1):c.*3959T>C rs1445439695 0.00001
NM_000368.5(TSC1):c.*4128G>A rs886063572 0.00001
NM_000368.5(TSC1):c.*651C>G rs369911288 0.00001
NM_000368.5(TSC1):c.1000T>A (p.Ser334Thr) rs1845955815 0.00001
NM_000368.5(TSC1):c.1002G>A (p.Ser334=) rs200820603 0.00001
NM_000368.5(TSC1):c.1016C>T (p.Thr339Ile) rs1246013552 0.00001
NM_000368.5(TSC1):c.1029+12A>G rs1333680936 0.00001
NM_000368.5(TSC1):c.1038T>C (p.Leu346=) rs753360364 0.00001
NM_000368.5(TSC1):c.1045C>G (p.Pro349Ala) rs779767990 0.00001
NM_000368.5(TSC1):c.1050T>C (p.Ser350=) rs150777389 0.00001
NM_000368.5(TSC1):c.1059T>C (p.Cys353=) rs1216537041 0.00001
NM_000368.5(TSC1):c.106+4A>G rs373075566 0.00001
NM_000368.5(TSC1):c.107-8T>C rs763234027 0.00001
NM_000368.5(TSC1):c.1078A>C (p.Thr360Pro) rs201738258 0.00001
NM_000368.5(TSC1):c.1078A>G (p.Thr360Ala) rs201738258 0.00001
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser) rs397514864 0.00001
NM_000368.5(TSC1):c.1091A>T (p.Asn364Ile) rs876658981 0.00001
NM_000368.5(TSC1):c.1096C>G (p.Pro366Ala) rs1041988929 0.00001
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu) rs763915012 0.00001
NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala) rs1412914051 0.00001
NM_000368.5(TSC1):c.109C>T (p.Arg37Cys) rs1309560054 0.00001
NM_000368.5(TSC1):c.1105C>A (p.Leu369Met) rs118203496 0.00001
NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala) rs760638759 0.00001
NM_000368.5(TSC1):c.1116T>C (p.Pro372=) rs1311647964 0.00001
NM_000368.5(TSC1):c.1130T>G (p.Phe377Cys) rs1187617751 0.00001
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512 0.00001
NM_000368.5(TSC1):c.1141+17T>C rs1335504392 0.00001
NM_000368.5(TSC1):c.1142-17C>G rs1845909117 0.00001
NM_000368.5(TSC1):c.1144G>A (p.Gly382Ser) rs367564729 0.00001
NM_000368.5(TSC1):c.115C>T (p.Pro39Ser) rs1588359851 0.00001
NM_000368.5(TSC1):c.1166G>A (p.Gly389Glu) rs752575728 0.00001
NM_000368.5(TSC1):c.118A>G (p.Met40Val) rs974227401 0.00001
NM_000368.5(TSC1):c.1190C>T (p.Pro397Leu) rs766487204 0.00001
NM_000368.5(TSC1):c.1191A>G (p.Pro397=) rs370281825 0.00001
NM_000368.5(TSC1):c.1193C>T (p.Ala398Val) rs918660416 0.00001
NM_000368.5(TSC1):c.1196C>T (p.Pro399Leu) rs761014195 0.00001
NM_000368.5(TSC1):c.1200C>G (p.Leu400=) rs767514820 0.00001
NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys) rs143502728 0.00001
NM_000368.5(TSC1):c.1219G>A (p.Val407Met) rs769331772 0.00001
NM_000368.5(TSC1):c.121C>T (p.Leu41Phe) rs118203334 0.00001
NM_000368.5(TSC1):c.1232T>A (p.Leu411His) rs140410001 0.00001
NM_000368.5(TSC1):c.1233C>T (p.Leu411=) rs1588321365 0.00001
NM_000368.5(TSC1):c.1237C>G (p.Gln413Glu) rs1588321339 0.00001
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg) rs1060503218 0.00001
NM_000368.5(TSC1):c.1244C>T (p.Thr415Ile) rs746550630 0.00001
NM_000368.5(TSC1):c.1248C>T (p.Val416=) rs777823426 0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000368.5(TSC1):c.1253C>A (p.Pro418His) rs997339959 0.00001
NM_000368.5(TSC1):c.1257C>G (p.Pro419=) rs369642207 0.00001
NM_000368.5(TSC1):c.1263+10A>G rs1260305500 0.00001
NM_000368.5(TSC1):c.1263+14C>T rs1240806849 0.00001
NM_000368.5(TSC1):c.1263+5G>A rs767745683 0.00001
NM_000368.5(TSC1):c.1263+6_1263+8dup rs751182565 0.00001
NM_000368.5(TSC1):c.1263+9C>T rs761837376 0.00001
NM_000368.5(TSC1):c.1264-10del rs753168838 0.00001
NM_000368.5(TSC1):c.1269G>C (p.Glu423Asp) rs1272450087 0.00001
NM_000368.5(TSC1):c.1277_1279del (p.Asp426_Ser427delinsAla) rs1203057835 0.00001
NM_000368.5(TSC1):c.1282G>C (p.Ala428Pro) rs1845728007 0.00001
NM_000368.5(TSC1):c.1283C>T (p.Ala428Val) rs1554816420 0.00001
NM_000368.5(TSC1):c.1305A>G (p.Gln435=) rs1334781311 0.00001
NM_000368.5(TSC1):c.130A>G (p.Thr44Ala) rs1399266964 0.00001
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val) rs199800297 0.00001
NM_000368.5(TSC1):c.1333+19T>C rs1292520108 0.00001
NM_000368.5(TSC1):c.1333+7T>G rs1588313945 0.00001
NM_000368.5(TSC1):c.133T>C (p.Leu45=) rs755226092 0.00001
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala) rs371093730 0.00001
NM_000368.5(TSC1):c.135G>A (p.Leu45=) rs149278759 0.00001
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg) rs587778722 0.00001
NM_000368.5(TSC1):c.1418T>C (p.Ile473Thr) rs185159716 0.00001
NM_000368.5(TSC1):c.1429_1431del (p.Lys477del) rs796053469 0.00001
NM_000368.5(TSC1):c.1438+10G>A rs1845690652 0.00001
NM_000368.5(TSC1):c.1438+13G>A rs1478759489 0.00001
NM_000368.5(TSC1):c.1438+19C>A rs778924863 0.00001
NM_000368.5(TSC1):c.1438+20T>C rs1406922569 0.00001
NM_000368.5(TSC1):c.1439-10T>A rs1060504852 0.00001
NM_000368.5(TSC1):c.1539A>G (p.Pro513=) rs755055358 0.00001
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp) rs118203342 0.00001
NM_000368.5(TSC1):c.1550G>A (p.Arg517Gln) rs371908551 0.00001
NM_000368.5(TSC1):c.1561T>C (p.Ser521Pro) rs1194627656 0.00001
NM_000368.5(TSC1):c.1562C>T (p.Ser521Leu) rs759379027 0.00001
NM_000368.5(TSC1):c.1564G>C (p.Ala522Pro) rs1461138345 0.00001
NM_000368.5(TSC1):c.1571C>T (p.Ser524Phe) rs1276296733 0.00001
NM_000368.5(TSC1):c.1574G>C (p.Ser525Thr) rs750784794 0.00001
NM_000368.5(TSC1):c.1580A>G (p.Gln527Arg) rs767708806 0.00001
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr) rs368481360 0.00001
NM_000368.5(TSC1):c.1590C>T (p.Ser530=) rs762424091 0.00001
NM_000368.5(TSC1):c.1591G>A (p.Val531Met) rs377279170 0.00001
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr) rs765149885 0.00001
NM_000368.5(TSC1):c.1596C>T (p.Asn532=) rs759461471 0.00001
NM_000368.5(TSC1):c.1597C>A (p.Pro533Thr) rs1331420425 0.00001
NM_000368.5(TSC1):c.1602G>T (p.Glu534Asp) rs1419023919 0.00001
NM_000368.5(TSC1):c.1626G>A (p.Lys542=) rs756935981 0.00001
NM_000368.5(TSC1):c.1627C>T (p.Leu543Phe) rs1845641287 0.00001
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu) rs770570830 0.00001
NM_000368.5(TSC1):c.1643C>T (p.Pro548Leu) rs1588310178 0.00001
NM_000368.5(TSC1):c.166C>T (p.Pro56Ser) rs1330089369 0.00001
NM_000368.5(TSC1):c.1674C>T (p.Pro558=) rs878853962 0.00001
NM_000368.5(TSC1):c.168G>A (p.Pro56=) rs781483110 0.00001
NM_000368.5(TSC1):c.1716C>T (p.Cys572=) rs752202276 0.00001
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) rs886063623 0.00001
NM_000368.5(TSC1):c.1754C>T (p.Pro585Leu) rs1845627444 0.00001
NM_000368.5(TSC1):c.1765C>T (p.Pro589Ser) rs1299279813 0.00001
NM_000368.5(TSC1):c.1772C>T (p.Pro591Leu) rs768985094 0.00001
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met) rs775869914 0.00001
NM_000368.5(TSC1):c.1776G>A (p.Thr592=) rs118203580 0.00001
NM_000368.5(TSC1):c.1779A>G (p.Arg593=) rs964191879 0.00001
NM_000368.5(TSC1):c.177C>T (p.His59=) rs767647768 0.00001
NM_000368.5(TSC1):c.1780G>A (p.Val594Met) rs1845623814 0.00001
NM_000368.5(TSC1):c.1794C>T (p.Ser598=) rs766438395 0.00001
NM_000368.5(TSC1):c.1795G>A (p.Gly599Arg) rs761959210 0.00001
NM_000368.5(TSC1):c.1800G>C (p.Gln600His) rs1254353359 0.00001
NM_000368.5(TSC1):c.1809G>A (p.Pro603=) rs112434645 0.00001
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817 0.00001
NM_000368.5(TSC1):c.1816C>T (p.His606Tyr) rs1343881428 0.00001
NM_000368.5(TSC1):c.1818T>A (p.His606Gln) rs758769193 0.00001
NM_000368.5(TSC1):c.181C>T (p.Leu61=) rs752047592 0.00001
NM_000368.5(TSC1):c.1849C>T (p.His617Tyr) rs397514854 0.00001
NM_000368.5(TSC1):c.1869G>A (p.Lys623=) rs778556382 0.00001
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile) rs754401816 0.00001
NM_000368.5(TSC1):c.1882T>C (p.Leu628=) rs375534013 0.00001
NM_000368.5(TSC1):c.1890A>G (p.Lys630=) rs1370477883 0.00001
NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala) rs1485955306 0.00001
NM_000368.5(TSC1):c.1943T>C (p.Val648Ala) rs771341361 0.00001
NM_000368.5(TSC1):c.1954C>T (p.Leu652=) rs747452647 0.00001
NM_000368.5(TSC1):c.195A>G (p.Gln65=) rs764523181 0.00001
NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr) rs914628341 0.00001
NM_000368.5(TSC1):c.1997+16A>G rs755582593 0.00001
NM_000368.5(TSC1):c.1997+4A>G rs1404828446 0.00001
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg) rs1419720341 0.00001
NM_000368.5(TSC1):c.1998-4C>T rs1179883422 0.00001
NM_000368.5(TSC1):c.2003C>T (p.Pro668Leu) rs772603060 0.00001
NM_000368.5(TSC1):c.2018C>A (p.Ser673Tyr) rs774835995 0.00001
NM_000368.5(TSC1):c.2023G>C (p.Asp675His) rs768189353 0.00001
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg) rs748901883 0.00001
NM_000368.5(TSC1):c.2032C>T (p.His678Tyr) rs755647717 0.00001
NM_000368.5(TSC1):c.2033A>T (p.His678Leu) rs745413532 0.00001
NM_000368.5(TSC1):c.2038G>A (p.Gly680Arg) rs757322533 0.00001
NM_000368.5(TSC1):c.2041+16T>G rs754045538 0.00001
NM_000368.5(TSC1):c.2044T>C (p.Ser682Pro) rs1588304748 0.00001
NM_000368.5(TSC1):c.2048C>G (p.Pro683Arg) rs1413960643 0.00001
NM_000368.5(TSC1):c.2064C>T (p.Ile688=) rs878853963 0.00001
NM_000368.5(TSC1):c.2066G>A (p.Arg689His) rs200827913 0.00001
NM_000368.5(TSC1):c.2085G>A (p.Leu695=) rs767518902 0.00001
NM_000368.5(TSC1):c.2092C>T (p.Leu698=) rs551954460 0.00001
NM_000368.5(TSC1):c.210+13A>G rs759235039 0.00001
NM_000368.5(TSC1):c.210+17C>T rs1432418711 0.00001
NM_000368.5(TSC1):c.210+9T>C rs1173791389 0.00001
NM_000368.5(TSC1):c.2109C>T (p.Leu703=) rs1440846632 0.00001
NM_000368.5(TSC1):c.211-11T>C rs1258774658 0.00001
NM_000368.5(TSC1):c.211-15C>G rs1459098612 0.00001
NM_000368.5(TSC1):c.211-8A>G rs753082880 0.00001
NM_000368.5(TSC1):c.213C>A (p.His71Gln) rs765578482 0.00001
NM_000368.5(TSC1):c.2144G>A (p.Arg715Gln) rs986350787 0.00001
NM_000368.5(TSC1):c.2145G>C (p.Arg715=) rs1379334013 0.00001
NM_000368.5(TSC1):c.2172C>A (p.Ile724=) rs1845495899 0.00001
NM_000368.5(TSC1):c.2196T>C (p.His732=) rs776441369 0.00001
NM_000368.5(TSC1):c.2208+7A>G rs777732621 0.00001
NM_000368.5(TSC1):c.2209-14C>T rs1554815062 0.00001
NM_000368.5(TSC1):c.2226A>G (p.Leu742=) rs397514878 0.00001
NM_000368.5(TSC1):c.2268A>G (p.Lys756=) rs760004541 0.00001
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His) rs776386313 0.00001
NM_000368.5(TSC1):c.2298G>C (p.Glu766Asp) rs1403227945 0.00001
NM_000368.5(TSC1):c.22G>A (p.Gly8Arg) rs773784532 0.00001
NM_000368.5(TSC1):c.2307C>T (p.Asp769=) rs876658671 0.00001
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr) rs760208449 0.00001
NM_000368.5(TSC1):c.2367C>T (p.Phe789=) rs1588301207 0.00001
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys) rs749111647 0.00001
NM_000368.5(TSC1):c.2391+17C>T rs572485175 0.00001
NM_000368.5(TSC1):c.2392-13T>C rs779536336 0.00001
NM_000368.5(TSC1):c.2392-14G>A rs1057524717 0.00001
NM_000368.5(TSC1):c.2392-16A>G rs758374143 0.00001
NM_000368.5(TSC1):c.2392-20G>T rs1181323344 0.00001
NM_000368.5(TSC1):c.2394G>A (p.Thr798=) rs1060504860 0.00001
NM_000368.5(TSC1):c.23G>C (p.Gly8Ala) rs1269896419 0.00001
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val) rs751128287 0.00001
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg) rs118203699 0.00001
NM_000368.5(TSC1):c.2502+3A>G rs1349115830 0.00001
NM_000368.5(TSC1):c.2503-13G>A rs1197465592 0.00001
NM_000368.5(TSC1):c.2503-20T>C rs539758749 0.00001
NM_000368.5(TSC1):c.2503-4T>G rs772414581 0.00001
NM_000368.5(TSC1):c.2519C>T (p.Ser840Leu) rs1564475110 0.00001
NM_000368.5(TSC1):c.2520G>A (p.Ser840=) rs547498792 0.00001
NM_000368.5(TSC1):c.2527C>G (p.Gln843Glu) rs749414404 0.00001
NM_000368.5(TSC1):c.2556G>C (p.Leu852=) rs770381040 0.00001
NM_000368.5(TSC1):c.2577C>T (p.Asn859=) rs781553258 0.00001
NM_000368.5(TSC1):c.2585A>G (p.Tyr862Cys) rs1060503221 0.00001
NM_000368.5(TSC1):c.2604C>T (p.Asn868=) rs147163264 0.00001
NM_000368.5(TSC1):c.2614G>C (p.Asp872His) rs746607455 0.00001
NM_000368.5(TSC1):c.2625+14C>T rs757876250 0.00001
NM_000368.5(TSC1):c.2625+15G>A rs565234395 0.00001
NM_000368.5(TSC1):c.2625+17G>A rs1207319302 0.00001
NM_000368.5(TSC1):c.2626-5T>C rs1444272064 0.00001
NM_000368.5(TSC1):c.2636T>C (p.Met879Thr) rs754457018 0.00001
NM_000368.5(TSC1):c.2651A>G (p.Tyr884Cys) rs1449821288 0.00001
NM_000368.5(TSC1):c.2658A>G (p.Lys886=) rs368212910 0.00001
NM_000368.5(TSC1):c.2690A>T (p.Gln897Leu) rs772324460 0.00001
NM_000368.5(TSC1):c.2722C>T (p.Arg908Trp) rs748845915 0.00001
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln) rs780115763 0.00001
NM_000368.5(TSC1):c.2726T>C (p.Ile909Thr) rs1374339026 0.00001
NM_000368.5(TSC1):c.272C>G (p.Ser91Trp) rs118203361 0.00001
NM_000368.5(TSC1):c.2745C>T (p.His915=) rs1392904165 0.00001
NM_000368.5(TSC1):c.2766T>C (p.Leu922=) rs546119844 0.00001
NM_000368.5(TSC1):c.2766T>G (p.Leu922=) rs546119844 0.00001
NM_000368.5(TSC1):c.2781G>A (p.Lys927=) rs118203733 0.00001
NM_000368.5(TSC1):c.2796T>C (p.Asp932=) rs766871150 0.00001
NM_000368.5(TSC1):c.2803C>T (p.Leu935Phe) rs1172586020 0.00001
NM_000368.5(TSC1):c.2814-9A>G rs878853965 0.00001
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr) rs751362258 0.00001
NM_000368.5(TSC1):c.2867A>G (p.Gln956Arg) rs1212768461 0.00001
NM_000368.5(TSC1):c.2878T>C (p.Leu960=) rs766383986 0.00001
NM_000368.5(TSC1):c.287T>C (p.Val96Ala) rs370243092 0.00001
NM_000368.5(TSC1):c.2880G>A (p.Leu960=) rs1845126730 0.00001
NM_000368.5(TSC1):c.2885T>G (p.Ile962Ser) rs1438535722 0.00001
NM_000368.5(TSC1):c.2893T>A (p.Leu965Ile) rs1060503217 0.00001
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His) rs767946427 0.00001
NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys) rs762213436 0.00001
NM_000368.5(TSC1):c.289A>G (p.Ile97Val) rs138541569 0.00001
NM_000368.5(TSC1):c.28C>T (p.Leu10Phe) rs1399717425 0.00001
NM_000368.5(TSC1):c.2910G>A (p.Glu970=) rs762627301 0.00001
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val) rs397514859 0.00001
NM_000368.5(TSC1):c.2933T>G (p.Leu978Arg) rs770834438 0.00001
NM_000368.5(TSC1):c.2940A>G (p.Glu980=) rs557674294 0.00001
NM_000368.5(TSC1):c.2964A>G (p.Ala988=) rs1057520482 0.00001
NM_000368.5(TSC1):c.2975+6A>T rs1060503220 0.00001
NM_000368.5(TSC1):c.2976-16C>T rs759106092 0.00001
NM_000368.5(TSC1):c.2976-18T>C rs397514866 0.00001
NM_000368.5(TSC1):c.2976-2A>G rs1588288463 0.00001
NM_000368.5(TSC1):c.2982C>T (p.Asp994=) rs199919348 0.00001
NM_000368.5(TSC1):c.2994C>T (p.Asp998=) rs923543734 0.00001
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg) rs780224196 0.00001
NM_000368.5(TSC1):c.3010A>G (p.Met1004Val) rs371879917 0.00001
NM_000368.5(TSC1):c.3011T>C (p.Met1004Thr) rs757370776 0.00001
NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg) rs1242948205 0.00001
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr) rs764738792 0.00001
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser) rs1263094349 0.00001
NM_000368.5(TSC1):c.3032C>A (p.Ala1011Glu) rs796053449 0.00001
NM_000368.5(TSC1):c.3046G>A (p.Gly1016Ser) rs1020905743 0.00001
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp) rs1313165721 0.00001
NM_000368.5(TSC1):c.305C>G (p.Ser102Cys) rs1307630727 0.00001
NM_000368.5(TSC1):c.3062C>T (p.Pro1021Leu) rs1845082733 0.00001
NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp) rs375394001 0.00001
NM_000368.5(TSC1):c.3080G>T (p.Arg1027Leu) rs796053461 0.00001
NM_000368.5(TSC1):c.3092G>A (p.Gly1031Glu) rs1845079425 0.00001
NM_000368.5(TSC1):c.3101G>A (p.Gly1034Asp) rs1034398735 0.00001
NM_000368.5(TSC1):c.3115A>G (p.Ser1039Gly) rs1490199228 0.00001
NM_000368.5(TSC1):c.3120C>T (p.Ser1040=) rs1289954163 0.00001
NM_000368.5(TSC1):c.312G>T (p.Lys104Asn) rs1554820281 0.00001
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462 0.00001
NM_000368.5(TSC1):c.3135T>C (p.Leu1045=) rs1332702219 0.00001
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile) rs587778726 0.00001
NM_000368.5(TSC1):c.3151C>T (p.Pro1051Ser) rs1210523479 0.00001
NM_000368.5(TSC1):c.3169G>A (p.Gly1057Ser) rs587778727 0.00001
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu) rs753263747 0.00001
NM_000368.5(TSC1):c.3181A>G (p.Ser1061Gly) rs1203493016 0.00001
NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln) rs755396992 0.00001
NM_000368.5(TSC1):c.3194C>T (p.Thr1065Met) rs753388676 0.00001
NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg) rs1167362899 0.00001
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=) rs878853966 0.00001
NM_000368.5(TSC1):c.3228C>T (p.Thr1076=) rs140622357 0.00001
NM_000368.5(TSC1):c.3248G>A (p.Ser1083Asn) rs1845055163 0.00001
NM_000368.5(TSC1):c.3268A>G (p.Met1090Val) rs776694051 0.00001
NM_000368.5(TSC1):c.3274G>A (p.Ala1092Thr) rs747053008 0.00001
NM_000368.5(TSC1):c.3289C>T (p.Arg1097Cys) rs779599439 0.00001
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His) rs118203750 0.00001
NM_000368.5(TSC1):c.3300C>T (p.Ser1100=) rs754282309 0.00001
NM_000368.5(TSC1):c.3305G>C (p.Ser1102Thr) rs1263464680 0.00001
NM_000368.5(TSC1):c.3309G>A (p.Gln1103=) rs1474184918 0.00001
NM_000368.5(TSC1):c.331C>T (p.Pro111Ser) rs748669519 0.00001
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=) rs118203752 0.00001
NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser) rs118203753 0.00001
NM_000368.5(TSC1):c.3347G>A (p.Ser1116Asn) rs764140399 0.00001
NM_000368.5(TSC1):c.3350T>C (p.Leu1117Pro) rs762641110 0.00001
NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile) rs775420987 0.00001
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=) rs1157060310 0.00001
NM_000368.5(TSC1):c.3381G>A (p.Val1127=) rs773586317 0.00001
NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val) rs772233665 0.00001
NM_000368.5(TSC1):c.3390G>C (p.Lys1130Asn) rs1845035929 0.00001
NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser) rs1249897804 0.00001
NM_000368.5(TSC1):c.3405A>G (p.Leu1135=) rs568004490 0.00001
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082 0.00001
NM_000368.5(TSC1):c.3414T>C (p.Pro1138=) rs745475737 0.00001
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro) rs764018144 0.00001
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=) rs763931959 0.00001
NM_000368.5(TSC1):c.3424C>T (p.Pro1142Ser) rs1060503227 0.00001
NM_000368.5(TSC1):c.3425C>T (p.Pro1142Leu) rs1207133391 0.00001
NM_000368.5(TSC1):c.3426C>A (p.Pro1142=) rs758286878 0.00001
NM_000368.5(TSC1):c.3433C>G (p.Pro1145Ala) rs773541137 0.00001
NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu) rs767904247 0.00001
NM_000368.5(TSC1):c.3436G>C (p.Asp1146His) rs397514806 0.00001
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806 0.00001
NM_000368.5(TSC1):c.3475A>T (p.Thr1159Ser) rs1216169846 0.00001
NM_000368.5(TSC1):c.3478C>T (p.His1160Tyr) rs1470270925 0.00001
NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp) rs749746550 0.00001
NM_000368.5(TSC1):c.364A>G (p.Met122Val) rs1846685026 0.00001
NM_000368.5(TSC1):c.371C>G (p.Thr124Ser) rs747251435 0.00001
NM_000368.5(TSC1):c.376G>A (p.Val126Ile) rs397514843 0.00001
NM_000368.5(TSC1):c.378C>T (p.Val126=) rs373173550 0.00001
NM_000368.5(TSC1):c.380T>C (p.Val127Ala) rs1444696723 0.00001
NM_000368.5(TSC1):c.381T>C (p.Val127=) rs1846682219 0.00001
NM_000368.5(TSC1):c.38T>C (p.Met13Thr) rs1041071543 0.00001
NM_000368.5(TSC1):c.397G>A (p.Val133Ile) rs118203381 0.00001
NM_000368.5(TSC1):c.413C>A (p.Thr138Asn) rs1163879822 0.00001
NM_000368.5(TSC1):c.418C>G (p.Leu140Val) rs1554819915 0.00001
NM_000368.5(TSC1):c.424A>G (p.Met142Val) rs1846677025 0.00001
NM_000368.5(TSC1):c.458A>G (p.Asp153Gly) rs1846674570 0.00001
NM_000368.5(TSC1):c.45C>T (p.Asp15=) rs1457262106 0.00001
NM_000368.5(TSC1):c.508+14C>T rs144270749 0.00001
NM_000368.5(TSC1):c.508+17A>G rs763034091 0.00001
NM_000368.5(TSC1):c.508+18T>C rs1057522667 0.00001
NM_000368.5(TSC1):c.509-16C>T rs1316888340 0.00001
NM_000368.5(TSC1):c.50C>G (p.Pro17Arg) rs1189239082 0.00001
NM_000368.5(TSC1):c.514G>A (p.Val172Met) rs952813051 0.00001
NM_000368.5(TSC1):c.518C>T (p.Ala173Val) rs777484049 0.00001
NM_000368.5(TSC1):c.51C>G (p.Pro17=) rs768175095 0.00001
NM_000368.5(TSC1):c.524T>C (p.Val175Ala) rs1415895533 0.00001
NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys) rs1060503209 0.00001
NM_000368.5(TSC1):c.540C>T (p.Leu180=) rs201562103 0.00001
NM_000368.5(TSC1):c.546C>T (p.Ala182=) rs1245007527 0.00001
NM_000368.5(TSC1):c.555C>T (p.Tyr185=) rs118203398 0.00001
NM_000368.5(TSC1):c.593A>G (p.Asn198Ser) rs577983115 0.00001
NM_000368.5(TSC1):c.598G>A (p.Val200Ile) rs118203410 0.00001
NM_000368.5(TSC1):c.61G>T (p.Val21Leu) rs1392596033 0.00001
NM_000368.5(TSC1):c.622A>C (p.Ser208Arg) rs778671811 0.00001
NM_000368.5(TSC1):c.641A>G (p.Glu214Gly) rs1483354391 0.00001
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) rs749030456 0.00001
NM_000368.5(TSC1):c.651A>G (p.Glu217=) rs766250769 0.00001
NM_000368.5(TSC1):c.657G>C (p.Val219=) rs755910789 0.00001
NM_000368.5(TSC1):c.663+17T>G rs1564497799 0.00001
NM_000368.5(TSC1):c.663+8G>A rs1288691986 0.00001
NM_000368.5(TSC1):c.670A>T (p.Met224Leu) rs535397245 0.00001
NM_000368.5(TSC1):c.702G>A (p.Val234=) rs1216129023 0.00001
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn) rs984306144 0.00001
NM_000368.5(TSC1):c.72C>T (p.Asp24=) rs376527838 0.00001
NM_000368.5(TSC1):c.730C>A (p.Pro244Thr) rs1846543788 0.00001
NM_000368.5(TSC1):c.737+6G>A rs567909130 0.00001
NM_000368.5(TSC1):c.738-10C>A rs768158324 0.00001
NM_000368.5(TSC1):c.771C>T (p.Ile257=) rs1060504854 0.00001
NM_000368.5(TSC1):c.772G>A (p.Glu258Lys) rs118203450 0.00001
NM_000368.5(TSC1):c.774G>A (p.Glu258=) rs1554817678 0.00001
NM_000368.5(TSC1):c.782A>G (p.Lys261Arg) rs371225009 0.00001
NM_000368.5(TSC1):c.804A>G (p.Glu268=) rs753895570 0.00001
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu) rs878853968 0.00001
NM_000368.5(TSC1):c.818A>G (p.Asp273Gly) rs768057796 0.00001
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu) rs148756522 0.00001
NM_000368.5(TSC1):c.826T>C (p.Ser276Pro) rs774009225 0.00001
NM_000368.5(TSC1):c.830T>C (p.Val277Ala) rs200749357 0.00001
NM_000368.5(TSC1):c.859C>T (p.His287Tyr) rs1278022127 0.00001
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys) rs770653972 0.00001
NM_000368.5(TSC1):c.863G>A (p.Arg288His) rs1424366444 0.00001
NM_000368.5(TSC1):c.871G>A (p.Asp291Asn) rs755195460 0.00001
NM_000368.5(TSC1):c.873T>C (p.Asp291=) rs753928162 0.00001
NM_000368.5(TSC1):c.880A>G (p.Thr294Ala) rs1588326742 0.00001
NM_000368.5(TSC1):c.884G>C (p.Ser295Thr) rs1415705359 0.00001
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile) rs370916731 0.00001
NM_000368.5(TSC1):c.903G>C (p.Gln301His) rs762200890 0.00001
NM_000368.5(TSC1):c.913+5A>G rs1468819254 0.00001
NM_000368.5(TSC1):c.943T>A (p.Ser315Thr) rs185815387 0.00001
NM_000368.5(TSC1):c.944C>G (p.Ser315Cys) rs1332978347 0.00001
NM_000368.5(TSC1):c.960A>G (p.Leu320=) rs770183315 0.00001
NC_000009.11:g.(?_135771184)_(135781738_?)del
NC_000009.11:g.(?_135771612)_(135778184_?)dup
NC_000009.11:g.(?_135771622)_(135773017_?)del
NC_000009.11:g.(?_135771622)_(135801136_?)dup
NC_000009.11:g.(?_135771622)_(135804259_?)dup
NC_000009.11:g.(?_135771622)_(135810482_?)dup
NC_000009.11:g.(?_135771622)_(135820530_?)del
NC_000009.11:g.(?_135775735)_(135820530_?)del
NC_000009.11:g.(?_135776102)_(135787844_?)dup
NC_000009.11:g.(?_135777972)_(135782777_?)del
NC_000009.11:g.(?_135782098)_(135796843_?)del
NC_000009.11:g.(?_135796740)_(135820530_?)dup
NC_000009.11:g.(?_135797196)_(135820530_?)dup
NC_000009.11:g.(?_135798715)_(135798899_?)del
NC_000009.11:g.(?_135798715)_(135804279_?)dup
NC_000009.11:g.(?_135802568)_(135804339_?)del
NC_000009.11:g.(?_135804148)_(135804265_?)dup
NC_000009.11:g.(?_135810420)_(135820530_?)dup
NC_000009.11:g.(?_135819930)_(135820530_?)dup
NC_000009.11:g.(?_135820391)_(135821434_?)del
NC_000009.11:g.135773000_135773001insCA rs1554813651
NC_000009.12:g.(?_132896215)_(132900857_?)del
NC_000009.12:g.(?_132896215)_(132904474_?)del
NC_000009.12:g.(?_132896215)_(132928892_?)del
NC_000009.12:g.(?_132896229)_(132928878_?)del
NC_000009.12:g.(?_132896235)_(132945143_?)dup
NC_000009.12:g.(?_132897164)_(132897630_?)del
NC_000009.12:g.(?_132900348)_(132921993_?)del
NC_000009.12:g.(?_132910551)_(132912477_?)del
NC_000009.12:g.(?_132910551)_(132928892_?)del
NC_000009.12:g.(?_132921343)_(132921993_?)del
NC_000009.12:g.(?_132927181)_(132927324_?)del
NC_000009.12:g.(?_132944543)_(132945143_?)del
NC_000009.12:g.132944862_132944882dup
NM_000368.4(TSC1):c.1030delG rs118203486
NM_000368.4(TSC1):c.2006_2007insTTTAGGTTGCCTTT
NM_000368.5(TSC1):c.*1036C>G rs1844969383
NM_000368.5(TSC1):c.*1050T>C rs530042727
NM_000368.5(TSC1):c.*106A>G rs886063620
NM_000368.5(TSC1):c.*1089G>A rs886063609
NM_000368.5(TSC1):c.*1239C>T rs1350222885
NM_000368.5(TSC1):c.*1355C>A rs749683153
NM_000368.5(TSC1):c.*1507G>A rs739441
NM_000368.5(TSC1):c.*1839G>A rs1170523556
NM_000368.5(TSC1):c.*198T>C rs7037703
NM_000368.5(TSC1):c.*2558A>C rs115516164
NM_000368.5(TSC1):c.*289T>A rs115091888
NM_000368.5(TSC1):c.*2924T>C rs1844864883
NM_000368.5(TSC1):c.*295C>A rs113549339
NM_000368.5(TSC1):c.*295C>G rs113549339
NM_000368.5(TSC1):c.*298A>G rs886063619
NM_000368.5(TSC1):c.*3063A>T rs886063586
NM_000368.5(TSC1):c.*3092T>C rs1844856793
NM_000368.5(TSC1):c.*3170G>A rs367605870
NM_000368.5(TSC1):c.*3238T>C rs886063585
NM_000368.5(TSC1):c.*350G>A rs1845006725
NM_000368.5(TSC1):c.*3648C>T rs113313202
NM_000368.5(TSC1):c.*3685G>A rs1844826893
NM_000368.5(TSC1):c.*3836G>A rs572231078
NM_000368.5(TSC1):c.*4105C>T rs1588276922
NM_000368.5(TSC1):c.*4119T>C rs1844802090
NM_000368.5(TSC1):c.*4356C>T rs886063566
NM_000368.5(TSC1):c.*4763T>C rs79470094
NM_000368.5(TSC1):c.*4826A>C rs886063563
NM_000368.5(TSC1):c.*936T>C rs1170508811
NM_000368.5(TSC1):c.-144+134G>T rs375418118
NM_000368.5(TSC1):c.-166A>G rs886063626
NM_000368.5(TSC1):c.1001C>A (p.Ser334Ter) rs118203481
NM_000368.5(TSC1):c.1001C>G (p.Ser334Trp) rs118203481
NM_000368.5(TSC1):c.1002G>C (p.Ser334=) rs200820603
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile) rs1845955010
NM_000368.5(TSC1):c.1005A>G (p.Thr335=) rs753091213
NM_000368.5(TSC1):c.1005dup (p.Arg336fs) rs2131975092
NM_000368.5(TSC1):c.1006C>A (p.Arg336=) rs118203483
NM_000368.5(TSC1):c.1006del (p.Arg336fs)
NM_000368.5(TSC1):c.1008G>A (p.Arg336=) rs2131974677
NM_000368.5(TSC1):c.1008G>T (p.Arg336=) rs2131974677
NM_000368.5(TSC1):c.1009C>T (p.Leu337=) rs1845954330
NM_000368.5(TSC1):c.1012A>G (p.Ile338Val) rs2131974315
NM_000368.5(TSC1):c.1013_1019del (p.Ile338fs) rs1554817344
NM_000368.5(TSC1):c.1015A>T (p.Thr339Ser) rs570809282
NM_000368.5(TSC1):c.1015dup (p.Thr339fs)
NM_000368.5(TSC1):c.1017T>C (p.Thr339=)
NM_000368.5(TSC1):c.101A>G (p.Asn34Ser) rs980870206
NM_000368.5(TSC1):c.101A>T (p.Asn34Ile)
NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu) rs1588324106
NM_000368.5(TSC1):c.1023A>G (p.Pro341=) rs2131973361
NM_000368.5(TSC1):c.1024C>T (p.Pro342Ser)
NM_000368.5(TSC1):c.1025C>T (p.Pro342Leu) rs1060503197
NM_000368.5(TSC1):c.1026A>C (p.Pro342=) rs1588324071
NM_000368.5(TSC1):c.1026A>G (p.Pro342=) rs1588324071
NM_000368.5(TSC1):c.1027C>T (p.Gln343Ter) rs2131972870
NM_000368.5(TSC1):c.1028A>T (p.Gln343Leu)
NM_000368.5(TSC1):c.1029+10C>T rs1222482776
NM_000368.5(TSC1):c.1029+14T>C
NM_000368.5(TSC1):c.1029+14T>G
NM_000368.5(TSC1):c.1029+15A>G
NM_000368.5(TSC1):c.1029+16G>A
NM_000368.5(TSC1):c.1029+17T>C rs2131972072
NM_000368.5(TSC1):c.1029+19T>C rs2131971991
NM_000368.5(TSC1):c.1029+1G>A rs118203485
NM_000368.5(TSC1):c.1029+1G>C rs118203485
NM_000368.5(TSC1):c.1029+3A>G rs1554817334
NM_000368.5(TSC1):c.1029+4T>C rs772962741
NM_000368.5(TSC1):c.1029+5G>A rs1845952054
NM_000368.5(TSC1):c.1029+5G>T
NM_000368.5(TSC1):c.1029+6G>T rs1845951912
NM_000368.5(TSC1):c.1029+8G>A rs1036865129
NM_000368.5(TSC1):c.1029A>G (p.Gln343=)
NM_000368.5(TSC1):c.1030-12T>C
NM_000368.5(TSC1):c.1030-14T>C
NM_000368.5(TSC1):c.1030-17C>A rs1432784303
NM_000368.5(TSC1):c.1030-18A>G
NM_000368.5(TSC1):c.1030-19T>C
NM_000368.5(TSC1):c.1030-20G>A
NM_000368.5(TSC1):c.1030-20G>T rs2131966081
NM_000368.5(TSC1):c.1030-2A>G rs2131965369
NM_000368.5(TSC1):c.1030-3C>G rs118203488
NM_000368.5(TSC1):c.1030-3C>T rs118203488
NM_000368.5(TSC1):c.1030-4C>T
NM_000368.5(TSC1):c.1030-5C>G rs1588323218
NM_000368.5(TSC1):c.1030-5C>T rs1588323218
NM_000368.5(TSC1):c.1030-6T>A rs1418175406
NM_000368.5(TSC1):c.1030-7T>C
NM_000368.5(TSC1):c.1030-8C>T rs2131965605
NM_000368.5(TSC1):c.1030-9A>G rs118203487
NM_000368.5(TSC1):c.1030G>C (p.Ala344Pro) rs1845934367
NM_000368.5(TSC1):c.1030G>T (p.Ala344Ser) rs1845934367
NM_000368.5(TSC1):c.1031C>G (p.Ala344Gly) rs2131965142
NM_000368.5(TSC1):c.1032T>A (p.Ala344=)
NM_000368.5(TSC1):c.1032T>C (p.Ala344=) rs2131965075
NM_000368.5(TSC1):c.1034C>T (p.Thr345Ile) rs1845934094
NM_000368.5(TSC1):c.1039T>A (p.Trp347Arg) rs1175861603
NM_000368.5(TSC1):c.1039T>C (p.Trp347Arg) rs1175861603
NM_000368.5(TSC1):c.1039T>G (p.Trp347Gly) rs1175861603
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter) rs118203491
NM_000368.5(TSC1):c.1041G>C (p.Trp347Cys) rs118203491
NM_000368.5(TSC1):c.1043G>T (p.Ser348Ile)
NM_000368.5(TSC1):c.1044C>A (p.Ser348Arg)
NM_000368.5(TSC1):c.1045C>T (p.Pro349Ser) rs779767990
NM_000368.5(TSC1):c.1046C>A (p.Pro349Gln) rs1554817268
NM_000368.5(TSC1):c.1047del (p.Ser350fs) rs2131963896
NM_000368.5(TSC1):c.1052T>C (p.Met351Thr)
NM_000368.5(TSC1):c.1054G>A (p.Val352Ile) rs796053447
NM_000368.5(TSC1):c.1054G>C (p.Val352Leu)
NM_000368.5(TSC1):c.1057dup (p.Cys353fs) rs1845932297
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr) rs876660024
NM_000368.5(TSC1):c.1058G>C (p.Cys353Ser) rs876660024
NM_000368.5(TSC1):c.105T>C (p.Ser35=) rs1588363213
NM_000368.5(TSC1):c.106+10A>G rs2132293220
NM_000368.5(TSC1):c.106+10del
NM_000368.5(TSC1):c.106+12A>G
NM_000368.5(TSC1):c.106+12A>T
NM_000368.5(TSC1):c.106+13A>C
NM_000368.5(TSC1):c.106+13_106+15del
NM_000368.5(TSC1):c.106+16T>C
NM_000368.5(TSC1):c.106+16T>G
NM_000368.5(TSC1):c.106+17C>A
NM_000368.5(TSC1):c.106+18C>A
NM_000368.5(TSC1):c.106+2T>C rs1554820976
NM_000368.5(TSC1):c.106+3T>C rs1847030488
NM_000368.5(TSC1):c.106+5G>A rs1554820973
NM_000368.5(TSC1):c.106+6C>T rs746774454
NM_000368.5(TSC1):c.106+9A>C rs1554820969
NM_000368.5(TSC1):c.106+9A>G rs1554820969
NM_000368.5(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.5(TSC1):c.1065G>A (p.Met355Ile) rs878853958
NM_000368.5(TSC1):c.1065G>T (p.Met355Ile)
NM_000368.5(TSC1):c.1066A>G (p.Thr356Ala) rs2131962146
NM_000368.5(TSC1):c.1067C>A (p.Thr356Asn) rs1845931432
NM_000368.5(TSC1):c.106G>C (p.Asp36His) rs1847030850
NM_000368.5(TSC1):c.107-12T>G
NM_000368.5(TSC1):c.107-13T>C
NM_000368.5(TSC1):c.107-14T>G
NM_000368.5(TSC1):c.107-16C>T
NM_000368.5(TSC1):c.107-19T>C rs1284557941
NM_000368.5(TSC1):c.107-1G>A rs1064793494
NM_000368.5(TSC1):c.107-20T>A rs2132272238
NM_000368.5(TSC1):c.107-20T>C
NM_000368.5(TSC1):c.107-4T>A
NM_000368.5(TSC1):c.107-6A>G
NM_000368.5(TSC1):c.107-7G>A rs775150962
NM_000368.5(TSC1):c.107-7_107-3dup rs1588359972
NM_000368.5(TSC1):c.1072C>T (p.Pro358Ser)
NM_000368.5(TSC1):c.1073C>T (p.Pro358Leu) rs2131961651
NM_000368.5(TSC1):c.1073del (p.Pro358fs) rs1554817259
NM_000368.5(TSC1):c.1078A>T (p.Thr360Ser) rs201738258
NM_000368.5(TSC1):c.1079C>G (p.Thr360Ser) rs118203493
NM_000368.5(TSC1):c.107A>C (p.Asp36Ala)
NM_000368.5(TSC1):c.107A>G (p.Asp36Gly) rs148468036
NM_000368.5(TSC1):c.107A>T (p.Asp36Val) rs148468036
NM_000368.5(TSC1):c.1082C>G (p.Ser361Cys)
NM_000368.5(TSC1):c.1084_1086del (p.Pro362del) rs1554817252
NM_000368.5(TSC1):c.1085C>T (p.Pro362Leu) rs2131960830
NM_000368.5(TSC1):c.1088G>A (p.Gly363Glu) rs2131960613
NM_000368.5(TSC1):c.1089A>G (p.Gly363=) rs2131960560
NM_000368.5(TSC1):c.1094T>C (p.Val365Ala) rs2131960121
NM_000368.5(TSC1):c.1095C>T (p.Val365=) rs2131960043
NM_000368.5(TSC1):c.1096C>A (p.Pro366Thr)
NM_000368.5(TSC1):c.1096C>T (p.Pro366Ser) rs1041988929
NM_000368.5(TSC1):c.1096_1109del (p.Pro366fs) rs118203494
NM_000368.5(TSC1):c.109C>A (p.Arg37Ser) rs1309560054
NM_000368.5(TSC1):c.10C>T (p.Gln4Ter) rs753838459
NM_000368.5(TSC1):c.1102G>A (p.Asp368Asn)
NM_000368.5(TSC1):c.1102G>C (p.Asp368His) rs2131959427
NM_000368.5(TSC1):c.1105C>G (p.Leu369Val) rs118203496
NM_000368.5(TSC1):c.1107G>A (p.Leu369=) rs909737447
NM_000368.5(TSC1):c.1107G>T (p.Leu369=) rs909737447
NM_000368.5(TSC1):c.1109C>T (p.Ser370Leu) rs796053457
NM_000368.5(TSC1):c.1110A>C (p.Ser370=) rs371648887
NM_000368.5(TSC1):c.1113C>A (p.His371Gln) rs771217333
NM_000368.5(TSC1):c.1119C>G (p.Tyr373Ter)
NM_000368.5(TSC1):c.1119C>T (p.Tyr373=)
NM_000368.5(TSC1):c.1119_1123del (p.Tyr373_Lys375delinsTer) rs1588322764
NM_000368.5(TSC1):c.1120A>G (p.Ser374Gly) rs2131957774
NM_000368.5(TSC1):c.1121G>A (p.Ser374Asn) rs1564488001
NM_000368.5(TSC1):c.1123A>G (p.Lys375Glu) rs1564487989
NM_000368.5(TSC1):c.1125A>T (p.Lys375Asn) rs2131957415
NM_000368.5(TSC1):c.1127T>A (p.Val376Asp) rs1588322703
NM_000368.5(TSC1):c.1128C>G (p.Val376=) rs1419093686
NM_000368.5(TSC1):c.1129T>C (p.Phe377Leu) rs1845926660
NM_000368.5(TSC1):c.112G>T (p.Gly38Cys) rs1846929239
NM_000368.5(TSC1):c.1130_1131del (p.Phe377fs) rs1554817222
NM_000368.5(TSC1):c.1133G>A (p.Gly378Asp)
NM_000368.5(TSC1):c.1136C>T (p.Thr379Ile) rs1060503193
NM_000368.5(TSC1):c.1137A>T (p.Thr379=) rs2131956465
NM_000368.5(TSC1):c.1138A>G (p.Thr380Ala) rs1060503216
NM_000368.5(TSC1):c.1138_1141+1del
NM_000368.5(TSC1):c.1139C>T (p.Thr380Ile) rs1064796512
NM_000368.5(TSC1):c.113_114delinsAT (p.Gly38Asp)
NM_000368.5(TSC1):c.1141+11C>A
NM_000368.5(TSC1):c.1141+12_1141+13insG
NM_000368.5(TSC1):c.1141+14A>G
NM_000368.5(TSC1):c.1141+15_1141+23del
NM_000368.5(TSC1):c.1141+16G>A rs2131955589
NM_000368.5(TSC1):c.1141+16G>T
NM_000368.5(TSC1):c.1141+18T>G
NM_000368.5(TSC1):c.1141+19G>C rs772553802
NM_000368.5(TSC1):c.1141+1G>A rs397514819
NM_000368.5(TSC1):c.1141+3A>G
NM_000368.5(TSC1):c.1141+4T>C
NM_000368.5(TSC1):c.1141+5G>A rs1845924784
NM_000368.5(TSC1):c.1141+7A>C
NM_000368.5(TSC1):c.1141+9G>A
NM_000368.5(TSC1):c.1141+9G>T rs2131955840
NM_000368.5(TSC1):c.1142-10T>C
NM_000368.5(TSC1):c.1142-11T>C
NM_000368.5(TSC1):c.1142-12C>A rs1845908709
NM_000368.5(TSC1):c.1142-16del
NM_000368.5(TSC1):c.1142-17C>T rs1845909117
NM_000368.5(TSC1):c.1142-9G>A rs1554817169
NM_000368.5(TSC1):c.1142-9G>C rs1554817169
NM_000368.5(TSC1):c.1142C>G (p.Ala381Gly)
NM_000368.5(TSC1):c.1143A>G (p.Ala381=) rs2131948061
NM_000368.5(TSC1):c.1145G>A (p.Gly382Asp) rs1460150475
NM_000368.5(TSC1):c.1148G>A (p.Gly383Glu) rs1554817166
NM_000368.5(TSC1):c.114C>T (p.Gly38=)
NM_000368.5(TSC1):c.1151A>G (p.Lys384Arg) rs1845907002
NM_000368.5(TSC1):c.1153G>A (p.Gly385Arg) rs2131947237
NM_000368.5(TSC1):c.1156A>C (p.Thr386Pro)
NM_000368.5(TSC1):c.1156del (p.Thr386fs) rs2131946983
NM_000368.5(TSC1):c.1157C>A (p.Thr386Asn) rs1845906487
NM_000368.5(TSC1):c.1159C>T (p.Pro387Ser)
NM_000368.5(TSC1):c.115C>G (p.Pro39Ala) rs1588359851
NM_000368.5(TSC1):c.1160C>T (p.Pro387Leu)
NM_000368.5(TSC1):c.1161T>C (p.Pro387=)
NM_000368.5(TSC1):c.1162_1163del (p.Leu388fs) rs1064793844
NM_000368.5(TSC1):c.1165G>A (p.Gly389Arg)
NM_000368.5(TSC1):c.1167A>C (p.Gly389=) rs876660723
NM_000368.5(TSC1):c.1167A>G (p.Gly389=) rs876660723
NM_000368.5(TSC1):c.1167A>T (p.Gly389=) rs876660723
NM_000368.5(TSC1):c.116C>G (p.Pro39Arg) rs770831962
NM_000368.5(TSC1):c.116C>T (p.Pro39Leu)
NM_000368.5(TSC1):c.116del (p.Pro39fs)
NM_000368.5(TSC1):c.1172del (p.Pro391fs) rs2131945572
NM_000368.5(TSC1):c.1173A>G (p.Pro391=) rs2131945460
NM_000368.5(TSC1):c.1177A>G (p.Thr393Ala)
NM_000368.5(TSC1):c.1177A>T (p.Thr393Ser) rs1845904791
NM_000368.5(TSC1):c.1178C>A (p.Thr393Asn) rs201452238
NM_000368.5(TSC1):c.1179C>G (p.Thr393=)
NM_000368.5(TSC1):c.1179C>T (p.Thr393=) rs2131944935
NM_000368.5(TSC1):c.1182TCC[6] (p.Pro395_Pro397dup) rs1845904104
NM_000368.5(TSC1):c.1183C>G (p.Pro395Ala)
NM_000368.5(TSC1):c.1183C>T (p.Pro395Ser) rs1845904525
NM_000368.5(TSC1):c.1184C>T (p.Pro395Leu) rs1845904421
NM_000368.5(TSC1):c.1186C>A (p.Pro396Thr)
NM_000368.5(TSC1):c.1186C>T (p.Pro396Ser) rs1845904238
NM_000368.5(TSC1):c.1189C>G (p.Pro397Ala)
NM_000368.5(TSC1):c.1192del (p.Ala398fs) rs2131943928
NM_000368.5(TSC1):c.1194C>G (p.Ala398=) rs1060504861
NM_000368.5(TSC1):c.1195C>G (p.Pro399Ala) rs1060503211
NM_000368.5(TSC1):c.1195C>T (p.Pro399Ser) rs1060503211
NM_000368.5(TSC1):c.1197A>C (p.Pro399=) rs2131943425
NM_000368.5(TSC1):c.1197A>G (p.Pro399=) rs2131943425
NM_000368.5(TSC1):c.1197A>T (p.Pro399=) rs2131943425
NM_000368.5(TSC1):c.1198C>G (p.Leu400Val)
NM_000368.5(TSC1):c.1198C>T (p.Leu400Phe) rs773160913
NM_000368.5(TSC1):c.11A>C (p.Gln4Pro)
NM_000368.5(TSC1):c.1200_1201del (p.Cys401fs) rs1554817140
NM_000368.5(TSC1):c.1201del (p.Cys401fs) rs2131943046
NM_000368.5(TSC1):c.1202G>A (p.Cys401Tyr) rs2131942881
NM_000368.5(TSC1):c.1206T>A (p.His402Gln) rs1845902050
NM_000368.5(TSC1):c.1206T>C (p.His402=) rs1845902050
NM_000368.5(TSC1):c.1207T>G (p.Ser403Ala) rs1845901815
NM_000368.5(TSC1):c.1208C>A (p.Ser403Ter) rs118203504
NM_000368.5(TSC1):c.1209G>C (p.Ser403=)
NM_000368.5(TSC1):c.1209G>T (p.Ser403=) rs141184479
NM_000368.5(TSC1):c.120G>A (p.Met40Ile) rs1480174819
NM_000368.5(TSC1):c.1210G>T (p.Asp404Tyr) rs1845900843
NM_000368.5(TSC1):c.1211A>T (p.Asp404Val) rs1554817130
NM_000368.5(TSC1):c.1212T>C (p.Asp404=) rs2131941843
NM_000368.5(TSC1):c.1215C>G (p.Asp405Glu) rs2131941639
NM_000368.5(TSC1):c.1216T>C (p.Tyr406His) rs1554817128
NM_000368.5(TSC1):c.1219G>C (p.Val407Leu) rs769331772
NM_000368.5(TSC1):c.1219G>T (p.Val407Leu) rs769331772
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.5(TSC1):c.1223A>C (p.His408Pro) rs1554817122
NM_000368.5(TSC1):c.1223A>G (p.His408Arg) rs1554817122
NM_000368.5(TSC1):c.1225A>T (p.Ile409Phe)
NM_000368.5(TSC1):c.1226T>C (p.Ile409Thr) rs1474143751
NM_000368.5(TSC1):c.1228del (p.Ser410fs) rs1845899274
NM_000368.5(TSC1):c.1229C>A (p.Ser410Ter)
NM_000368.5(TSC1):c.1229C>T (p.Ser410Leu) rs1564487289
NM_000368.5(TSC1):c.1230A>C (p.Ser410=) rs2131940277
NM_000368.5(TSC1):c.1231C>G (p.Leu411Val) rs397514840
NM_000368.5(TSC1):c.1231C>T (p.Leu411Phe) rs397514840
NM_000368.5(TSC1):c.1232T>C (p.Leu411Pro)
NM_000368.5(TSC1):c.1234C>A (p.Pro412Thr) rs2131939930
NM_000368.5(TSC1):c.1234C>T (p.Pro412Ser)
NM_000368.5(TSC1):c.1235C>T (p.Pro412Leu) rs1845897946
NM_000368.5(TSC1):c.1236C>T (p.Pro412=) rs1588321355
NM_000368.5(TSC1):c.1237del (p.Gln413fs) rs1588321344
NM_000368.5(TSC1):c.1238A>C (p.Gln413Pro)
NM_000368.5(TSC1):c.1239G>C (p.Gln413His) rs786203715
NM_000368.5(TSC1):c.123T>A (p.Leu41=) rs1846926807
NM_000368.5(TSC1):c.1245A>G (p.Thr415=) rs2131939065
NM_000368.5(TSC1):c.1246G>T (p.Val416Phe)
NM_000368.5(TSC1):c.1247T>A (p.Val416Asp)
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys) rs77464996
NM_000368.5(TSC1):c.1250del (p.Thr417fs) rs397514778
NM_000368.5(TSC1):c.1252C>A (p.Pro418Thr) rs1845895299
NM_000368.5(TSC1):c.1252C>G (p.Pro418Ala) rs1845895299
NM_000368.5(TSC1):c.1252C>T (p.Pro418Ser) rs1845895299
NM_000368.5(TSC1):c.1253C>G (p.Pro418Arg) rs997339959
NM_000368.5(TSC1):c.1253C>T (p.Pro418Leu)
NM_000368.5(TSC1):c.1255C>A (p.Pro419Thr)
NM_000368.5(TSC1):c.1255C>G (p.Pro419Ala) rs765145057
NM_000368.5(TSC1):c.1255C>T (p.Pro419Ser) rs765145057
NM_000368.5(TSC1):c.1256C>A (p.Pro419His) rs878853959
NM_000368.5(TSC1):c.1256C>T (p.Pro419Leu) rs878853959
NM_000368.5(TSC1):c.1257C>A (p.Pro419=) rs369642207
NM_000368.5(TSC1):c.1257C>T (p.Pro419=) rs369642207
NM_000368.5(TSC1):c.1257del (p.Arg420fs) rs118203506
NM_000368.5(TSC1):c.1257dup (p.Arg420fs)
NM_000368.5(TSC1):c.1258A>G (p.Arg420Gly) rs1554817078
NM_000368.5(TSC1):c.125T>A (p.Val42Glu) rs1846926218
NM_000368.5(TSC1):c.1260G>A (p.Arg420=)
NM_000368.5(TSC1):c.1263+17C>T
NM_000368.5(TSC1):c.1263+18T>C
NM_000368.5(TSC1):c.1263+4C>T rs1554817077
NM_000368.5(TSC1):c.1263+7T>C
NM_000368.5(TSC1):c.1263+8C>A
NM_000368.5(TSC1):c.1263+8C>T
NM_000368.5(TSC1):c.1264-10A>G rs994736836
NM_000368.5(TSC1):c.1264-13C>A
NM_000368.5(TSC1):c.1264-16A>G rs2131883904
NM_000368.5(TSC1):c.1264-16A>T
NM_000368.5(TSC1):c.1264-17G>T rs1845730385
NM_000368.5(TSC1):c.1264-1G>A rs1554816432
NM_000368.5(TSC1):c.1264-3C>A rs1194717065
NM_000368.5(TSC1):c.1264-3C>T rs1194717065
NM_000368.5(TSC1):c.1264-6T>A rs370778877
NM_000368.5(TSC1):c.1264-6T>C rs370778877
NM_000368.5(TSC1):c.1264-8C>T
NM_000368.5(TSC1):c.1264G>A (p.Glu422Lys) rs1845729073
NM_000368.5(TSC1):c.1265A>G (p.Glu422Gly) rs2131883216
NM_000368.5(TSC1):c.1267G>A (p.Glu423Lys)
NM_000368.5(TSC1):c.1269G>A (p.Glu423=) rs1272450087
NM_000368.5(TSC1):c.126A>G (p.Val42=)
NM_000368.5(TSC1):c.1270A>C (p.Arg424=) rs1845728736
NM_000368.5(TSC1):c.1270A>T (p.Arg424Ter)
NM_000368.5(TSC1):c.1271G>A (p.Arg424Lys)
NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs) rs118203509
NM_000368.5(TSC1):c.1274T>G (p.Met425Arg)
NM_000368.5(TSC1):c.1275G>A (p.Met425Ile) rs2131882532
NM_000368.5(TSC1):c.1279T>G (p.Ser427Ala)
NM_000368.5(TSC1):c.1279del (p.Ser427fs) rs118203510
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu) rs587778721
NM_000368.5(TSC1):c.1285_1298del (p.Arg429fs) rs2131880971
NM_000368.5(TSC1):c.1286G>C (p.Arg429Thr) rs1845727586
NM_000368.5(TSC1):c.1288C>A (p.Pro430Thr)
NM_000368.5(TSC1):c.1289C>T (p.Pro430Leu) rs1845727308
NM_000368.5(TSC1):c.1289_1290insGCGCGGACC (p.Pro430_Cys431insArgGlyPro) rs1554816418
NM_000368.5(TSC1):c.1290A>T (p.Pro430=)
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg) rs762688935
NM_000368.5(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.5(TSC1):c.1297C>A (p.His433Asn)
NM_000368.5(TSC1):c.1297C>T (p.His433Tyr)
NM_000368.5(TSC1):c.1298A>G (p.His433Arg) rs1554816403
NM_000368.5(TSC1):c.1299C>G (p.His433Gln) rs1275474831
NM_000368.5(TSC1):c.1299C>T (p.His433=)
NM_000368.5(TSC1):c.129C>T (p.Asn43=) rs2132270030
NM_000368.5(TSC1):c.129delinsAA (p.Asn43fs)
NM_000368.5(TSC1):c.12A>G (p.Gln4=) rs1588363707
NM_000368.5(TSC1):c.12A>T (p.Gln4His)
NM_000368.5(TSC1):c.1301dup (p.Gln435fs) rs1554816394
NM_000368.5(TSC1):c.1304A>G (p.Gln435Arg) rs2131880323
NM_000368.5(TSC1):c.1305A>C (p.Gln435His) rs1334781311
NM_000368.5(TSC1):c.1306C>T (p.His436Tyr) rs1845725716
NM_000368.5(TSC1):c.1308C>A (p.His436Gln)
NM_000368.5(TSC1):c.1309C>T (p.His437Tyr) rs985183299
NM_000368.5(TSC1):c.1309dup (p.His437fs)
NM_000368.5(TSC1):c.130A>T (p.Thr44Ser) rs1399266964
NM_000368.5(TSC1):c.1311TCT[1] (p.Leu439del)
NM_000368.5(TSC1):c.1312C>T (p.Leu438Phe)
NM_000368.5(TSC1):c.1317G>T (p.Leu439=)
NM_000368.5(TSC1):c.1319A>G (p.Asn440Ser) rs2131879422
NM_000368.5(TSC1):c.1323C>T (p.Asp441=) rs2131879178
NM_000368.5(TSC1):c.1324A>G (p.Arg442Gly) rs1845724649
NM_000368.5(TSC1):c.1324A>T (p.Arg442Ter) rs1845724649
NM_000368.5(TSC1):c.1325G>A (p.Arg442Lys)
NM_000368.5(TSC1):c.1326_1327del (p.Gly443fs) rs1064795285
NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg) rs760470520
NM_000368.5(TSC1):c.1329A>G (p.Gly443=)
NM_000368.5(TSC1):c.1329A>T (p.Gly443=)
NM_000368.5(TSC1):c.132C>T (p.Thr44=) rs2132269698
NM_000368.5(TSC1):c.1330T>A (p.Ser444Thr)
NM_000368.5(TSC1):c.1332A>C (p.Ser444=) rs773003016
NM_000368.5(TSC1):c.1333+12G>A
NM_000368.5(TSC1):c.1333+14G>T
NM_000368.5(TSC1):c.1333+20A>G rs755910753
NM_000368.5(TSC1):c.1333+6A>T
NM_000368.5(TSC1):c.1333+6del rs1060503212
NM_000368.5(TSC1):c.1333+7T>A rs1588313945
NM_000368.5(TSC1):c.1333+9T>A rs747629498
NM_000368.5(TSC1):c.1333+9T>C rs747629498
NM_000368.5(TSC1):c.1334-14_1334-13del rs2131869840
NM_000368.5(TSC1):c.1334-19T>G
NM_000368.5(TSC1):c.1334-20T>C rs1373490108
NM_000368.5(TSC1):c.1334-20T>G
NM_000368.5(TSC1):c.1334-30_1344del
NM_000368.5(TSC1):c.1334-3C>T rs766782582
NM_000368.5(TSC1):c.1334A>G (p.Glu445Gly) rs2131869266
NM_000368.5(TSC1):c.1336G>T (p.Glu446Ter) rs1845700817
NM_000368.5(TSC1):c.1338G>A (p.Glu446=) rs1410493156
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala) rs1588313030
NM_000368.5(TSC1):c.133T>G (p.Leu45Val) rs755226092
NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu) rs772868048
NM_000368.5(TSC1):c.1342C>A (p.Pro448Thr) rs118203518
NM_000368.5(TSC1):c.1343C>T (p.Pro448Leu) rs397514848
NM_000368.5(TSC1):c.1344T>C (p.Pro448=) rs530908428
NM_000368.5(TSC1):c.1344del (p.Gly449fs)
NM_000368.5(TSC1):c.1345G>A (p.Gly449Ser)
NM_000368.5(TSC1):c.1347C>A (p.Gly449=) rs1588312954
NM_000368.5(TSC1):c.1347C>T (p.Gly449=)
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000368.5(TSC1):c.1350C>T (p.Ser450=) rs773780814
NM_000368.5(TSC1):c.1351A>C (p.Lys451Gln)
NM_000368.5(TSC1):c.1355G>A (p.Gly452Asp) rs371093730
NM_000368.5(TSC1):c.1358C>T (p.Ser453Phe) rs1271797824
NM_000368.5(TSC1):c.1359T>C (p.Ser453=) rs1468470312
NM_000368.5(TSC1):c.1361T>C (p.Val454Ala) rs2131867114
NM_000368.5(TSC1):c.1364C>G (p.Thr455Ser)
NM_000368.5(TSC1):c.1367dup (p.Ser457fs) rs1554816245
NM_000368.5(TSC1):c.1368A>C (p.Leu456=) rs397514856
NM_000368.5(TSC1):c.1368A>G (p.Leu456=) rs397514856
NM_000368.5(TSC1):c.1369del (p.Ser457fs) rs118203523
NM_000368.5(TSC1):c.1370G>A (p.Ser457Asn) rs2131866202
NM_000368.5(TSC1):c.1372G>C (p.Asp458His) rs2131866030
NM_000368.5(TSC1):c.1374T>A (p.Asp458Glu) rs2131865879
NM_000368.5(TSC1):c.1376T>A (p.Leu459His) rs1554816231
NM_000368.5(TSC1):c.1379del (p.Pro460fs) rs118203525
NM_000368.5(TSC1):c.1381G>A (p.Gly461Arg)
NM_000368.5(TSC1):c.1382_1385del (p.Gly461fs) rs2131865150
NM_000368.5(TSC1):c.1383G>A (p.Gly461=)
NM_000368.5(TSC1):c.1388dup (p.Leu463fs) rs1064796237
NM_000368.5(TSC1):c.1389del (p.Gly464fs) rs1588312765
NM_000368.5(TSC1):c.1390G>A (p.Gly464Ser)
NM_000368.5(TSC1):c.1391G>A (p.Gly464Asp) rs1845696020
NM_000368.5(TSC1):c.1392T>C (p.Gly464=) rs1588312747
NM_000368.5(TSC1):c.1396C>T (p.Leu466=) rs2131864374
NM_000368.5(TSC1):c.139del (p.Asp47fs) rs2132269239
NM_000368.5(TSC1):c.13G>A (p.Ala5Thr) rs2132297148
NM_000368.5(TSC1):c.1403C>G (p.Ser468Cys) rs1845695519
NM_000368.5(TSC1):c.1403C>T (p.Ser468Phe) rs1845695519
NM_000368.5(TSC1):c.1404T>C (p.Ser468=)
NM_000368.5(TSC1):c.1405G>A (p.Glu469Lys) rs2131863649
NM_000368.5(TSC1):c.1407A>G (p.Glu469=) rs1272855447
NM_000368.5(TSC1):c.1407AGA[1] (p.Glu470del) rs1564483296
NM_000368.5(TSC1):c.140_146del (p.Asp47fs)
NM_000368.5(TSC1):c.1410A>G (p.Glu470=) rs2131863384
NM_000368.5(TSC1):c.1412A>T (p.Asp471Val) rs2131863099
NM_000368.5(TSC1):c.1412del (p.Asp471fs) rs2131863156
NM_000368.5(TSC1):c.1413T>C (p.Asp471=) rs1588312706
NM_000368.5(TSC1):c.1414A>G (p.Ser472Gly)
NM_000368.5(TSC1):c.1415G>A (p.Ser472Asn) rs1203620977
NM_000368.5(TSC1):c.1415G>C (p.Ser472Thr) rs1203620977
NM_000368.5(TSC1):c.1418T>G (p.Ile473Ser)
NM_000368.5(TSC1):c.141T>G (p.Asp47Glu)
NM_000368.5(TSC1):c.1420G>C (p.Glu474Gln) rs2131862581
NM_000368.5(TSC1):c.1424A>G (p.Lys475Arg) rs2131862407
NM_000368.5(TSC1):c.1426G>A (p.Asp476Asn)
NM_000368.5(TSC1):c.1429A>G (p.Lys477Glu)
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr) rs1554816213
NM_000368.5(TSC1):c.1430AAG[2] (p.Glu479del) rs1233867963
NM_000368.5(TSC1):c.1431A>G (p.Lys477=) rs2131862006
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) rs118203527
NM_000368.5(TSC1):c.1432G>T (p.Glu478Ter) rs1393065957
NM_000368.5(TSC1):c.1433A>G (p.Glu478Gly) rs118203529
NM_000368.5(TSC1):c.1438+12G>A rs1845690448
NM_000368.5(TSC1):c.1438+14G>A
NM_000368.5(TSC1):c.1438+14G>C
NM_000368.5(TSC1):c.1438+14G>T
NM_000368.5(TSC1):c.1438+14del rs2131860823
NM_000368.5(TSC1):c.1438+19C>T
NM_000368.5(TSC1):c.1438+5T>C rs1060503215
NM_000368.5(TSC1):c.1438+8A>G rs1588312550
NM_000368.5(TSC1):c.1438+9T>C
NM_000368.5(TSC1):c.1439-10T>C
NM_000368.5(TSC1):c.1439-10_1439-3del rs753878222
NM_000368.5(TSC1):c.1439-11C>T
NM_000368.5(TSC1):c.1439-13del rs2131851882
NM_000368.5(TSC1):c.1439-15C>G
NM_000368.5(TSC1):c.1439-15CT[2]
NM_000368.5(TSC1):c.1439-1G>A rs397514804
NM_000368.5(TSC1):c.1439-1G>C rs397514804
NM_000368.5(TSC1):c.1439-20G>C
NM_000368.5(TSC1):c.1439-20_1439-9del rs1064792996
NM_000368.5(TSC1):c.1439-2A>G rs118203531
NM_000368.5(TSC1):c.1439-3C>T rs2131851362
NM_000368.5(TSC1):c.1439-5C>T rs2131851498
NM_000368.5(TSC1):c.1439-6T>G rs1845661202
NM_000368.5(TSC1):c.1439-7C>A rs1588311354
NM_000368.5(TSC1):c.1439-7C>T rs1588311354
NM_000368.5(TSC1):c.143A>G (p.Tyr48Cys)
NM_000368.5(TSC1):c.1442C>A (p.Ala481Glu)
NM_000368.5(TSC1):c.1442C>T (p.Ala481Val) rs775367219
NM_000368.5(TSC1):c.1443A>C (p.Ala481=) rs1554816081
NM_000368.5(TSC1):c.1443A>G (p.Ala481=) rs1554816081
NM_000368.5(TSC1):c.1445T>C (p.Ile482Thr)
NM_000368.5(TSC1):c.1446A>G (p.Ile482Met) rs1845658834
NM_000368.5(TSC1):c.1446_1447del (p.Ile482_Ser483insTer) rs1554816076
NM_000368.5(TSC1):c.1448C>T (p.Ser483Phe) rs1588311235
NM_000368.5(TSC1):c.144T>G (p.Tyr48Ter)
NM_000368.5(TSC1):c.1450A>T (p.Arg484Ter) rs2131850310
NM_000368.5(TSC1):c.1451G>A (p.Arg484Lys)
NM_000368.5(TSC1):c.1453G>T (p.Glu485Ter) rs1564482622
NM_000368.5(TSC1):c.1454A>T (p.Glu485Val) rs2131850010
NM_000368.5(TSC1):c.1459T>C (p.Ser487Pro)
NM_000368.5(TSC1):c.1460C>A (p.Ser487Tyr) rs118203532
NM_000368.5(TSC1):c.1461T>C (p.Ser487=) rs2131849603
NM_000368.5(TSC1):c.1464G>A (p.Glu488=) rs1588311193
NM_000368.5(TSC1):c.1464G>C (p.Glu488Asp)
NM_000368.5(TSC1):c.1465A>T (p.Ile489Phe) rs1564482602
NM_000368.5(TSC1):c.1467C>T (p.Ile489=) rs2131849203
NM_000368.5(TSC1):c.1467CAC[1] (p.Thr491del) rs1554816071
NM_000368.5(TSC1):c.1469C>A (p.Thr490Asn)
NM_000368.5(TSC1):c.1469C>T (p.Thr490Ile) rs1564482593
NM_000368.5(TSC1):c.146A>G (p.Tyr49Cys)
NM_000368.5(TSC1):c.146A>T (p.Tyr49Phe)
NM_000368.5(TSC1):c.146del (p.Tyr49fs) rs397514861
NM_000368.5(TSC1):c.1470C>A (p.Thr490=) rs2131848951
NM_000368.5(TSC1):c.1472C>G (p.Thr491Arg)
NM_000368.5(TSC1):c.1472C>T (p.Thr491Ile) rs1554816070
NM_000368.5(TSC1):c.1473A>C (p.Thr491=) rs1588311152
NM_000368.5(TSC1):c.1473A>G (p.Thr491=) rs1588311152
NM_000368.5(TSC1):c.1475C>T (p.Ala492Val)
NM_000368.5(TSC1):c.1476A>C (p.Ala492=) rs1554816067
NM_000368.5(TSC1):c.1477G>C (p.Glu493Gln)
NM_000368.5(TSC1):c.1479G>C (p.Glu493Asp)
NM_000368.5(TSC1):c.147C>G (p.Tyr49Ter) rs2132268804
NM_000368.5(TSC1):c.147C>T (p.Tyr49=) rs2132268804
NM_000368.5(TSC1):c.147_157del (p.Tyr49_Ser53delinsTer)
NM_000368.5(TSC1):c.1480G>A (p.Ala494Thr) rs1845656527
NM_000368.5(TSC1):c.1480del (p.Ala494fs)
NM_000368.5(TSC1):c.1481C>G (p.Ala494Gly)
NM_000368.5(TSC1):c.1481C>T (p.Ala494Val)
NM_000368.5(TSC1):c.1482A>G (p.Ala494=)
NM_000368.5(TSC1):c.1483G>A (p.Glu495Lys) rs1845656110
NM_000368.5(TSC1):c.1486_1504del (p.Pro496fs) rs1845654716
NM_000368.5(TSC1):c.1487C>T (p.Pro496Leu)
NM_000368.5(TSC1):c.1488T>C (p.Pro496=) rs2131847678
NM_000368.5(TSC1):c.1489G>A (p.Val497Met) rs946491568
NM_000368.5(TSC1):c.1489G>C (p.Val497Leu) rs946491568
NM_000368.5(TSC1):c.148C>G (p.Leu50Val) rs2132268675
NM_000368.5(TSC1):c.1491G>A (p.Val497=) rs1554816056
NM_000368.5(TSC1):c.1491_1493dup (p.Val498_Pro499insVal)
NM_000368.5(TSC1):c.1492G>A (p.Val498Ile)
NM_000368.5(TSC1):c.1497T>G (p.Pro499=) rs1588311053
NM_000368.5(TSC1):c.1498C>A (p.Arg500=) rs118203537
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.5(TSC1):c.1499G>A (p.Arg500Gln) rs118203538
NM_000368.5(TSC1):c.149T>C (p.Leu50Pro) rs118203341
NM_000368.5(TSC1):c.1503A>C (p.Gly501=) rs201810746
NM_000368.5(TSC1):c.1510G>T (p.Asp504Tyr)
NM_000368.5(TSC1):c.1514C>G (p.Ser505Cys) rs2131845783
NM_000368.5(TSC1):c.1515_1516del (p.Pro506fs) rs281875358
NM_000368.5(TSC1):c.1516C>A (p.Pro506Thr) rs2131845533
NM_000368.5(TSC1):c.1517C>A (p.Pro506His) rs2131845442
NM_000368.5(TSC1):c.1518C>A (p.Pro506=)
NM_000368.5(TSC1):c.1518C>G (p.Pro506=) rs1588310935
NM_000368.5(TSC1):c.1518C>T (p.Pro506=) rs1588310935
NM_000368.5(TSC1):c.1518del (p.Tyr508fs) rs1060503210
NM_000368.5(TSC1):c.151G>C (p.Glu51Gln)
NM_000368.5(TSC1):c.1522T>C (p.Tyr508His)
NM_000368.5(TSC1):c.1523A>G (p.Tyr508Cys) rs1845653443
NM_000368.5(TSC1):c.1524C>G (p.Tyr508Ter)
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1526G>T (p.Arg509Leu)
NM_000368.5(TSC1):c.1527A>C (p.Arg509=) rs2131844667
NM_000368.5(TSC1):c.1527del (p.Asp510fs) rs1845652716
NM_000368.5(TSC1):c.1530C>T (p.Asp510=) rs1554816033
NM_000368.5(TSC1):c.1530_1531del (p.Asp510fs) rs118203544
NM_000368.5(TSC1):c.1531A>G (p.Ser511Gly)
NM_000368.5(TSC1):c.1531dup (p.Ser511fs) rs1845652182
NM_000368.5(TSC1):c.1533T>C (p.Ser511=) rs1588310849
NM_000368.5(TSC1):c.1534C>T (p.Leu512Phe)
NM_000368.5(TSC1):c.1535_1536dup (p.Pro513fs)
NM_000368.5(TSC1):c.1536C>T (p.Leu512=) rs1264512400
NM_000368.5(TSC1):c.1538_1997+108del
NM_000368.5(TSC1):c.1539A>T (p.Pro513=)
NM_000368.5(TSC1):c.1541G>A (p.Gly514Asp) rs1564482313
NM_000368.5(TSC1):c.1541_1549delinsTG (p.Gly514fs) rs1564482288
NM_000368.5(TSC1):c.1542T>G (p.Gly514=) rs2131843378
NM_000368.5(TSC1):c.1546C>G (p.Gln516Glu)
NM_000368.5(TSC1):c.1546C>T (p.Gln516Ter) rs1588310754
NM_000368.5(TSC1):c.1548G>A (p.Gln516=)
NM_000368.5(TSC1):c.1548del (p.Gln516fs)
NM_000368.5(TSC1):c.1549C>A (p.Arg517=) rs1243886871
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp) rs1243886871
NM_000368.5(TSC1):c.1557C>G (p.Thr519=) rs2131842231
NM_000368.5(TSC1):c.1558C>A (p.His520Asn)
NM_000368.5(TSC1):c.1558C>T (p.His520Tyr) rs1845649293
NM_000368.5(TSC1):c.1562C>G (p.Ser521Trp) rs759379027
NM_000368.5(TSC1):c.1563G>A (p.Ser521=) rs1554816005
NM_000368.5(TSC1):c.1563G>C (p.Ser521=) rs1554816005
NM_000368.5(TSC1):c.1565C>G (p.Ala522Gly) rs1845647948
NM_000368.5(TSC1):c.1565C>T (p.Ala522Val) rs1845647948
NM_000368.5(TSC1):c.1567G>A (p.Ala523Thr) rs118203548
NM_000368.5(TSC1):c.1569C>T (p.Ala523=) rs1234835402
NM_000368.5(TSC1):c.156C>A (p.Thr52=) rs1564503304
NM_000368.5(TSC1):c.156C>G (p.Thr52=) rs1564503304
NM_000368.5(TSC1):c.156C>T (p.Thr52=) rs1564503304
NM_000368.5(TSC1):c.1570T>G (p.Ser524Ala)
NM_000368.5(TSC1):c.1572C>G (p.Ser524=) rs397514810
NM_000368.5(TSC1):c.1573A>C (p.Ser525Arg) rs1845647074
NM_000368.5(TSC1):c.1573A>G (p.Ser525Gly) rs1845647074
NM_000368.5(TSC1):c.1573A>T (p.Ser525Cys)
NM_000368.5(TSC1):c.1574G>A (p.Ser525Asn) rs750784794
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.5(TSC1):c.157A>G (p.Ser53Gly)
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs) rs118203550
NM_000368.5(TSC1):c.1581G>A (p.Gln527=) rs1554815989
NM_000368.5(TSC1):c.1581G>C (p.Gln527His) rs1554815989
NM_000368.5(TSC1):c.1582G>A (p.Gly528Ser) rs1845645876
NM_000368.5(TSC1):c.1582G>T (p.Gly528Cys) rs1845645876
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del) rs766376606
NM_000368.5(TSC1):c.1584C>G (p.Gly528=)
NM_000368.5(TSC1):c.1585G>T (p.Ala529Ser) rs751125011
NM_000368.5(TSC1):c.1586C>T (p.Ala529Val) rs1845645423
NM_000368.5(TSC1):c.1589G>A (p.Ser530Asn) rs368481360
NM_000368.5(TSC1):c.158G>A (p.Ser53Asn) rs1588359592
NM_000368.5(TSC1):c.1591G>T (p.Val531Leu) rs377279170
NM_000368.5(TSC1):c.1595A>G (p.Asn532Ser)
NM_000368.5(TSC1):c.1597C>G (p.Pro533Ala) rs1331420425
NM_000368.5(TSC1):c.1598del (p.Pro533fs)
NM_000368.5(TSC1):c.159C>T (p.Ser53=) rs756335238
NM_000368.5(TSC1):c.15A>G (p.Ala5=)
NM_000368.5(TSC1):c.1600G>A (p.Glu534Lys) rs796053458
NM_000368.5(TSC1):c.1600G>C (p.Glu534Gln)
NM_000368.5(TSC1):c.1601_1602del (p.Glu534fs)
NM_000368.5(TSC1):c.1602_1603delinsTG (p.Glu534_Pro535delinsAspAla) rs1554815972
NM_000368.5(TSC1):c.1607T>A (p.Leu536Ter)
NM_000368.5(TSC1):c.1607T>C (p.Leu536Ser) rs776633158
NM_000368.5(TSC1):c.1607_1616del (p.Leu536fs)
NM_000368.5(TSC1):c.1610_1611del (p.His537fs)
NM_000368.5(TSC1):c.1611C>T (p.His537=) rs898271020
NM_000368.5(TSC1):c.1613C>G (p.Ser538Cys)
NM_000368.5(TSC1):c.1613C>T (p.Ser538Phe) rs1588310350
NM_000368.5(TSC1):c.1614C>T (p.Ser538=) rs878853961
NM_000368.5(TSC1):c.1614del (p.Ser539fs) rs1845643067
NM_000368.5(TSC1):c.1617C>T (p.Ser539=) rs1554815969
NM_000368.5(TSC1):c.1619T>C (p.Leu540Pro) rs1588310300
NM_000368.5(TSC1):c.161C>G (p.Ser54Cys)
NM_000368.5(TSC1):c.161del (p.Ser54fs)
NM_000368.5(TSC1):c.1621G>A (p.Asp541Asn)
NM_000368.5(TSC1):c.1624A>G (p.Lys542Glu) rs1845641716
NM_000368.5(TSC1):c.1624A>T (p.Lys542Ter) rs1845641716
NM_000368.5(TSC1):c.1625A>G (p.Lys542Arg)
NM_000368.5(TSC1):c.1628T>C (p.Leu543Pro) rs1588310271
NM_000368.5(TSC1):c.1628T>G (p.Leu543Arg) rs1588310271
NM_000368.5(TSC1):c.1629T>C (p.Leu543=)
NM_000368.5(TSC1):c.1634C>T (p.Pro545Leu)
NM_000368.5(TSC1):c.1638C>A (p.Asp546Glu)
NM_000368.5(TSC1):c.1638C>T (p.Asp546=) rs2131836226
NM_000368.5(TSC1):c.163C>T (p.Gln55Ter) rs118203343
NM_000368.5(TSC1):c.1640C>T (p.Thr547Ile)
NM_000368.5(TSC1):c.1641A>G (p.Thr547=)
NM_000368.5(TSC1):c.1647G>A (p.Lys549=) rs2131835538
NM_000368.5(TSC1):c.1647G>T (p.Lys549Asn)
NM_000368.5(TSC1):c.1648C>T (p.Gln550Ter)
NM_000368.5(TSC1):c.1649A>T (p.Gln550Leu)
NM_000368.5(TSC1):c.1654_1655delinsCCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTACAAAGTC (p.Phe552fs)
NM_000368.5(TSC1):c.1662C>T (p.Pro554=)
NM_000368.5(TSC1):c.1663A>G (p.Ile555Val) rs2131834436
NM_000368.5(TSC1):c.1666G>T (p.Asp556Tyr)
NM_000368.5(TSC1):c.1668C>A (p.Asp556Glu) rs1845637294
NM_000368.5(TSC1):c.1668C>T (p.Asp556=) rs1845637294
NM_000368.5(TSC1):c.1669C>T (p.Leu557=) rs118203555
NM_000368.5(TSC1):c.1671G>T (p.Leu557=) rs2131833685
NM_000368.5(TSC1):c.1671_1672delinsTT (p.Pro558Ser)
NM_000368.5(TSC1):c.1672C>T (p.Pro558Ser) rs1554815946
NM_000368.5(TSC1):c.1674del (p.Cys559fs)
NM_000368.5(TSC1):c.1677C>A (p.Cys559Ter) rs368317116
NM_000368.5(TSC1):c.1677C>G (p.Cys559Trp)
NM_000368.5(TSC1):c.1679G>A (p.Gly560Asp) rs1395737285
NM_000368.5(TSC1):c.1679G>T (p.Gly560Val) rs1395737285
NM_000368.5(TSC1):c.1679dup (p.Ser561fs) rs2131833003
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs) rs118203557
NM_000368.5(TSC1):c.1680_1702dup (p.Gly568fs) rs118203557
NM_000368.5(TSC1):c.1681A>C (p.Ser561Arg) rs1845635382
NM_000368.5(TSC1):c.1681A>G (p.Ser561Gly) rs1845635382
NM_000368.5(TSC1):c.1684G>A (p.Ala562Thr) rs1845635236
NM_000368.5(TSC1):c.1685C>T (p.Ala562Val) rs377185303
NM_000368.5(TSC1):c.1686T>C (p.Ala562=)
NM_000368.5(TSC1):c.1687G>A (p.Asp563Asn) rs1554815931
NM_000368.5(TSC1):c.1690G>T (p.Glu564Ter)
NM_000368.5(TSC1):c.1691A>G (p.Glu564Gly)
NM_000368.5(TSC1):c.1692_1693dup (p.Ser565fs) rs118203562
NM_000368.5(TSC1):c.1695C>T (p.Ser565=) rs1845634405
NM_000368.5(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.5(TSC1):c.1701G>C (p.Ala567=) rs35478675
NM_000368.5(TSC1):c.1703G>C (p.Gly568Ala) rs1845633233
NM_000368.5(TSC1):c.1703_1705del (p.Gly568del) rs1845632722
NM_000368.5(TSC1):c.1704A>C (p.Gly568=) rs1171240569
NM_000368.5(TSC1):c.1706A>G (p.Asp569Gly) rs1588309831
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs) rs118203564
NM_000368.5(TSC1):c.1709G>C (p.Arg570Thr)
NM_000368.5(TSC1):c.1710G>A (p.Arg570=) rs777386797
NM_000368.5(TSC1):c.1711G>A (p.Glu571Lys)
NM_000368.5(TSC1):c.1713A>G (p.Glu571=) rs1588309781
NM_000368.5(TSC1):c.1715G>C (p.Cys572Ser)
NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs) rs1588309702
NM_000368.5(TSC1):c.1717C>G (p.Gln573Glu) rs118203565
NM_000368.5(TSC1):c.1718A>C (p.Gln573Pro)
NM_000368.5(TSC1):c.1718A>G (p.Gln573Arg) rs2131829461
NM_000368.5(TSC1):c.1719G>A (p.Gln573=) rs1588309743
NM_000368.5(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.5(TSC1):c.171A>T (p.Ala57=)
NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala) rs1454859974
NM_000368.5(TSC1):c.1721C>T (p.Thr574Ile) rs548002938
NM_000368.5(TSC1):c.1724C>A (p.Ser575Tyr) rs118203566
NM_000368.5(TSC1):c.1726T>G (p.Leu576Val)
NM_000368.5(TSC1):c.1726_1727del (p.Leu576fs) rs886041684
NM_000368.5(TSC1):c.1729G>A (p.Glu577Lys) rs118203570
NM_000368.5(TSC1):c.172T>C (p.Leu58=) rs1564503254
NM_000368.5(TSC1):c.1731G>C (p.Glu577Asp) rs118203571
NM_000368.5(TSC1):c.1733C>T (p.Thr578Ile) rs1588309612
NM_000368.5(TSC1):c.1734C>T (p.Thr578=) rs1251871091
NM_000368.5(TSC1):c.1735A>G (p.Ser579Gly) rs1845629411
NM_000368.5(TSC1):c.1737T>C (p.Ser579=) rs1588309585
NM_000368.5(TSC1):c.1738A>T (p.Ile580Phe)
NM_000368.5(TSC1):c.1744A>G (p.Thr582Ala) rs1564481573
NM_000368.5(TSC1):c.1744A>T (p.Thr582Ser) rs1564481573
NM_000368.5(TSC1):c.1746T>G (p.Thr582=) rs2131827290
NM_000368.5(TSC1):c.1747C>G (p.Pro583Ala) rs2131827202
NM_000368.5(TSC1):c.1747C>T (p.Pro583Ser)
NM_000368.5(TSC1):c.1748C>T (p.Pro583Leu) rs2131827057
NM_000368.5(TSC1):c.1749C>T (p.Pro583=) rs876659216
NM_000368.5(TSC1):c.1749del (p.Ser584fs) rs2131827015
NM_000368.5(TSC1):c.174G>A (p.Leu58=)
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr) rs786203799
NM_000368.5(TSC1):c.1752T>G (p.Ser584Arg) rs1845627777
NM_000368.5(TSC1):c.1753C>A (p.Pro585Thr)
NM_000368.5(TSC1):c.1753C>T (p.Pro585Ser) rs766367103
NM_000368.5(TSC1):c.1756T>C (p.Cys586Arg) rs760356610
NM_000368.5(TSC1):c.1757G>A (p.Cys586Tyr) rs1588309480
NM_000368.5(TSC1):c.1758T>C (p.Cys586=) rs1301051974
NM_000368.5(TSC1):c.1758T>G (p.Cys586Trp)
NM_000368.5(TSC1):c.1758del (p.Pro585_Cys586insTer) rs1554815856
NM_000368.5(TSC1):c.1759A>G (p.Lys587Glu) rs397514846
NM_000368.5(TSC1):c.1759A>T (p.Lys587Ter) rs397514846
NM_000368.5(TSC1):c.175C>T (p.His59Tyr)
NM_000368.5(TSC1):c.1768C>T (p.Pro590Ser) rs902419565
NM_000368.5(TSC1):c.176A>C (p.His59Pro) rs757837986
NM_000368.5(TSC1):c.176A>T (p.His59Leu) rs757837986
NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser) rs1429666367
NM_000368.5(TSC1):c.1772C>A (p.Pro591Gln) rs768985094
NM_000368.5(TSC1):c.1772dup (p.Thr592fs)
NM_000368.5(TSC1):c.1773G>C (p.Pro591=)
NM_000368.5(TSC1):c.1773G>T (p.Pro591=) rs146578402
NM_000368.5(TSC1):c.1775C>A (p.Thr592Lys)
NM_000368.5(TSC1):c.1775C>G (p.Thr592Arg) rs775869914
NM_000368.5(TSC1):c.1777A>G (p.Arg593Gly) rs118203581
NM_000368.5(TSC1):c.1781T>A (p.Val594Glu) rs1060503194
NM_000368.5(TSC1):c.1781T>C (p.Val594Ala)
NM_000368.5(TSC1):c.1781T>G (p.Val594Gly)
NM_000368.5(TSC1):c.1781del (p.Val594fs) rs1554815829
NM_000368.5(TSC1):c.1782G>A (p.Val594=) rs1588309238
NM_000368.5(TSC1):c.1782_1786del (p.Gly595fs) rs1554815828
NM_000368.5(TSC1):c.1783G>T (p.Gly595Cys) rs2131824204
NM_000368.5(TSC1):c.1785C>A (p.Gly595=) rs2131824070
NM_000368.5(TSC1):c.1786T>C (p.Phe596Leu)
NM_000368.5(TSC1):c.1787T>G (p.Phe596Cys)
NM_000368.5(TSC1):c.1789G>A (p.Gly597Arg)
NM_000368.5(TSC1):c.1792_1804dup (p.Pro602fs)
NM_000368.5(TSC1):c.1794C>A (p.Ser598Arg) rs766438395
NM_000368.5(TSC1):c.1796G>A (p.Gly599Glu) rs1845622314
NM_000368.5(TSC1):c.1797G>A (p.Gly599=)
NM_000368.5(TSC1):c.1797del (p.Gln600fs) rs2131823012
NM_000368.5(TSC1):c.1798C>T (p.Gln600Ter)
NM_000368.5(TSC1):c.17del (p.Asn6fs) rs2132297010
NM_000368.5(TSC1):c.1800G>A (p.Gln600=)
NM_000368.5(TSC1):c.1802C>A (p.Pro601His) rs543077026
NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu) rs543077026
NM_000368.5(TSC1):c.1804C>A (p.Pro602Thr) rs1588309106
NM_000368.5(TSC1):c.1804C>T (p.Pro602Ser)
NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu) rs1588309097
NM_000368.5(TSC1):c.1806C>T (p.Pro602=)
NM_000368.5(TSC1):c.1808C>A (p.Pro603Gln) rs751247705
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg) rs751247705
NM_000368.5(TSC1):c.1809G>C (p.Pro603=) rs112434645
NM_000368.5(TSC1):c.180C>A (p.Ile60=) rs1162060045
NM_000368.5(TSC1):c.180C>T (p.Ile60=) rs1162060045
NM_000368.5(TSC1):c.1812T>C (p.Tyr604=)
NM_000368.5(TSC1):c.1812T>G (p.Tyr604Ter) rs2131821679
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn) rs1588309025
NM_000368.5(TSC1):c.1813G>C (p.Asp605His) rs1588309025
NM_000368.5(TSC1):c.1814A>G (p.Asp605Gly) rs994264701
NM_000368.5(TSC1):c.1814A>T (p.Asp605Val) rs994264701
NM_000368.5(TSC1):c.1815T>A (p.Asp605Glu) rs2131821441
NM_000368.5(TSC1):c.1815T>C (p.Asp605=)
NM_000368.5(TSC1):c.1817A>C (p.His606Pro) rs1845620152
NM_000368.5(TSC1):c.1817A>G (p.His606Arg)
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe) rs1554815795
NM_000368.5(TSC1):c.181del (p.Ile60_Leu61insTer) rs2132266748
NM_000368.5(TSC1):c.181dup (p.Leu61fs) rs2132266748
NM_000368.5(TSC1):c.1820T>A (p.Leu607His)
NM_000368.5(TSC1):c.1822T>C (p.Phe608Leu) rs1845619679
NM_000368.5(TSC1):c.1824T>G (p.Phe608Leu)
NM_000368.5(TSC1):c.1825G>A (p.Glu609Lys) rs118203587
NM_000368.5(TSC1):c.1825G>T (p.Glu609Ter) rs118203587
NM_000368.5(TSC1):c.1828G>A (p.Val610Met) rs1845619200
NM_000368.5(TSC1):c.1829T>C (p.Val610Ala) rs1845619064
NM_000368.5(TSC1):c.1829T>G (p.Val610Gly) rs1845619064
NM_000368.5(TSC1):c.182T>C (p.Leu61Pro) rs118203345
NM_000368.5(TSC1):c.182T>G (p.Leu61Arg) rs118203345
NM_000368.5(TSC1):c.182del (p.Leu61fs)
NM_000368.5(TSC1):c.1830G>A (p.Val610=) rs2131820356
NM_000368.5(TSC1):c.1833A>G (p.Ala611=) rs1240702401
NM_000368.5(TSC1):c.1834T>C (p.Leu612=) rs2131820086
NM_000368.5(TSC1):c.1837C>T (p.Pro613Ser) rs2131819871
NM_000368.5(TSC1):c.183G>A (p.Leu61=) rs1588359435
NM_000368.5(TSC1):c.1841A>G (p.Lys614Arg)
NM_000368.5(TSC1):c.1844C>T (p.Thr615Ile) rs1588308884
NM_000368.5(TSC1):c.1846G>A (p.Ala616Thr) rs1845618225
NM_000368.5(TSC1):c.1847C>G (p.Ala616Gly)
NM_000368.5(TSC1):c.1848C>G (p.Ala616=) rs752286096
NM_000368.5(TSC1):c.1849_1852dup (p.His618fs) rs2131818738
NM_000368.5(TSC1):c.1849del (p.His617fs) rs1564481122
NM_000368.5(TSC1):c.184A>G (p.Thr62Ala)
NM_000368.5(TSC1):c.1851T>C (p.His617=) rs2131818787
NM_000368.5(TSC1):c.1852C>A (p.His618Asn) rs1588308804
NM_000368.5(TSC1):c.1852C>G (p.His618Asp) rs1588308804
NM_000368.5(TSC1):c.1852C>T (p.His618Tyr) rs1588308804
NM_000368.5(TSC1):c.1853A>G (p.His618Arg) rs2131818558
NM_000368.5(TSC1):c.1854T>C (p.His618=) rs2131818460
NM_000368.5(TSC1):c.1854T>G (p.His618Gln) rs2131818460
NM_000368.5(TSC1):c.1855T>G (p.Phe619Val) rs1554815776
NM_000368.5(TSC1):c.1855_1856inv (p.Phe619Asn)
NM_000368.5(TSC1):c.1858_1859del (p.Val620fs) rs1845617102
NM_000368.5(TSC1):c.1859T>C (p.Val620Ala)
NM_000368.5(TSC1):c.185C>G (p.Thr62Ser)
NM_000368.5(TSC1):c.1860C>T (p.Val620=) rs1588308756
NM_000368.5(TSC1):c.1863C>T (p.Ile621=) rs898222579
NM_000368.5(TSC1):c.1866G>A (p.Arg622=) rs2131817489
NM_000368.5(TSC1):c.1868A>G (p.Lys623Arg)
NM_000368.5(TSC1):c.186C>G (p.Thr62=) rs1554820640
NM_000368.5(TSC1):c.186C>T (p.Thr62=) rs1554820640
NM_000368.5(TSC1):c.1871C>G (p.Thr624Ser) rs754401816
NM_000368.5(TSC1):c.1872T>C (p.Thr624=) rs2131817057
NM_000368.5(TSC1):c.1872T>G (p.Thr624=) rs2131817057
NM_000368.5(TSC1):c.1872dup (p.Glu625Ter) rs2131817146
NM_000368.5(TSC1):c.1873_1876dup (p.Glu626fs) rs2131816800
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala) rs886038287
NM_000368.5(TSC1):c.1876G>A (p.Glu626Lys) rs397514815
NM_000368.5(TSC1):c.1876G>C (p.Glu626Gln)
NM_000368.5(TSC1):c.1876G>T (p.Glu626Ter) rs397514815
NM_000368.5(TSC1):c.1879C>G (p.Leu627Val)
NM_000368.5(TSC1):c.1879C>T (p.Leu627=) rs1171110012
NM_000368.5(TSC1):c.1881G>T (p.Leu627=)
NM_000368.5(TSC1):c.1884_1885delinsGC (p.Lys629Gln) rs1554815756
NM_000368.5(TSC1):c.1888A>G (p.Lys630Glu) rs1158059433
NM_000368.5(TSC1):c.1888A>T (p.Lys630Ter) rs1158059433
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
NM_000368.5(TSC1):c.1889A>C (p.Lys630Thr)
NM_000368.5(TSC1):c.188C>T (p.Thr63Ile) rs1564503204
NM_000368.5(TSC1):c.1891G>A (p.Ala631Thr) rs1845613535
NM_000368.5(TSC1):c.1893A>T (p.Ala631=) rs2131815302
NM_000368.5(TSC1):c.1895A>G (p.Lys632Arg) rs1554815747
NM_000368.5(TSC1):c.1896del (p.Gly633fs) rs1564480935
NM_000368.5(TSC1):c.1897G>A (p.Gly633Arg) rs1471587230
NM_000368.5(TSC1):c.1897G>C (p.Gly633Arg)
NM_000368.5(TSC1):c.1898G>A (p.Gly633Glu) rs1554815746
NM_000368.5(TSC1):c.1898del (p.Gly633fs) rs2131814973
NM_000368.5(TSC1):c.1899_1900insTATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAGCAAAAGGA (p.Asn634fs)
NM_000368.5(TSC1):c.18T>C (p.Asn6=) rs2132296958
NM_000368.5(TSC1):c.1901A>G (p.Asn634Ser) rs2131814737
NM_000368.5(TSC1):c.1903A>C (p.Thr635Pro)
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs) rs118203597
NM_000368.5(TSC1):c.1905A>G (p.Thr635=) rs2131814347
NM_000368.5(TSC1):c.1906G>C (p.Glu636Gln) rs1588308465
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs) rs118203599
NM_000368.5(TSC1):c.1908G>A (p.Glu636=) rs1588308443
NM_000368.5(TSC1):c.1909G>A (p.Glu637Lys)
NM_000368.5(TSC1):c.1911A>C (p.Glu637Asp) rs1845611837
NM_000368.5(TSC1):c.1912G>A (p.Asp638Asn)
NM_000368.5(TSC1):c.1912G>T (p.Asp638Tyr)
NM_000368.5(TSC1):c.1914T>A (p.Asp638Glu)
NM_000368.5(TSC1):c.1914T>C (p.Asp638=)
NM_000368.5(TSC1):c.1914del (p.Asp638fs)
NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp) rs372583166
NM_000368.5(TSC1):c.1918G>A (p.Val640Met) rs1845611376
NM_000368.5(TSC1):c.1918dup (p.Val640fs) rs2131813354
NM_000368.5(TSC1):c.1919T>A (p.Val640Glu) rs2131813212
NM_000368.5(TSC1):c.191T>A (p.Leu64Ter) rs1846916239
NM_000368.5(TSC1):c.1920G>A (p.Val640=)
NM_000368.5(TSC1):c.1920G>C (p.Val640=)
NM_000368.5(TSC1):c.1922C>T (p.Pro641Leu) rs397514863
NM_000368.5(TSC1):c.1925C>T (p.Ser642Phe) rs1845610761
NM_000368.5(TSC1):c.1929del (p.Ser644fs) rs2131812351
NM_000368.5(TSC1):c.192G>T (p.Leu64Phe) rs1554820635
NM_000368.5(TSC1):c.1933C>T (p.Pro645Ser)
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu) rs1269162063
NM_000368.5(TSC1):c.1935A>G (p.Pro645=) rs1588308312
NM_000368.5(TSC1):c.1936dup (p.Met646fs) rs2131811653
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr) rs1588308288
NM_000368.5(TSC1):c.1939G>A (p.Glu647Lys) rs1171512070
NM_000368.5(TSC1):c.1939G>T (p.Glu647Ter) rs1171512070
NM_000368.5(TSC1):c.193C>T (p.Gln65Ter) rs1846915941
NM_000368.5(TSC1):c.1940A>T (p.Glu647Val)
NM_000368.5(TSC1):c.1944G>A (p.Val648=) rs1554815720
NM_000368.5(TSC1):c.1944dup (p.Leu649fs) rs2131811032
NM_000368.5(TSC1):c.1947G>A (p.Leu649=)
NM_000368.5(TSC1):c.194A>C (p.Gln65Pro)
NM_000368.5(TSC1):c.1950C>T (p.Asp650=) rs1845608638
NM_000368.5(TSC1):c.1951del (p.Arg651fs)
NM_000368.5(TSC1):c.1955T>G (p.Leu652Arg)
NM_000368.5(TSC1):c.1956G>T (p.Leu652=) rs2131810069
NM_000368.5(TSC1):c.1956_1960delinsTCAGGG (p.Ile653fs) rs1845607838
NM_000368.5(TSC1):c.1959dup (p.Gln654fs) rs118203603
NM_000368.5(TSC1):c.1960C>A (p.Gln654Lys) rs75820036
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.5(TSC1):c.1961A>G (p.Gln654Arg)
NM_000368.5(TSC1):c.1961_1974del (p.Gln654fs)
NM_000368.5(TSC1):c.1962G>C (p.Gln654His) rs1845607280
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter) rs118203606
NM_000368.5(TSC1):c.1966G>T (p.Gly656Ter) rs2131809131
NM_000368.5(TSC1):c.1967G>C (p.Gly656Ala) rs1554815701
NM_000368.5(TSC1):c.1970C>G (p.Ala657Gly) rs1845606482
NM_000368.5(TSC1):c.1974C>A (p.Asp658Glu) rs118203608
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu) rs118203608
NM_000368.5(TSC1):c.1977G>T (p.Ala659=) rs35958226
NM_000368.5(TSC1):c.1978C>T (p.His660Tyr)
NM_000368.5(TSC1):c.1980C>T (p.His660=) rs2131808112
NM_000368.5(TSC1):c.1983C>T (p.Ser661=)
NM_000368.5(TSC1):c.1985A>C (p.Lys662Thr)
NM_000368.5(TSC1):c.1986G>A (p.Lys662=) rs2131807682
NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter) rs886041538
NM_000368.5(TSC1):c.1987_1988delinsTT (p.Glu663Leu)
NM_000368.5(TSC1):c.1988A>T (p.Glu663Val) rs1845605103
NM_000368.5(TSC1):c.1989G>A (p.Glu663=)
NM_000368.5(TSC1):c.1995C>A (p.Asn665Lys)
NM_000368.5(TSC1):c.1995C>G (p.Asn665Lys) rs748733167
NM_000368.5(TSC1):c.1996A>G (p.Lys666Glu) rs1845604585
NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter) rs1845604585
NM_000368.5(TSC1):c.1997+12G>A
NM_000368.5(TSC1):c.1997+12G>T rs1472417305
NM_000368.5(TSC1):c.1997+13G>A
NM_000368.5(TSC1):c.1997+15C>T
NM_000368.5(TSC1):c.1997+16A>T rs755582593
NM_000368.5(TSC1):c.1997+17C>G rs397514860
NM_000368.5(TSC1):c.1997+17C>T rs397514860
NM_000368.5(TSC1):c.1997+18T>C rs750338319
NM_000368.5(TSC1):c.1997+19C>G
NM_000368.5(TSC1):c.1997+1G>A rs118203610
NM_000368.5(TSC1):c.1997+1G>T rs118203610
NM_000368.5(TSC1):c.1997+2T>G rs2131806725
NM_000368.5(TSC1):c.1997+2dup
NM_000368.5(TSC1):c.1997+3A>C
NM_000368.5(TSC1):c.1997+3A>G rs1554815682
NM_000368.5(TSC1):c.1997+4del rs2131806631
NM_000368.5(TSC1):c.1997+5G>A rs1554815679
NM_000368.5(TSC1):c.1997+6G>A rs553762962
NM_000368.5(TSC1):c.1997+9C>G rs371043832
NM_000368.5(TSC1):c.1997+9C>T rs371043832
NM_000368.5(TSC1):c.1998-10T>C
NM_000368.5(TSC1):c.1998-11dup rs1388433086
NM_000368.5(TSC1):c.1998-14A>C
NM_000368.5(TSC1):c.1998-14A>G rs1845549826
NM_000368.5(TSC1):c.1998-16A>C rs2131789464
NM_000368.5(TSC1):c.1998-16A>T rs2131789464
NM_000368.5(TSC1):c.1998-18C>G rs1845550039
NM_000368.5(TSC1):c.1998-19T>C rs184408837
NM_000368.5(TSC1):c.1998-1G>C rs118203614
NM_000368.5(TSC1):c.1998-1G>T rs118203614
NM_000368.5(TSC1):c.1998-20C>T rs1845550517
NM_000368.5(TSC1):c.1998-24_1998-9dup rs2131789370
NM_000368.5(TSC1):c.1998-2A>C rs1057518217
NM_000368.5(TSC1):c.1998-2A>G rs1057518217
NM_000368.5(TSC1):c.1998-5C>T rs1845548849
NM_000368.5(TSC1):c.1998-7T>C
NM_000368.5(TSC1):c.1998-7T>G rs1845549017
NM_000368.5(TSC1):c.1998-8C>A
NM_000368.5(TSC1):c.1999T>C (p.Leu667=) rs2131788780
NM_000368.5(TSC1):c.19G>A (p.Val7Ile)
NM_000368.5(TSC1):c.2000T>C (p.Leu667Ser)
NM_000368.5(TSC1):c.2000dup (p.Leu667fs)
NM_000368.5(TSC1):c.2001G>A (p.Leu667=)
NM_000368.5(TSC1):c.2006T>C (p.Leu669Ser) rs118203617
NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter) rs118203617
NM_000368.5(TSC1):c.2008C>A (p.Pro670Thr)
NM_000368.5(TSC1):c.2009C>A (p.Pro670His)
NM_000368.5(TSC1):c.2010C>T (p.Pro670=) rs1588305958
NM_000368.5(TSC1):c.2011A>G (p.Ser671Gly) rs1475481061
NM_000368.5(TSC1):c.2012G>T (p.Ser671Ile) rs1845546239
NM_000368.5(TSC1):c.2013C>A (p.Ser671Arg) rs1845545985
NM_000368.5(TSC1):c.2016G>A (p.Lys672=) rs748487106
NM_000368.5(TSC1):c.2018C>G (p.Ser673Cys) rs774835995
NM_000368.5(TSC1):c.201A>C (p.Pro67=) rs371555137
NM_000368.5(TSC1):c.2020G>A (p.Val674Ile) rs1845544758
NM_000368.5(TSC1):c.2021T>C (p.Val674Ala)
NM_000368.5(TSC1):c.2021T>G (p.Val674Gly) rs1588305911
NM_000368.5(TSC1):c.2022C>A (p.Val674=) rs118203618
NM_000368.5(TSC1):c.2022C>G (p.Val674=) rs118203618
NM_000368.5(TSC1):c.2022C>T (p.Val674=) rs118203618
NM_000368.5(TSC1):c.2022del (p.Asp675fs) rs118203619
NM_000368.5(TSC1):c.2023G>A (p.Asp675Asn) rs768189353
NM_000368.5(TSC1):c.2023G>T (p.Asp675Tyr) rs768189353
NM_000368.5(TSC1):c.2025C>A (p.Asp675Glu)
NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter) rs1554815454
NM_000368.5(TSC1):c.2028G>A (p.Trp676Ter) rs118203621
NM_000368.5(TSC1):c.2031C>A (p.Thr677=) rs1060504855
NM_000368.5(TSC1):c.2031C>T (p.Thr677=) rs1060504855
NM_000368.5(TSC1):c.2033A>G (p.His678Arg) rs745413532
NM_000368.5(TSC1):c.2033del (p.His678fs) rs2131786544
NM_000368.5(TSC1):c.2034C>G (p.His678Gln) rs201392975
NM_000368.5(TSC1):c.2037T>C (p.Phe679=)
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu) rs118203623
NM_000368.5(TSC1):c.2039_2041+1del rs2131785934
NM_000368.5(TSC1):c.2039del (p.Gly680fs) rs2131786241
NM_000368.5(TSC1):c.2040A>C (p.Gly680=) rs2131786060
NM_000368.5(TSC1):c.2041+11T>C
NM_000368.5(TSC1):c.2041+12A>T
NM_000368.5(TSC1):c.2041+13C>T rs1288259134
NM_000368.5(TSC1):c.2041+15T>C
NM_000368.5(TSC1):c.2041+15T>G
NM_000368.5(TSC1):c.2041+16T>C rs754045538
NM_000368.5(TSC1):c.2041+17A>G rs2131785386
NM_000368.5(TSC1):c.2041+1G>A rs397514842
NM_000368.5(TSC1):c.2041+240_2392-319del
NM_000368.5(TSC1):c.2041+5A>C
NM_000368.5(TSC1):c.2041+5del rs1564479424
NM_000368.5(TSC1):c.2041+6G>A rs1845540881
NM_000368.5(TSC1):c.2041+6_2041+7dup rs1845540759
NM_000368.5(TSC1):c.2041+7T>C
NM_000368.5(TSC1):c.2042-10T>A rs1845512917
NM_000368.5(TSC1):c.2042-12C>T
NM_000368.5(TSC1):c.2042-14dup rs1845513047
NM_000368.5(TSC1):c.2042-15C>T
NM_000368.5(TSC1):c.2042-177_2266del
NM_000368.5(TSC1):c.2042-19C>T
NM_000368.5(TSC1):c.2042-5A>G rs118203627
NM_000368.5(TSC1):c.2042-5A>T rs118203627
NM_000368.5(TSC1):c.2042-7C>T rs2131775341
NM_000368.5(TSC1):c.2042-8A>G rs1845512785
NM_000368.5(TSC1):c.2042-9T>C
NM_000368.5(TSC1):c.2042-9del rs2131775434
NM_000368.5(TSC1):c.2045C>G (p.Ser682Cys) rs919177189
NM_000368.5(TSC1):c.2045C>T (p.Ser682Phe)
NM_000368.5(TSC1):c.2046_2050del (p.Pro683fs) rs2131774414
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del) rs397514799
NM_000368.5(TSC1):c.2048C>T (p.Pro683Leu) rs1413960643
NM_000368.5(TSC1):c.2050C>T (p.Pro684Ser) rs746909024
NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg) rs1845511359
NM_000368.5(TSC1):c.2052_2054del (p.Ser685del) rs2131774168
NM_000368.5(TSC1):c.2055A>G (p.Ser685=)
NM_000368.5(TSC1):c.2056G>A (p.Asp686Asn) rs1406756346
NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly) rs786201465
NM_000368.5(TSC1):c.2063_2078del (p.Ile688fs)
NM_000368.5(TSC1):c.2064C>A (p.Ile688=) rs878853963
NM_000368.5(TSC1):c.2064C>G (p.Ile688Met)
NM_000368.5(TSC1):c.2065dup (p.Arg689fs) rs2131773288
NM_000368.5(TSC1):c.2066G>C (p.Arg689Pro) rs200827913
NM_000368.5(TSC1):c.2066G>T (p.Arg689Leu) rs200827913
NM_000368.5(TSC1):c.2068A>G (p.Thr690Ala) rs752473063
NM_000368.5(TSC1):c.2069C>T (p.Thr690Ile) rs1845509575
NM_000368.5(TSC1):c.206A>G (p.Asp69Gly) rs1846914861
NM_000368.5(TSC1):c.2070C>T (p.Thr690=) rs780223819
NM_000368.5(TSC1):c.2071C>G (p.Leu691Val) rs1554815343
NM_000368.5(TSC1):c.2071C>T (p.Leu691Phe) rs1554815343
NM_000368.5(TSC1):c.2072T>A (p.Leu691His) rs876658244
NM_000368.5(TSC1):c.2072T>C (p.Leu691Pro) rs876658244
NM_000368.5(TSC1):c.2072T>G (p.Leu691Arg)
NM_000368.5(TSC1):c.2073C>T (p.Leu691=) rs2131772489
NM_000368.5(TSC1):c.2073_2074delinsTT (p.Arg692Ter)
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2075G>C (p.Arg692Pro) rs199755731
NM_000368.5(TSC1):c.2075G>T (p.Arg692Leu)
NM_000368.5(TSC1):c.2077G>A (p.Asp693Asn)
NM_000368.5(TSC1):c.2077G>T (p.Asp693Tyr) rs397514800
NM_000368.5(TSC1):c.2077_2078dup (p.Asp693fs)
NM_000368.5(TSC1):c.2078_2082del (p.Asp693fs)
NM_000368.5(TSC1):c.2080C>A (p.Gln694Lys) rs397514789
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter) rs397514789
NM_000368.5(TSC1):c.2081del (p.Gln694fs)
NM_000368.5(TSC1):c.2082G>A (p.Gln694=) rs2131771543
NM_000368.5(TSC1):c.2082G>T (p.Gln694His) rs2131771543
NM_000368.5(TSC1):c.2083T>C (p.Leu695=) rs2131771425
NM_000368.5(TSC1):c.2083T>G (p.Leu695Val)
NM_000368.5(TSC1):c.2086C>A (p.Leu696Ile) rs1845506304
NM_000368.5(TSC1):c.2086C>T (p.Leu696Phe) rs1845506304
NM_000368.5(TSC1):c.208A>G (p.Lys70Glu) rs876658838
NM_000368.5(TSC1):c.2090del (p.Leu697fs) rs118203633
NM_000368.5(TSC1):c.2094G>A (p.Leu698=) rs2131770442
NM_000368.5(TSC1):c.2094G>T (p.Leu698=)
NM_000368.5(TSC1):c.2095C>T (p.His699Tyr) rs1845505547
NM_000368.5(TSC1):c.2096A>G (p.His699Arg) rs1845505398
NM_000368.5(TSC1):c.2096del (p.His699fs)
NM_000368.5(TSC1):c.2097C>A (p.His699Gln) rs1554815319
NM_000368.5(TSC1):c.2099A>G (p.Asn700Ser) rs1845504712
NM_000368.5(TSC1):c.210+11A>C
NM_000368.5(TSC1):c.210+12A>G rs764911510
NM_000368.5(TSC1):c.210+15A>G rs2132264232
NM_000368.5(TSC1):c.210+16T>G rs1057522568
NM_000368.5(TSC1):c.210+1G>T
NM_000368.5(TSC1):c.210+7G>T rs2132264554
NM_000368.5(TSC1):c.2100C>T (p.Asn700=)
NM_000368.5(TSC1):c.2101C>T (p.Gln701Ter) rs1845504382
NM_000368.5(TSC1):c.2103G>A (p.Gln701=) rs118203639
NM_000368.5(TSC1):c.2103_2106dup (p.Leu703fs) rs118203638
NM_000368.5(TSC1):c.2105_2106insCT (p.Leu702fs) rs1564478705
NM_000368.5(TSC1):c.2105_2108dup (p.Tyr704fs)
NM_000368.5(TSC1):c.2106dup (p.Leu703fs) rs397514838
NM_000368.5(TSC1):c.2109C>G (p.Leu703=) rs1440846632
NM_000368.5(TSC1):c.210G>A (p.Lys70=) rs1060503219
NM_000368.5(TSC1):c.210G>C (p.Lys70Asn) rs1060503219
NM_000368.5(TSC1):c.211-10del rs1060504859
NM_000368.5(TSC1):c.211-11dup rs397514775
NM_000368.5(TSC1):c.211-12T>C
NM_000368.5(TSC1):c.211-16T>A rs118203351
NM_000368.5(TSC1):c.211-17T>C rs573140264
NM_000368.5(TSC1):c.211-18_211-10dup rs2132240395
NM_000368.5(TSC1):c.211-19T>C rs2132240965
NM_000368.5(TSC1):c.211-19dup
NM_000368.5(TSC1):c.211-1G>A rs118203353
NM_000368.5(TSC1):c.211-1G>T rs118203353
NM_000368.5(TSC1):c.211-2A>C rs118203352
NM_000368.5(TSC1):c.211-2A>G
NM_000368.5(TSC1):c.211-3C>A
NM_000368.5(TSC1):c.211-3C>T rs1564501920
NM_000368.5(TSC1):c.211-4T>G rs2132240125
NM_000368.5(TSC1):c.211-8A>C
NM_000368.5(TSC1):c.211-8A>T
NM_000368.5(TSC1):c.2110T>A (p.Tyr704Asn) rs2131767728
NM_000368.5(TSC1):c.2111A>C (p.Tyr704Ser) rs752054698
NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys) rs752054698
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer) rs118203645
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter) rs118203646
NM_000368.5(TSC1):c.2112T>G (p.Tyr704Ter) rs118203646
NM_000368.5(TSC1):c.2112_2125del (p.Tyr704_Arg709delinsTer)
NM_000368.5(TSC1):c.2116C>A (p.Arg706Ser) rs1588304163
NM_000368.5(TSC1):c.2116C>T (p.Arg706Cys) rs1588304163
NM_000368.5(TSC1):c.2117G>A (p.Arg706His) rs1588304158
NM_000368.5(TSC1):c.2117G>C (p.Arg706Pro) rs1588304158
NM_000368.5(TSC1):c.2118T>C (p.Arg706=) rs2131766639
NM_000368.5(TSC1):c.2119T>C (p.Phe707Leu) rs1845501093
NM_000368.5(TSC1):c.2122A>C (p.Lys708Gln) rs1845500801
NM_000368.5(TSC1):c.2122A>T (p.Lys708Ter)
NM_000368.5(TSC1):c.2123dup (p.Arg709fs)
NM_000368.5(TSC1):c.2126G>A (p.Arg709Lys)
NM_000368.5(TSC1):c.2127G>A (p.Arg709=)
NM_000368.5(TSC1):c.2127del (p.Arg709fs)
NM_000368.5(TSC1):c.2129_2132dup (p.His712fs)
NM_000368.5(TSC1):c.212A>G (p.His71Arg) rs1588355896
NM_000368.5(TSC1):c.2130dup (p.Gln711fs) rs2131765460
NM_000368.5(TSC1):c.2131C>A (p.Gln711Lys) rs118203647
NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter) rs118203647
NM_000368.5(TSC1):c.2136T>C (p.His712=) rs1554815286
NM_000368.5(TSC1):c.2138C>G (p.Ala713Gly)
NM_000368.5(TSC1):c.2138C>T (p.Ala713Val) rs1286421874
NM_000368.5(TSC1):c.213C>T (p.His71=)
NM_000368.5(TSC1):c.2140del (p.Leu714fs)
NM_000368.5(TSC1):c.2140dup (p.Leu714fs)
NM_000368.5(TSC1):c.2141T>A (p.Leu714His) rs1438737976
NM_000368.5(TSC1):c.2141del (p.Leu714fs) rs2131764067
NM_000368.5(TSC1):c.2143C>G (p.Arg715Gly) rs1564478519
NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp) rs1564478519
NM_000368.5(TSC1):c.2144G>C (p.Arg715Pro)
NM_000368.5(TSC1):c.2145G>T (p.Arg715=) rs1379334013
NM_000368.5(TSC1):c.2145del (p.Asn716fs) rs118203650
NM_000368.5(TSC1):c.2146A>C (p.Asn716His) rs2131763292
NM_000368.5(TSC1):c.2147A>G (p.Asn716Ser) rs2131763158
NM_000368.5(TSC1):c.2148C>T (p.Asn716=) rs1554815274
NM_000368.5(TSC1):c.2149A>C (p.Arg717=) rs1057523194
NM_000368.5(TSC1):c.214C>G (p.Leu72Val) rs759183842
NM_000368.5(TSC1):c.214C>T (p.Leu72Phe) rs759183842
NM_000368.5(TSC1):c.2151G>A (p.Arg717=) rs1301689988
NM_000368.5(TSC1):c.2152C>T (p.Arg718Trp) rs1445358121
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln) rs1060503207
NM_000368.5(TSC1):c.2156T>C (p.Leu719Pro) rs2131761805
NM_000368.5(TSC1):c.2156TCC[1] (p.Leu720del)
NM_000368.5(TSC1):c.2157C>T (p.Leu719=) rs1472557024
NM_000368.5(TSC1):c.2158C>T (p.Leu720Phe) rs2131761582
NM_000368.5(TSC1):c.2159del (p.Leu720fs) rs1845497321
NM_000368.5(TSC1):c.215T>A (p.Leu72His)
NM_000368.5(TSC1):c.2161C>G (p.Arg721Gly) rs763357144
NM_000368.5(TSC1):c.2161C>T (p.Arg721Cys) rs763357144
NM_000368.5(TSC1):c.2162G>A (p.Arg721His) rs769566267
NM_000368.5(TSC1):c.2162G>C (p.Arg721Pro) rs769566267
NM_000368.5(TSC1):c.2162G>T (p.Arg721Leu) rs769566267
NM_000368.5(TSC1):c.2165A>G (p.Lys722Arg) rs2131760538
NM_000368.5(TSC1):c.2165del (p.Lys722fs) rs1060503213
NM_000368.5(TSC1):c.2167G>T (p.Val723Leu) rs2131760345
NM_000368.5(TSC1):c.2167del (p.Lys722_Val723insTer) rs2131760465
NM_000368.5(TSC1):c.2169G>A (p.Val723=) rs2131760066
NM_000368.5(TSC1):c.2171T>C (p.Ile724Thr) rs796053459
NM_000368.5(TSC1):c.2173A>G (p.Lys725Glu)
NM_000368.5(TSC1):c.2174A>G (p.Lys725Arg)
NM_000368.5(TSC1):c.2177_2180dup (p.Ala728fs) rs1554815246
NM_000368.5(TSC1):c.2178A>G (p.Ala726=) rs1588303718
NM_000368.5(TSC1):c.217T>C (p.Leu73=) rs2132239282
NM_000368.5(TSC1):c.2181A>C (p.Ala727=) rs1588303703
NM_000368.5(TSC1):c.2181A>G (p.Ala727=) rs1588303703
NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr) rs1845494587
NM_000368.5(TSC1):c.2182G>T (p.Ala728Ser) rs1845494587
NM_000368.5(TSC1):c.2183C>T (p.Ala728Val) rs1564478337
NM_000368.5(TSC1):c.2187G>A (p.Leu729=)
NM_000368.5(TSC1):c.218T>A (p.Leu73Ter) rs1846822085
NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter) rs397514820
NM_000368.5(TSC1):c.2192A>C (p.Glu731Ala)
NM_000368.5(TSC1):c.2195A>G (p.His732Arg) rs878853964
NM_000368.5(TSC1):c.2196T>G (p.His732Gln)
NM_000368.5(TSC1):c.2197A>C (p.Asn733His)
NM_000368.5(TSC1):c.2198A>C (p.Asn733Thr) rs1564478277
NM_000368.5(TSC1):c.2198A>G (p.Asn733Ser) rs1564478277
NM_000368.5(TSC1):c.219G>A (p.Leu73=) rs1588355863
NM_000368.5(TSC1):c.21C>A (p.Val7=) rs145987906
NM_000368.5(TSC1):c.21C>G (p.Val7=) rs145987906
NM_000368.5(TSC1):c.21C>T (p.Val7=) rs145987906
NM_000368.5(TSC1):c.2202T>C (p.Ala734=)
NM_000368.5(TSC1):c.2206A>T (p.Met736Leu) rs2131756215
NM_000368.5(TSC1):c.2208+10G>A
NM_000368.5(TSC1):c.2208+10G>T rs945077563
NM_000368.5(TSC1):c.2208+12_2208+29del
NM_000368.5(TSC1):c.2208+13G>T rs2131755645
NM_000368.5(TSC1):c.2208+15G>A
NM_000368.5(TSC1):c.2208+16G>A
NM_000368.5(TSC1):c.2208+17G>A rs1057523691
NM_000368.5(TSC1):c.2208+18G>T
NM_000368.5(TSC1):c.2208+20C>A
NM_000368.5(TSC1):c.2208+20C>G rs771950290
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.2208+7A>C
NM_000368.5(TSC1):c.2208+8C>A rs2131755863
NM_000368.5(TSC1):c.2208+9T>G rs2131755820
NM_000368.5(TSC1):c.2209-10T>G rs2131742414
NM_000368.5(TSC1):c.2209-11G>A rs1388387332
NM_000368.5(TSC1):c.2209-11G>T rs1388387332
NM_000368.5(TSC1):c.2209-17T>C
NM_000368.5(TSC1):c.2209-18A>G
NM_000368.5(TSC1):c.2209-19C>T rs2131742633
NM_000368.5(TSC1):c.2209-20A>G rs2131742694
NM_000368.5(TSC1):c.2209-258_2502+101del
NM_000368.5(TSC1):c.2209-5G>C rs1588302154
NM_000368.5(TSC1):c.2209-7C>T
NM_000368.5(TSC1):c.2209A>G (p.Lys737Glu) rs1588302128
NM_000368.5(TSC1):c.220G>A (p.Asp74Asn) rs2132238980
NM_000368.5(TSC1):c.220G>C (p.Asp74His)
NM_000368.5(TSC1):c.2210A>T (p.Lys737Ile)
NM_000368.5(TSC1):c.2212_2213dup (p.Asp738fs) rs2131741904
NM_000368.5(TSC1):c.2213A>G (p.Asp738Gly)
NM_000368.5(TSC1):c.2213A>T (p.Asp738Val) rs1350928783
NM_000368.5(TSC1):c.2213_2214insGACCAGTCTTTTGTAAC (p.Asp738delinsGluThrSerLeuLeuTer)
NM_000368.5(TSC1):c.2215C>G (p.Gln739Glu)
NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter) rs1554815054
NM_000368.5(TSC1):c.2217G>A (p.Gln739=) rs1186305034
NM_000368.5(TSC1):c.2218T>C (p.Leu740=) rs2131741485
NM_000368.5(TSC1):c.221A>G (p.Asp74Gly) rs1846821741
NM_000368.5(TSC1):c.2220G>A (p.Leu740=) rs1588302073
NM_000368.5(TSC1):c.2221A>C (p.Lys741Gln) rs587778723
NM_000368.5(TSC1):c.2222A>C (p.Lys741Thr) rs1588302047
NM_000368.5(TSC1):c.2223G>A (p.Lys741=) rs1588302038
NM_000368.5(TSC1):c.2225T>C (p.Leu742Ser) rs1060503201
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter) rs118203661
NM_000368.5(TSC1):c.2229A>G (p.Gln743=)
NM_000368.5(TSC1):c.222C>G (p.Asp74Glu)
NM_000368.5(TSC1):c.222C>T (p.Asp74=) rs1846821570
NM_000368.5(TSC1):c.2231A>G (p.Glu744Gly)
NM_000368.5(TSC1):c.2231_2235del (p.Glu744fs) rs1554815049
NM_000368.5(TSC1):c.2234A>G (p.Lys745Arg)
NM_000368.5(TSC1):c.2235G>A (p.Lys745=) rs753265422
NM_000368.5(TSC1):c.2235G>C (p.Lys745Asn) rs753265422
NM_000368.5(TSC1):c.2235G>T (p.Lys745Asn) rs753265422
NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr) rs786203007
NM_000368.5(TSC1):c.2238C>T (p.Asp746=)
NM_000368.5(TSC1):c.2239A>G (p.Ile747Val) rs1564477496
NM_000368.5(TSC1):c.2239dup (p.Ile747fs)
NM_000368.5(TSC1):c.2240T>C (p.Ile747Thr)
NM_000368.5(TSC1):c.2241_2242del (p.Gln748fs) rs2131739882
NM_000368.5(TSC1):c.2242C>T (p.Gln748Ter) rs1588301951
NM_000368.5(TSC1):c.2242del (p.Gln748fs)
NM_000368.5(TSC1):c.2244G>C (p.Gln748His) rs1588301930
NM_000368.5(TSC1):c.2247G>T (p.Met749Ile)
NM_000368.5(TSC1):c.2248_2249dup (p.Trp750fs) rs1845453970
NM_000368.5(TSC1):c.2250G>A (p.Trp750Ter) rs118203663
NM_000368.5(TSC1):c.2251A>C (p.Lys751Gln) rs1845453569
NM_000368.5(TSC1):c.2252A>G (p.Lys751Arg)
NM_000368.5(TSC1):c.2253G>T (p.Lys751Asn) rs1845453410
NM_000368.5(TSC1):c.2254G>A (p.Val752Ile) rs765643529
NM_000368.5(TSC1):c.2254G>C (p.Val752Leu)
NM_000368.5(TSC1):c.2257dup (p.Ser753fs)
NM_000368.5(TSC1):c.225del (p.Ile76fs)
NM_000368.5(TSC1):c.2260C>T (p.Leu754=) rs118203664
NM_000368.5(TSC1):c.2262G>A (p.Leu754=)
NM_000368.5(TSC1):c.2262G>C (p.Leu754=) rs1845452852
NM_000368.5(TSC1):c.2263C>T (p.Gln755Ter) rs1845452711
NM_000368.5(TSC1):c.2265_2266del (p.Lys756fs)
NM_000368.5(TSC1):c.2268_2271del (p.Lys756fs) rs118203665
NM_000368.5(TSC1):c.2269G>C (p.Glu757Gln) rs1057519319
NM_000368.5(TSC1):c.2269G>T (p.Glu757Ter) rs1057519319
NM_000368.5(TSC1):c.2270A>T (p.Glu757Val) rs1845452248
NM_000368.5(TSC1):c.2271_2280del (p.Glu757fs)
NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys) rs397514783
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.5(TSC1):c.2275G>A (p.Ala759Thr) rs1060503199
NM_000368.5(TSC1):c.2276C>T (p.Ala759Val) rs1554815021
NM_000368.5(TSC1):c.2277T>C (p.Ala759=)
NM_000368.5(TSC1):c.227T>A (p.Ile76Asn) rs118203355
NM_000368.5(TSC1):c.2282A>G (p.Tyr761Cys) rs1554815018
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter) rs118203668
NM_000368.5(TSC1):c.2283C>T (p.Tyr761=)
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp) rs1264839312
NM_000368.5(TSC1):c.2285del (p.Asn762fs)
NM_000368.5(TSC1):c.2286T>A (p.Asn762Lys) rs1554815010
NM_000368.5(TSC1):c.2286T>C (p.Asn762=) rs1554815010
NM_000368.5(TSC1):c.2287C>G (p.Gln763Glu) rs118203671
NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter) rs118203671
NM_000368.5(TSC1):c.228_235del (p.Asn77fs)
NM_000368.5(TSC1):c.2290C>T (p.Leu764Phe)
NM_000368.5(TSC1):c.2292C>G (p.Leu764=) rs2131735763
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter) rs118203673
NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu) rs118203675
NM_000368.5(TSC1):c.229A>G (p.Asn77Asp) rs2132238313
NM_000368.5(TSC1):c.2300A>C (p.Gln767Pro) rs1845449144
NM_000368.5(TSC1):c.2300A>G (p.Gln767Arg) rs1845449144
NM_000368.5(TSC1):c.2301G>T (p.Gln767His) rs1845448996
NM_000368.5(TSC1):c.2302C>T (p.Arg768Cys) rs1588301564
NM_000368.5(TSC1):c.2304dup (p.Asp769Ter) rs2131734694
NM_000368.5(TSC1):c.2311A>G (p.Met771Val) rs1057522203
NM_000368.5(TSC1):c.2311_2312del (p.Met771fs)
NM_000368.5(TSC1):c.2314G>A (p.Val772Ile) rs1468880078
NM_000368.5(TSC1):c.2314G>C (p.Val772Leu)
NM_000368.5(TSC1):c.2314G>T (p.Val772Leu)
NM_000368.5(TSC1):c.2314del (p.Met771_Val772insTer)
NM_000368.5(TSC1):c.2317A>G (p.Thr773Ala)
NM_000368.5(TSC1):c.2317_2318delinsCA (p.Thr773His) rs1060503202
NM_000368.5(TSC1):c.2321A>C (p.Lys774Thr) rs2131733177
NM_000368.5(TSC1):c.2326C>A (p.His776Asn)
NM_000368.5(TSC1):c.2327A>G (p.His776Arg)
NM_000368.5(TSC1):c.2329A>G (p.Ser777Gly) rs1554814968
NM_000368.5(TSC1):c.232G>C (p.Glu78Gln) rs1588355838
NM_000368.5(TSC1):c.232G>T (p.Glu78Ter) rs1588355838
NM_000368.5(TSC1):c.2331C>G (p.Ser777Arg) rs1554814967
NM_000368.5(TSC1):c.2332C>A (p.Gln778Lys)
NM_000368.5(TSC1):c.2333A>T (p.Gln778Leu) rs1845445850
NM_000368.5(TSC1):c.2335A>C (p.Ile779Leu)
NM_000368.5(TSC1):c.2335A>G (p.Ile779Val) rs1845445721
NM_000368.5(TSC1):c.2337C>G (p.Ile779Met)
NM_000368.5(TSC1):c.2337C>T (p.Ile779=)
NM_000368.5(TSC1):c.2338A>T (p.Arg780Ter) rs1564477162
NM_000368.5(TSC1):c.2339G>A (p.Arg780Lys) rs1845445479
NM_000368.5(TSC1):c.2340_2343del (p.Arg780fs) rs1588301374
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter) rs118203680
NM_000368.5(TSC1):c.2341_2360dup (p.Glu787fs) rs1554814935
NM_000368.5(TSC1):c.2342_2343insAA (p.Leu782fs) rs397514855
NM_000368.5(TSC1):c.2343G>A (p.Gln781=) rs2131731368
NM_000368.5(TSC1):c.2344C>G (p.Leu782Val)
NM_000368.5(TSC1):c.2345T>A (p.Leu782Gln) rs1845444954
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter) rs118203681
NM_000368.5(TSC1):c.2349G>A (p.Gln783=)
NM_000368.5(TSC1):c.2350C>T (p.His784Tyr)
NM_000368.5(TSC1):c.2354A>G (p.Asp785Gly) rs2131730508
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.2356del (p.Arg786fs)
NM_000368.5(TSC1):c.2357G>T (p.Arg786Leu)
NM_000368.5(TSC1):c.2359G>A (p.Glu787Lys) rs1564477097
NM_000368.5(TSC1):c.235T>C (p.Tyr79His) rs1846820628
NM_000368.5(TSC1):c.2360del (p.Glu787fs) rs1588301269
NM_000368.5(TSC1):c.2361G>A (p.Glu787=)
NM_000368.5(TSC1):c.2361G>C (p.Glu787Asp) rs1564477079
NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter) rs118203685
NM_000368.5(TSC1):c.2364A>G (p.Glu788=) rs1588301218
NM_000368.5(TSC1):c.2364A>T (p.Glu788Asp)
NM_000368.5(TSC1):c.236A>G (p.Tyr79Cys) rs373855276
NM_000368.5(TSC1):c.2370C>T (p.Tyr790=) rs1845442273
NM_000368.5(TSC1):c.2373C>T (p.Asn791=)
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg) rs796053460
NM_000368.5(TSC1):c.2378G>A (p.Ser793Asn) rs2131728548
NM_000368.5(TSC1):c.237T>C (p.Tyr79=) rs761596603
NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys) rs781371665
NM_000368.5(TSC1):c.2380C>T (p.Gln794Ter) rs781371665
NM_000368.5(TSC1):c.2389C>A (p.Gln797Lys) rs397514862
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.5(TSC1):c.238G>A (p.Val80Met) rs1588355807
NM_000368.5(TSC1):c.238del (p.Val80fs)
NM_000368.5(TSC1):c.2390A>G (p.Gln797Arg)
NM_000368.5(TSC1):c.2390A>T (p.Gln797Leu) rs2131727903
NM_000368.5(TSC1):c.2391+10G>T rs2131727428
NM_000368.5(TSC1):c.2391+11C>T
NM_000368.5(TSC1):c.2391+12A>C rs2131727338
NM_000368.5(TSC1):c.2391+12A>G rs2131727338
NM_000368.5(TSC1):c.2391+13G>A
NM_000368.5(TSC1):c.2391+16C>A
NM_000368.5(TSC1):c.2391+16C>T rs377005728
NM_000368.5(TSC1):c.2391+19G>A
NM_000368.5(TSC1):c.2391+1G>A rs1060503224
NM_000368.5(TSC1):c.2391+1G>C rs1060503224
NM_000368.5(TSC1):c.2391+1G>T
NM_000368.5(TSC1):c.2391+8C>T rs1554814904
NM_000368.5(TSC1):c.2391+9T>G rs1564476986
NM_000368.5(TSC1):c.2391G>T (p.Gln797His)
NM_000368.5(TSC1):c.2392-10C>G rs2131711171
NM_000368.5(TSC1):c.2392-12C>G rs1845382479
NM_000368.5(TSC1):c.2392-13T>A
NM_000368.5(TSC1):c.2392-15C>G
NM_000368.5(TSC1):c.2392-15C>T
NM_000368.5(TSC1):c.2392-16A>T
NM_000368.5(TSC1):c.2392-17C>T rs2131711576
NM_000368.5(TSC1):c.2392-1G>C
NM_000368.5(TSC1):c.2392-1del rs2131710574
NM_000368.5(TSC1):c.2392-20G>A
NM_000368.5(TSC1):c.2392-3C>T rs561093328
NM_000368.5(TSC1):c.2392-5G>A rs1463016849
NM_000368.5(TSC1):c.2392-6G>A
NM_000368.5(TSC1):c.2392-6_2398del
NM_000368.5(TSC1):c.2392-7T>C rs1554814693
NM_000368.5(TSC1):c.2392-8T>C rs1255802643
NM_000368.5(TSC1):c.2392-8_2392-7del rs1554814696
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met) rs1331635112
NM_000368.5(TSC1):c.2397G>A (p.Lys799=)
NM_000368.5(TSC1):c.2398C>T (p.Leu800=) rs2131709896
NM_000368.5(TSC1):c.239T>C (p.Val80Ala)
NM_000368.5(TSC1):c.23G>A (p.Gly8Glu) rs1269896419
NM_000368.5(TSC1):c.23G>T (p.Gly8Val) rs1269896419
NM_000368.5(TSC1):c.2400G>A (p.Leu800=) rs2131709742
NM_000368.5(TSC1):c.2400G>C (p.Leu800=)
NM_000368.5(TSC1):c.2402A>G (p.Glu801Gly)
NM_000368.5(TSC1):c.2405dup (p.Asp802fs)
NM_000368.5(TSC1):c.2412G>A (p.Arg804=) rs1554814676
NM_000368.5(TSC1):c.2413A>G (p.Asn805Asp) rs1845380748
NM_000368.5(TSC1):c.2416A>G (p.Met806Val) rs1845380611
NM_000368.5(TSC1):c.2417T>C (p.Met806Thr) rs2131708510
NM_000368.5(TSC1):c.2419A>G (p.Ile807Val) rs2131708365
NM_000368.5(TSC1):c.2419_2420dup (p.Ala808fs)
NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr) rs118203690
NM_000368.5(TSC1):c.2421T>A (p.Ile807=) rs754248661
NM_000368.5(TSC1):c.2424G>T (p.Ala808=) rs200651872
NM_000368.5(TSC1):c.2425G>A (p.Glu809Lys) rs118203692
NM_000368.5(TSC1):c.2427G>A (p.Glu809=) rs2131707778
NM_000368.5(TSC1):c.2428C>G (p.Leu810Val)
NM_000368.5(TSC1):c.2429T>G (p.Leu810Arg)
NM_000368.5(TSC1):c.2430G>A (p.Leu810=) rs2131707611
NM_000368.5(TSC1):c.2431C>G (p.Arg811Gly) rs397514814
NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp) rs397514814
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln) rs761281095
NM_000368.5(TSC1):c.2435T>C (p.Ile812Thr)
NM_000368.5(TSC1):c.2436A>G (p.Ile812Met)
NM_000368.5(TSC1):c.2438A>G (p.Glu813Gly) rs1554814657
NM_000368.5(TSC1):c.243C>T (p.Gly81=) rs1588355789
NM_000368.5(TSC1):c.2440C>T (p.Leu814=) rs199517042
NM_000368.5(TSC1):c.2440del (p.Glu813_Leu814insTer) rs1588299201
NM_000368.5(TSC1):c.2442G>A (p.Leu814=) rs2131706727
NM_000368.5(TSC1):c.2443AAG[1] (p.Lys816del) rs1564476060
NM_000368.5(TSC1):c.2444A>C (p.Lys815Thr) rs1588299170
NM_000368.5(TSC1):c.2445G>C (p.Lys815Asn) rs1845377926
NM_000368.5(TSC1):c.2446_2447delinsGC (p.Lys816Ala)
NM_000368.5(TSC1):c.2448G>A (p.Lys816=) rs1588299142
NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser) rs1554814652
NM_000368.5(TSC1):c.2450C>T (p.Ala817Val) rs1845377267
NM_000368.5(TSC1):c.2451CAA[2] (p.Asn819del) rs1588299112
NM_000368.5(TSC1):c.2452A>G (p.Asn818Asp)
NM_000368.5(TSC1):c.2453del (p.Asn818fs)
NM_000368.5(TSC1):c.2454C>A (p.Asn818Lys) rs1014587956
NM_000368.5(TSC1):c.2454C>G (p.Asn818Lys) rs1014587956
NM_000368.5(TSC1):c.2455A>G (p.Asn819Asp)
NM_000368.5(TSC1):c.2457C>T (p.Asn819=) rs1471536624
NM_000368.5(TSC1):c.2458A>G (p.Lys820Glu) rs1845376841
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg) rs1369700443
NM_000368.5(TSC1):c.2461G>A (p.Val821Met) rs1845376276
NM_000368.5(TSC1):c.2461G>C (p.Val821Leu)
NM_000368.5(TSC1):c.2461_2463del (p.Val821del)
NM_000368.5(TSC1):c.2463G>A (p.Val821=) rs764014190
NM_000368.5(TSC1):c.2463G>C (p.Val821=) rs764014190
NM_000368.5(TSC1):c.2463_2466del (p.Cys822fs)
NM_000368.5(TSC1):c.2467C>G (p.His823Asp)
NM_000368.5(TSC1):c.2469C>T (p.His823=)
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala) rs1554814639
NM_000368.5(TSC1):c.2470_2471del (p.His823_Thr824insTer) rs118203697
NM_000368.5(TSC1):c.2470_2479del (p.Thr824fs)
NM_000368.5(TSC1):c.2471C>A (p.Thr824Asn) rs1845375284
NM_000368.5(TSC1):c.2472T>A (p.Thr824=) rs762811821
NM_000368.5(TSC1):c.2472T>G (p.Thr824=) rs762811821
NM_000368.5(TSC1):c.2474_2478del (p.Glu825fs)
NM_000368.5(TSC1):c.2477_2480dup (p.Leu828fs) rs2131704033
NM_000368.5(TSC1):c.2478G>A (p.Leu826=) rs149719514
NM_000368.5(TSC1):c.247G>A (p.Ala83Thr) rs76667066
NM_000368.5(TSC1):c.247G>C (p.Ala83Pro) rs76667066
NM_000368.5(TSC1):c.2480T>C (p.Leu827Pro) rs1845374191
NM_000368.5(TSC1):c.2484C>T (p.Leu828=)
NM_000368.5(TSC1):c.2486G>A (p.Ser829Asn) rs1202468122
NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter) rs1564475884
NM_000368.5(TSC1):c.248C>A (p.Ala83Asp) rs1588355749
NM_000368.5(TSC1):c.248C>T (p.Ala83Val) rs1588355749
NM_000368.5(TSC1):c.2490G>A (p.Gln830=) rs2131703243
NM_000368.5(TSC1):c.2491G>A (p.Val831Ile) rs773279842
NM_000368.5(TSC1):c.2491G>T (p.Val831Phe) rs773279842
NM_000368.5(TSC1):c.2498_2499inv (p.Gln833Leu)
NM_000368.5(TSC1):c.2499A>G (p.Gln833=) rs1554814615
NM_000368.5(TSC1):c.24G>C (p.Gly8=)
NM_000368.5(TSC1):c.24G>T (p.Gly8=) rs2132296659
NM_000368.5(TSC1):c.24_42delinsCAA (p.Glu9fs) rs1554821022
NM_000368.5(TSC1):c.2502+11del
NM_000368.5(TSC1):c.2502+17C>A
NM_000368.5(TSC1):c.2502+1G>A
NM_000368.5(TSC1):c.2502+1G>T
NM_000368.5(TSC1):c.2502+2_2502+9del rs1588298866
NM_000368.5(TSC1):c.2502+8G>T rs2131702325
NM_000368.5(TSC1):c.2502+8_2502+10del rs762882968
NM_000368.5(TSC1):c.2502G>A (p.Lys834=)
NM_000368.5(TSC1):c.2503-10T>A rs2131690157
NM_000368.5(TSC1):c.2503-11T>A rs201568350
NM_000368.5(TSC1):c.2503-11T>G rs201568350
NM_000368.5(TSC1):c.2503-12T>C rs765263617
NM_000368.5(TSC1):c.2503-12T>G rs765263617
NM_000368.5(TSC1):c.2503-14T>C
NM_000368.5(TSC1):c.2503-14T>G
NM_000368.5(TSC1):c.2503-15A>C
NM_000368.5(TSC1):c.2503-16C>A rs763538307
NM_000368.5(TSC1):c.2503-16C>G
NM_000368.5(TSC1):c.2503-16C>T
NM_000368.5(TSC1):c.2503-1G>A
NM_000368.5(TSC1):c.2503-1G>C rs118203705
NM_000368.5(TSC1):c.2503-2A>G rs118203704
NM_000368.5(TSC1):c.2503-3T>C rs1355806067
NM_000368.5(TSC1):c.2503-4T>C rs772414581
NM_000368.5(TSC1):c.2503-7del
NM_000368.5(TSC1):c.2503-8T>C
NM_000368.5(TSC1):c.2503-9T>G rs1845337720
NM_000368.5(TSC1):c.2506T>C (p.Ser836Pro) rs1845336311
NM_000368.5(TSC1):c.2506T>G (p.Ser836Ala)
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter) rs118203706
NM_000368.5(TSC1):c.2508A>C (p.Ser836=) rs1554814456
NM_000368.5(TSC1):c.2508A>G (p.Ser836=) rs1554814456
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.5(TSC1):c.2510dup (p.Asn837fs) rs118203709
NM_000368.5(TSC1):c.2511C>T (p.Asn837=) rs1554814448
NM_000368.5(TSC1):c.2512A>G (p.Ser838Gly) rs1845335475
NM_000368.5(TSC1):c.2513G>A (p.Ser838Asn) rs1060503208
NM_000368.5(TSC1):c.2513G>C (p.Ser838Thr) rs1060503208
NM_000368.5(TSC1):c.2514T>C (p.Ser838=) rs786203259
NM_000368.5(TSC1):c.2515G>A (p.Glu839Lys) rs2131689008
NM_000368.5(TSC1):c.2515_2518del (p.Glu839fs) rs794727320
NM_000368.5(TSC1):c.2517G>A (p.Glu839=) rs1554814437
NM_000368.5(TSC1):c.2520G>C (p.Ser840=) rs547498792
NM_000368.5(TSC1):c.2520G>T (p.Ser840=)
NM_000368.5(TSC1):c.2521G>T (p.Val841Phe) rs1343088775
NM_000368.5(TSC1):c.2523C>T (p.Val841=) rs397514825
NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter) rs1447417010
NM_000368.5(TSC1):c.2532G>A (p.Gln844=) rs2131688269
NM_000368.5(TSC1):c.2538G>A (p.Glu846=)
NM_000368.5(TSC1):c.253A>G (p.Thr85Ala) rs2132236558
NM_000368.5(TSC1):c.2545_2566del (p.Asn849fs) rs1564474974
NM_000368.5(TSC1):c.2547C>A (p.Asn849Lys) rs1554814418
NM_000368.5(TSC1):c.2547C>G (p.Asn849Lys) rs1554814418
NM_000368.5(TSC1):c.2547C>T (p.Asn849=) rs1554814418
NM_000368.5(TSC1):c.2547del (p.Asn849fs) rs2131687967
NM_000368.5(TSC1):c.2548_2554del (p.Arg850fs)
NM_000368.5(TSC1):c.2549G>A (p.Arg850Lys) rs1060503195
NM_000368.5(TSC1):c.2551C>G (p.Gln851Glu) rs1588297391
NM_000368.5(TSC1):c.2551C>T (p.Gln851Ter) rs1588297391
NM_000368.5(TSC1):c.2555T>C (p.Leu852Pro)
NM_000368.5(TSC1):c.2556G>A (p.Leu852=)
NM_000368.5(TSC1):c.2556G>T (p.Leu852=) rs770381040
NM_000368.5(TSC1):c.2556del (p.Leu853fs) rs2131687509
NM_000368.5(TSC1):c.2557T>C (p.Leu853=) rs2131687370
NM_000368.5(TSC1):c.2559_2560insAA (p.Val854fs) rs2131687178
NM_000368.5(TSC1):c.2559_2562del (p.Leu853fs) rs118203711
NM_000368.5(TSC1):c.255T>C (p.Thr85=) rs1060504856
NM_000368.5(TSC1):c.2560G>A (p.Val854Ile)
NM_000368.5(TSC1):c.2564T>C (p.Leu855Pro) rs1845331236
NM_000368.5(TSC1):c.2565T>A (p.Leu855=) rs1845331038
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys) rs1463772907
NM_000368.5(TSC1):c.2572G>A (p.Val858Ile) rs1845329722
NM_000368.5(TSC1):c.2574C>A (p.Val858=) rs1588297282
NM_000368.5(TSC1):c.2576A>G (p.Asn859Ser) rs2131686192
NM_000368.5(TSC1):c.2578G>A (p.Glu860Lys) rs1169898186
NM_000368.5(TSC1):c.2578G>T (p.Glu860Ter)
NM_000368.5(TSC1):c.257G>A (p.Arg86His) rs1846818019
NM_000368.5(TSC1):c.2580G>A (p.Glu860=) rs1845329120
NM_000368.5(TSC1):c.2582del (p.Leu861fs) rs397514865
NM_000368.5(TSC1):c.2583C>A (p.Leu861=)
NM_000368.5(TSC1):c.2587T>C (p.Leu863=)
NM_000368.5(TSC1):c.2588del (p.Leu863fs)
NM_000368.5(TSC1):c.2590G>T (p.Glu864Ter) rs1845328711
NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter) rs886039662
NM_000368.5(TSC1):c.2599C>T (p.Gln867Ter) rs2131685383
NM_000368.5(TSC1):c.25G>A (p.Glu9Lys)
NM_000368.5(TSC1):c.2601G>A (p.Gln867=) rs2131685313
NM_000368.5(TSC1):c.2604C>G (p.Asn868Lys)
NM_000368.5(TSC1):c.2605A>T (p.Lys869Ter) rs1845327789
NM_000368.5(TSC1):c.2606A>G (p.Lys869Arg) rs1588297197
NM_000368.5(TSC1):c.2607G>A (p.Lys869=) rs1845327520
NM_000368.5(TSC1):c.2607G>C (p.Lys869Asn) rs1845327520
NM_000368.5(TSC1):c.2609A>G (p.His870Arg) rs1845327392
NM_000368.5(TSC1):c.260T>G (p.Leu87Ter) rs397514776
NM_000368.5(TSC1):c.2612C>G (p.Ser871Ter) rs1166302175
NM_000368.5(TSC1):c.2612C>T (p.Ser871Leu) rs1166302175
NM_000368.5(TSC1):c.2613A>G (p.Ser871=) rs1031508405
NM_000368.5(TSC1):c.2614G>A (p.Asp872Asn) rs746607455
NM_000368.5(TSC1):c.2618C>A (p.Thr873Asn)
NM_000368.5(TSC1):c.2618C>T (p.Thr873Ile)
NM_000368.5(TSC1):c.261A>G (p.Leu87=) rs1407780510
NM_000368.5(TSC1):c.261dup (p.Ser88fs) rs1588355628
NM_000368.5(TSC1):c.2620A>C (p.Thr874Pro) rs1554814368
NM_000368.5(TSC1):c.2621C>T (p.Thr874Ile) rs2131684508
NM_000368.5(TSC1):c.2622A>G (p.Thr874=) rs2131684460
NM_000368.5(TSC1):c.2625+10G>T
NM_000368.5(TSC1):c.2625+11G>A
NM_000368.5(TSC1):c.2625+14C>G rs757876250
NM_000368.5(TSC1):c.2625+17del
NM_000368.5(TSC1):c.2625+1G>T
NM_000368.5(TSC1):c.2625+20C>G rs2131683620
NM_000368.5(TSC1):c.2625+357_2625+372del rs1845301667
NM_000368.5(TSC1):c.2625+367A>G rs1564474542
NM_000368.5(TSC1):c.2625+367del rs2131679212
NM_000368.5(TSC1):c.2625+3A>G rs1845325976
NM_000368.5(TSC1):c.2625+4T>A rs1588297117
NM_000368.5(TSC1):c.2625+4T>G rs1588297117
NM_000368.5(TSC1):c.2625+7C>T rs2131684063
NM_000368.5(TSC1):c.2625+9G>A
NM_000368.5(TSC1):c.2625+9G>C rs2131684014
NM_000368.5(TSC1):c.2625+9G>T rs2131684014
NM_000368.5(TSC1):c.2625G>T (p.Lys875Asn) rs777437357
NM_000368.5(TSC1):c.2626-10T>G
NM_000368.5(TSC1):c.2626-10_2626-9insG
NM_000368.5(TSC1):c.2626-14_2626-4dup
NM_000368.5(TSC1):c.2626-15_2626-4del
NM_000368.5(TSC1):c.2626-1G>A rs397514847
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-2A>C rs118203717
NM_000368.5(TSC1):c.2626-2A>G rs118203717
NM_000368.5(TSC1):c.2626-3_2626-2insT rs760737807
NM_000368.5(TSC1):c.2626-3_2626-2insTTT rs760737807
NM_000368.5(TSC1):c.2626-3dup rs1554813639
NM_000368.5(TSC1):c.2626-4T>A rs777386691
NM_000368.5(TSC1):c.2626-4_2626-3insTTC
NM_000368.5(TSC1):c.2626-4del rs5901000
NM_000368.5(TSC1):c.2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-5T>G rs1444272064
NM_000368.5(TSC1):c.2626-5_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-6T>C
NM_000368.5(TSC1):c.2626-6_2626-5insTC rs1256355250
NM_000368.5(TSC1):c.2626-8T>C rs1588291364
NM_000368.5(TSC1):c.2626-9T>C rs1588291375
NM_000368.5(TSC1):c.2626-9_2626-8insTG rs1251149647
NM_000368.5(TSC1):c.2626G>A (p.Glu876Lys) rs747602915
NM_000368.5(TSC1):c.2628A>G (p.Glu876=) rs1588291185
NM_000368.5(TSC1):c.2629G>A (p.Val877Ile) rs1321117036
NM_000368.5(TSC1):c.2629G>C (p.Val877Leu)
NM_000368.5(TSC1):c.262T>G (p.Ser88Ala)
NM_000368.5(TSC1):c.2630T>C (p.Val877Ala) rs1564472328
NM_000368.5(TSC1):c.2635A>C (p.Met879Leu) rs778416424
NM_000368.5(TSC1):c.2635A>G (p.Met879Val) rs778416424
NM_000368.5(TSC1):c.2635del (p.Glu878_Met879insTer) rs2131639772
NM_000368.5(TSC1):c.2635dup (p.Met879fs)
NM_000368.5(TSC1):c.2637G>A (p.Met879Ile) rs1554813610
NM_000368.5(TSC1):c.2637G>C (p.Met879Ile) rs1554813610
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile) rs1554813610
NM_000368.5(TSC1):c.2639T>C (p.Met880Thr)
NM_000368.5(TSC1):c.263C>G (p.Ser88Cys) rs1588355606
NM_000368.5(TSC1):c.2640G>A (p.Met880Ile) rs1218889799
NM_000368.5(TSC1):c.2640G>T (p.Met880Ile) rs1218889799
NM_000368.5(TSC1):c.2641A>T (p.Lys881Ter) rs1057520444
NM_000368.5(TSC1):c.2644G>A (p.Ala882Thr) rs1271658593
NM_000368.5(TSC1):c.2645C>G (p.Ala882Gly)
NM_000368.5(TSC1):c.2645C>T (p.Ala882Val) rs1554813594
NM_000368.5(TSC1):c.2646C>A (p.Ala882=)
NM_000368.5(TSC1):c.2649C>G (p.Ala883=) rs1279318276
NM_000368.5(TSC1):c.2649del (p.Tyr884fs)
NM_000368.5(TSC1):c.264C>T (p.Ser88=)
NM_000368.5(TSC1):c.2652T>C (p.Tyr884=)
NM_000368.5(TSC1):c.2652_2664del (p.Ala883_Tyr884insTer)
NM_000368.5(TSC1):c.265A>G (p.Ile89Val) rs1564501798
NM_000368.5(TSC1):c.2662C>T (p.Leu888=)
NM_000368.5(TSC1):c.2664A>G (p.Leu888=) rs2131638076
NM_000368.5(TSC1):c.2665G>A (p.Glu889Lys)
NM_000368.5(TSC1):c.2665_2666delinsAT (p.Glu889Ile) rs587778724
NM_000368.5(TSC1):c.2667A>C (p.Glu889Asp)
NM_000368.5(TSC1):c.2667A>G (p.Glu889=) rs1554813546
NM_000368.5(TSC1):c.2668A>G (p.Lys890Glu) rs543892243
NM_000368.5(TSC1):c.266T>C (p.Ile89Thr) rs1564501791
NM_000368.5(TSC1):c.2671_2672dup (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2671_2674del (p.Asn891fs) rs1845149321
NM_000368.5(TSC1):c.2672A>G (p.Asn891Ser) rs1060503203
NM_000368.5(TSC1):c.2672del (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2672dup (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2674A>G (p.Arg892Gly)
NM_000368.5(TSC1):c.2674A>T (p.Arg892Ter) rs2131637455
NM_000368.5(TSC1):c.2674del (p.Arg892fs) rs2131637518
NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs) rs118203726
NM_000368.5(TSC1):c.2679C>T (p.Ser893=) rs374311456
NM_000368.5(TSC1):c.267C>G (p.Ile89Met) rs1846816338
NM_000368.5(TSC1):c.2680C>T (p.His894Tyr) rs1845148693
NM_000368.5(TSC1):c.2680del (p.His894fs)
NM_000368.5(TSC1):c.2681A>G (p.His894Arg) rs1588290830
NM_000368.5(TSC1):c.2681dup (p.His894fs)
NM_000368.5(TSC1):c.2682T>C (p.His894=) rs771479673
NM_000368.5(TSC1):c.2683G>A (p.Val895Ile) rs576476807
NM_000368.5(TSC1):c.2684T>C (p.Val895Ala) rs1845148114
NM_000368.5(TSC1):c.2686C>A (p.Leu896Ile) rs377132822
NM_000368.5(TSC1):c.2686C>T (p.Leu896Phe) rs377132822
NM_000368.5(TSC1):c.2688C>G (p.Leu896=) rs2131636756
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.5(TSC1):c.268C>T (p.Leu90Phe) rs2132235523
NM_000368.5(TSC1):c.2691G>A (p.Gln897=)
NM_000368.5(TSC1):c.2691G>T (p.Gln897His) rs372915963
NM_000368.5(TSC1):c.2692C>A (p.Gln898Lys) rs118203728
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
NM_000368.5(TSC1):c.2695A>T (p.Thr899Ser)
NM_000368.5(TSC1):c.2698C>G (p.Gln900Glu) rs397514871
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter) rs397514871
NM_000368.5(TSC1):c.269T>C (p.Leu90Pro)
NM_000368.5(TSC1):c.2700G>C (p.Gln900His) rs560986491
NM_000368.5(TSC1):c.2702G>A (p.Arg901Lys)
NM_000368.5(TSC1):c.2703G>A (p.Arg901=)
NM_000368.5(TSC1):c.2707G>C (p.Asp903His)
NM_000368.5(TSC1):c.2709T>A (p.Asp903Glu)
NM_000368.5(TSC1):c.2709T>C (p.Asp903=) rs2131635426
NM_000368.5(TSC1):c.270C>G (p.Leu90=) rs142325036
NM_000368.5(TSC1):c.270_272dup (p.Ser91_Leu92insSer)
NM_000368.5(TSC1):c.2710A>G (p.Thr904Ala) rs1554813482
NM_000368.5(TSC1):c.2711C>A (p.Thr904Asn) rs1564471932
NM_000368.5(TSC1):c.2711C>T (p.Thr904Ile) rs1564471932
NM_000368.5(TSC1):c.2715_2716dup (p.Gln906fs) rs1588290658
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.5(TSC1):c.2718A>G (p.Gln906=) rs1845144230
NM_000368.5(TSC1):c.271T>G (p.Ser91Ala) rs2132235320
NM_000368.5(TSC1):c.271_272del (p.Ser91fs) rs118203360
NM_000368.5(TSC1):c.271del (p.Ser91fs) rs1588355566
NM_000368.5(TSC1):c.2720A>C (p.Lys907Thr)
NM_000368.5(TSC1):c.2721del (p.Lys907fs) rs1588290641
NM_000368.5(TSC1):c.2722C>A (p.Arg908=)
NM_000368.5(TSC1):c.272C>T (p.Ser91Leu) rs118203361
NM_000368.5(TSC1):c.2730G>A (p.Leu910=) rs1845142584
NM_000368.5(TSC1):c.2732A>C (p.Glu911Ala)
NM_000368.5(TSC1):c.2736G>A (p.Leu912=) rs1588290587
NM_000368.5(TSC1):c.2739A>G (p.Glu913=) rs750238092
NM_000368.5(TSC1):c.273G>C (p.Ser91=) rs115097221
NM_000368.5(TSC1):c.273G>T (p.Ser91=)
NM_000368.5(TSC1):c.2741C>A (p.Ser914Tyr)
NM_000368.5(TSC1):c.2741C>T (p.Ser914Phe)
NM_000368.5(TSC1):c.2743C>T (p.His915Tyr)
NM_000368.5(TSC1):c.2743_2747del (p.His915fs) rs2131633443
NM_000368.5(TSC1):c.2744dup (p.His915fs)
NM_000368.5(TSC1):c.2746C>T (p.Leu916=) rs2131633483
NM_000368.5(TSC1):c.2748G>A (p.Leu916=) rs1588290553
NM_000368.5(TSC1):c.2748G>C (p.Leu916=) rs1588290553
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro) rs397514873
NM_000368.5(TSC1):c.2753A>C (p.Lys918Thr) rs757025842
NM_000368.5(TSC1):c.2753A>G (p.Lys918Arg) rs757025842
NM_000368.5(TSC1):c.2755A>C (p.Lys919Gln) rs1319954878
NM_000368.5(TSC1):c.2755A>G (p.Lys919Glu) rs1319954878
NM_000368.5(TSC1):c.2756A>C (p.Lys919Thr) rs1324456435
NM_000368.5(TSC1):c.2757A>G (p.Lys919=) rs2131632795
NM_000368.5(TSC1):c.275T>G (p.Leu92Ter) rs2132234958
NM_000368.5(TSC1):c.2760C>T (p.Asp920=) rs1226490074
NM_000368.5(TSC1):c.2761C>A (p.His921Asn) rs1588290485
NM_000368.5(TSC1):c.2761C>T (p.His921Tyr)
NM_000368.5(TSC1):c.2762A>G (p.His921Arg) rs1845140377
NM_000368.5(TSC1):c.2764C>T (p.Leu922Phe) rs1011595359
NM_000368.5(TSC1):c.2768T>C (p.Leu923Pro) rs2131632108
NM_000368.5(TSC1):c.276A>C (p.Leu92Phe) rs1846814862
NM_000368.5(TSC1):c.276dup (p.Leu93fs) rs118203362
NM_000368.5(TSC1):c.2770T>G (p.Leu924Val)
NM_000368.5(TSC1):c.2771_2772insTTTTTATTTTTTATTTTTTTTTTTTTTATTTTTTTTTTAAAGGTAACATTCATCAGTAGCGCAGGTTGTTTTTGTATTGGGGGGTAAATCCTCAAGTCAAGCTCGACAGAANNNNNNNNNNTCTCGCTCTCGTGTCCTCGGTAGACGCCGTGTTGGGCCTCCCACAGTGCTGGGATTACTGGCGTGCGCCAGCGCGCCCGGCCGAAAGACCACCTTCTTTT (p.Leu924delinsPhePheTyrPheLeuPhePhePhePheLeuPhePhePheTer)
NM_000368.5(TSC1):c.2774A>T (p.Glu925Val) rs2131631775
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter) rs397514879
NM_000368.5(TSC1):c.2778G>A (p.Gln926=) rs1554813423
NM_000368.5(TSC1):c.2778G>C (p.Gln926His) rs1554813423
NM_000368.5(TSC1):c.277_278inv (p.Leu93Arg)
NM_000368.5(TSC1):c.2781G>T (p.Lys927Asn) rs118203733
NM_000368.5(TSC1):c.2787T>C (p.Tyr929=) rs753980869
NM_000368.5(TSC1):c.2788C>G (p.Leu930Val)
NM_000368.5(TSC1):c.2788C>T (p.Leu930=)
NM_000368.5(TSC1):c.278T>A (p.Leu93Gln) rs118203363
NM_000368.5(TSC1):c.278T>C (p.Leu93Pro) rs118203363
NM_000368.5(TSC1):c.2790A>G (p.Leu930=) rs2131631187
NM_000368.5(TSC1):c.2791G>C (p.Glu931Gln) rs1845137395
NM_000368.5(TSC1):c.2792A>C (p.Glu931Ala) rs1845137259
NM_000368.5(TSC1):c.2794G>A (p.Asp932Asn) rs2131630999
NM_000368.5(TSC1):c.2796T>G (p.Asp932Glu) rs766871150
NM_000368.5(TSC1):c.2797G>A (p.Val933Ile)
NM_000368.5(TSC1):c.2797G>T (p.Val933Phe) rs1845136906
NM_000368.5(TSC1):c.279G>A (p.Leu93=)
NM_000368.5(TSC1):c.2802A>T (p.Lys934Asn)
NM_000368.5(TSC1):c.2803C>G (p.Leu935Val)
NM_000368.5(TSC1):c.2804T>G (p.Leu935Arg) rs2131630651
NM_000368.5(TSC1):c.2805C>T (p.Leu935=)
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter) rs118203735
NM_000368.5(TSC1):c.2807A>G (p.Gln936Arg) rs2131630505
NM_000368.5(TSC1):c.2808G>A (p.Gln936=) rs1588290331
NM_000368.5(TSC1):c.2809G>A (p.Ala937Thr) rs1845136006
NM_000368.5(TSC1):c.2810C>T (p.Ala937Val)
NM_000368.5(TSC1):c.2811A>G (p.Ala937=)
NM_000368.5(TSC1):c.2812A>C (p.Arg938=) rs1207111375
NM_000368.5(TSC1):c.2813+10A>C
NM_000368.5(TSC1):c.2813+2T>G rs1845135533
NM_000368.5(TSC1):c.2813+5C>T rs1060503223
NM_000368.5(TSC1):c.2813+6T>C rs1845135110
NM_000368.5(TSC1):c.2813+9C>G
NM_000368.5(TSC1):c.2813G>A (p.Arg938Lys) rs1249697208
NM_000368.5(TSC1):c.2814-11G>A rs1287695326
NM_000368.5(TSC1):c.2814-12T>C
NM_000368.5(TSC1):c.2814-13C>T rs1393952049
NM_000368.5(TSC1):c.2814-16G>A
NM_000368.5(TSC1):c.2814-17T>C rs2131629273
NM_000368.5(TSC1):c.2814-18C>G
NM_000368.5(TSC1):c.2814-18C>T rs1588290161
NM_000368.5(TSC1):c.2814-19G>A rs2131629351
NM_000368.5(TSC1):c.2814-19G>C
NM_000368.5(TSC1):c.2814-1G>A
NM_000368.5(TSC1):c.2814-2A>G rs1588290111
NM_000368.5(TSC1):c.2814-4T>C
NM_000368.5(TSC1):c.2814-7C>G
NM_000368.5(TSC1):c.2814-7C>T rs1060504851
NM_000368.5(TSC1):c.2814A>C (p.Arg938Ser) rs1439157444
NM_000368.5(TSC1):c.2815G>A (p.Gly939Arg) rs1564471685
NM_000368.5(TSC1):c.2816G>A (p.Gly939Glu)
NM_000368.5(TSC1):c.2816G>T (p.Gly939Val) rs1350545510
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000368.5(TSC1):c.2819A>C (p.Gln940Pro) rs1845131755
NM_000368.5(TSC1):c.281G>A (p.Gly94Asp) rs2132234443
NM_000368.5(TSC1):c.281G>T (p.Gly94Val)
NM_000368.5(TSC1):c.2820G>A (p.Gln940=)
NM_000368.5(TSC1):c.2821C>T (p.Leu941=) rs2131628647
NM_000368.5(TSC1):c.2823G>A (p.Leu941=)
NM_000368.5(TSC1):c.2824C>G (p.Gln942Glu)
NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter)
NM_000368.5(TSC1):c.2828C>T (p.Ala943Val)
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser) rs751362258
NM_000368.5(TSC1):c.2831C>T (p.Ala944Val)
NM_000368.5(TSC1):c.2832A>G (p.Ala944=) rs2131628099
NM_000368.5(TSC1):c.2836A>G (p.Ser946Gly) rs1060503225
NM_000368.5(TSC1):c.2836A>T (p.Ser946Cys) rs1060503225
NM_000368.5(TSC1):c.2837G>A (p.Ser946Asn) rs1845130264
NM_000368.5(TSC1):c.2837G>C (p.Ser946Thr)
NM_000368.5(TSC1):c.2839A>G (p.Arg947Gly) rs1845130132
NM_000368.5(TSC1):c.2841G>A (p.Arg947=) rs1417111404
NM_000368.5(TSC1):c.2841G>C (p.Arg947Ser) rs1417111404
NM_000368.5(TSC1):c.2841G>T (p.Arg947Ser) rs1417111404
NM_000368.5(TSC1):c.2843A>G (p.Tyr948Cys) rs989183765
NM_000368.5(TSC1):c.2843A>T (p.Tyr948Phe) rs989183765
NM_000368.5(TSC1):c.2844T>C (p.Tyr948=)
NM_000368.5(TSC1):c.2848G>A (p.Ala950Thr)
NM_000368.5(TSC1):c.2848G>T (p.Ala950Ser) rs1845129427
NM_000368.5(TSC1):c.2849C>T (p.Ala950Val)
NM_000368.5(TSC1):c.2851C>T (p.Gln951Ter)
NM_000368.5(TSC1):c.2853G>A (p.Gln951=) rs2131627425
NM_000368.5(TSC1):c.2854A>G (p.Lys952Glu)
NM_000368.5(TSC1):c.2860A>G (p.Ile954Val)
NM_000368.5(TSC1):c.2861T>A (p.Ile954Lys) rs1845129125
NM_000368.5(TSC1):c.2861_2862delinsAC (p.Ile954Asn) rs1564471610
NM_000368.5(TSC1):c.2864C>A (p.Thr955Asn) rs1488726432
NM_000368.5(TSC1):c.2864C>T (p.Thr955Ile)
NM_000368.5(TSC1):c.2867A>T (p.Gln956Leu) rs1212768461
NM_000368.5(TSC1):c.2868G>A (p.Gln956=) rs2131626958
NM_000368.5(TSC1):c.2869G>A (p.Val957Met)
NM_000368.5(TSC1):c.286G>A (p.Val96Ile)
NM_000368.5(TSC1):c.286G>C (p.Val96Leu) rs987344953
NM_000368.5(TSC1):c.2874T>C (p.Phe958=) rs2131626672
NM_000368.5(TSC1):c.2881G>A (p.Glu961Lys)
NM_000368.5(TSC1):c.2881G>C (p.Glu961Gln)
NM_000368.5(TSC1):c.2883G>C (p.Glu961Asp) rs2131626309
NM_000368.5(TSC1):c.2884A>C (p.Ile962Leu) rs1227198324
NM_000368.5(TSC1):c.2884A>G (p.Ile962Val) rs1227198324
NM_000368.5(TSC1):c.2885T>A (p.Ile962Asn) rs1438535722
NM_000368.5(TSC1):c.2885T>C (p.Ile962Thr)
NM_000368.5(TSC1):c.2888T>C (p.Leu963Ser) rs2131626118
NM_000368.5(TSC1):c.2889A>G (p.Leu963=)
NM_000368.5(TSC1):c.2890G>A (p.Asp964Asn) rs1033463168
NM_000368.5(TSC1):c.2891A>T (p.Asp964Val) rs1554813302
NM_000368.5(TSC1):c.2893_2894dup (p.Leu965fs)
NM_000368.5(TSC1):c.2895A>T (p.Leu965Phe) rs750886491
NM_000368.5(TSC1):c.2898T>C (p.Tyr966=) rs1057522171
NM_000368.5(TSC1):c.2899G>T (p.Gly967Cys)
NM_000368.5(TSC1):c.289A>T (p.Ile97Leu) rs138541569
NM_000368.5(TSC1):c.28C>A (p.Leu10Ile) rs1399717425
NM_000368.5(TSC1):c.2903G>A (p.Arg968Lys)
NM_000368.5(TSC1):c.2904G>A (p.Arg968=) rs1554813280
NM_000368.5(TSC1):c.2905T>C (p.Leu969=) rs768350176
NM_000368.5(TSC1):c.2908G>A (p.Glu970Lys)
NM_000368.5(TSC1):c.2909A>G (p.Glu970Gly) rs1372477238
NM_000368.5(TSC1):c.290_291del (p.Ile97fs)
NM_000368.5(TSC1):c.2913del (p.Asp972fs)
NM_000368.5(TSC1):c.2914G>A (p.Asp972Asn) rs1845122540
NM_000368.5(TSC1):c.2915A>G (p.Asp972Gly) rs2131625009
NM_000368.5(TSC1):c.2916T>C (p.Asp972=) rs775179927
NM_000368.5(TSC1):c.291A>G (p.Ile97Met) rs1588355427
NM_000368.5(TSC1):c.2920C>T (p.Leu974Phe)
NM_000368.5(TSC1):c.2921T>G (p.Leu974Arg) rs2131624756
NM_000368.5(TSC1):c.2923C>T (p.Leu975=)
NM_000368.5(TSC1):c.2925G>A (p.Leu975=)
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu) rs796053448
NM_000368.5(TSC1):c.292A>G (p.Arg98Gly) rs2132233857
NM_000368.5(TSC1):c.2931del (p.Lys977fs) rs1845120600
NM_000368.5(TSC1):c.2932C>A (p.Leu978Ile) rs397514859
NM_000368.5(TSC1):c.2932C>T (p.Leu978Phe)
NM_000368.5(TSC1):c.2933T>A (p.Leu978His) rs770834438
NM_000368.5(TSC1):c.2933T>C (p.Leu978Pro) rs770834438
NM_000368.5(TSC1):c.2934T>C (p.Leu978=) rs1554813253
NM_000368.5(TSC1):c.2935G>A (p.Glu979Lys) rs1845118974
NM_000368.5(TSC1):c.2935GAA[2] (p.Glu981del) rs1233796412
NM_000368.5(TSC1):c.2938G>A (p.Glu980Lys) rs876658600
NM_000368.5(TSC1):c.2942A>G (p.Glu981Gly) rs2131623978
NM_000368.5(TSC1):c.2945A>G (p.Lys982Arg) rs1057520508
NM_000368.5(TSC1):c.2946A>G (p.Lys982=) rs1845117521
NM_000368.5(TSC1):c.2947G>A (p.Ala983Thr) rs1845117262
NM_000368.5(TSC1):c.2947G>T (p.Ala983Ser) rs1845117262
NM_000368.5(TSC1):c.2948C>G (p.Ala983Gly) rs2131623702
NM_000368.5(TSC1):c.2949_2957del (p.985AAE[1]) rs767902029
NM_000368.5(TSC1):c.2953G>A (p.Ala985Thr) rs1554813242
NM_000368.5(TSC1):c.2954C>T (p.Ala985Val)
NM_000368.5(TSC1):c.2958T>C (p.Ala986=)
NM_000368.5(TSC1):c.2958_2959insCTCCCTCTCCCTCTCCCTCTCCCACGGCCGCGGGCACCCCCCGCACACCGCCACACACCCACCCAAACCCCCAACAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAAAGCAGAAGCAGCT (p.Glu987fs)
NM_000368.5(TSC1):c.2958_2966dup (p.985AAE[3]) rs2131622960
NM_000368.5(TSC1):c.295C>T (p.Leu99=) rs2132233679
NM_000368.5(TSC1):c.2960A>G (p.Glu987Gly) rs867884507
NM_000368.5(TSC1):c.2963C>T (p.Ala988Val) rs1239372124
NM_000368.5(TSC1):c.2966C>T (p.Ala989Val) rs1554813219
NM_000368.5(TSC1):c.2967A>G (p.Ala989=)
NM_000368.5(TSC1):c.2967A>T (p.Ala989=)
NM_000368.5(TSC1):c.296_297del (p.Leu99fs)
NM_000368.5(TSC1):c.2970A>C (p.Glu990Asp)
NM_000368.5(TSC1):c.2972A>G (p.Glu991Gly)
NM_000368.5(TSC1):c.2973A>G (p.Glu991=)
NM_000368.5(TSC1):c.2974del (p.Arg992fs) rs1554813210
NM_000368.5(TSC1):c.2975+10A>G
NM_000368.5(TSC1):c.2975+12G>T rs1222204401
NM_000368.5(TSC1):c.2975+12_2975+13del
NM_000368.5(TSC1):c.2975+13A>G rs1845113774
NM_000368.5(TSC1):c.2975+15C>A
NM_000368.5(TSC1):c.2975+15C>G
NM_000368.5(TSC1):c.2975+15C>T
NM_000368.5(TSC1):c.2975+16T>G
NM_000368.5(TSC1):c.2975+1G>A
NM_000368.5(TSC1):c.2975+20T>A
NM_000368.5(TSC1):c.2975+20T>G
NM_000368.5(TSC1):c.2975+3A>G rs2131622699
NM_000368.5(TSC1):c.2975+4G>C rs1057521710
NM_000368.5(TSC1):c.2975+5G>T
NM_000368.5(TSC1):c.2975+7A>T rs2131622632
NM_000368.5(TSC1):c.2975+8C>A rs1588289352
NM_000368.5(TSC1):c.2976-10T>A rs913722609
NM_000368.5(TSC1):c.2976-11C>G
NM_000368.5(TSC1):c.2976-13G>A
NM_000368.5(TSC1):c.2976-13G>C rs1845091594
NM_000368.5(TSC1):c.2976-14C>G rs368652971
NM_000368.5(TSC1):c.2976-15C>T rs1195411560
NM_000368.5(TSC1):c.2976-17C>T
NM_000368.5(TSC1):c.2976-4dup
NM_000368.5(TSC1):c.2976-7C>T rs2131617134
NM_000368.5(TSC1):c.2976-8T>G rs1060504858
NM_000368.5(TSC1):c.2976G>T (p.Arg992Ser) rs1453837305
NM_000368.5(TSC1):c.2977C>A (p.Leu993Ile)
NM_000368.5(TSC1):c.2977C>T (p.Leu993Phe) rs1177810382
NM_000368.5(TSC1):c.2980G>C (p.Asp994His) rs78868727
NM_000368.5(TSC1):c.2983T>C (p.Cys995Arg)
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr) rs144314195
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly) rs1554813029
NM_000368.5(TSC1):c.2987G>A (p.Cys996Tyr) rs771810884
NM_000368.5(TSC1):c.2988T>C (p.Cys996=) rs1588288374
NM_000368.5(TSC1):c.298C>T (p.Gln100Ter) rs1846813509
NM_000368.5(TSC1):c.2991T>G (p.Asn997Lys)
NM_000368.5(TSC1):c.2993A>T (p.Asp998Val)
NM_000368.5(TSC1):c.2995G>C (p.Gly999Arg) rs780224196
NM_000368.5(TSC1):c.2996G>T (p.Gly999Val) rs1845089126
NM_000368.5(TSC1):c.2997G>A (p.Gly999=) rs1437222540
NM_000368.5(TSC1):c.2999G>A (p.Cys1000Tyr) rs1845088618
NM_000368.5(TSC1):c.2999G>T (p.Cys1000Phe)
NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp) rs552217429
NM_000368.5(TSC1):c.3000C>T (p.Cys1000=)
NM_000368.5(TSC1):c.3002C>T (p.Ser1001Leu)
NM_000368.5(TSC1):c.3004G>A (p.Asp1002Asn) rs1588288289
NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe) rs1554812991
NM_000368.5(TSC1):c.3009C>T (p.Ser1003=) rs2131615637
NM_000368.5(TSC1):c.300G>A (p.Gln100=) rs1588355421
NM_000368.5(TSC1):c.3010A>T (p.Met1004Leu) rs371879917
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile) rs751970451
NM_000368.5(TSC1):c.3013G>A (p.Val1005Ile) rs1588288220
NM_000368.5(TSC1):c.3015A>G (p.Val1005=)
NM_000368.5(TSC1):c.3015A>T (p.Val1005=)
NM_000368.5(TSC1):c.3018G>A (p.Gly1006=)
NM_000368.5(TSC1):c.3020A>G (p.His1007Arg)
NM_000368.5(TSC1):c.3021C>A (p.His1007Gln)
NM_000368.5(TSC1):c.3024T>C (p.Asn1008=) rs142954164
NM_000368.5(TSC1):c.3026A>G (p.Glu1009Gly)
NM_000368.5(TSC1):c.3027A>G (p.Glu1009=) rs1588288126
NM_000368.5(TSC1):c.3029A>G (p.Glu1010Gly)
NM_000368.5(TSC1):c.3030G>A (p.Glu1010=) rs118203741
NM_000368.5(TSC1):c.3034T>C (p.Ser1012Pro) rs764979889
NM_000368.5(TSC1):c.3035C>T (p.Ser1012Phe)
NM_000368.5(TSC1):c.3039C>A (p.Gly1013=)
NM_000368.5(TSC1):c.3039C>T (p.Gly1013=)
NM_000368.5(TSC1):c.303A>G (p.Pro101=) rs2132233153
NM_000368.5(TSC1):c.3041A>G (p.His1014Arg) rs2131613922
NM_000368.5(TSC1):c.3042C>A (p.His1014Gln) rs1394343524
NM_000368.5(TSC1):c.3042C>T (p.His1014=) rs1394343524
NM_000368.5(TSC1):c.3044A>G (p.Asn1015Ser)
NM_000368.5(TSC1):c.3045C>A (p.Asn1015Lys) rs759047948
NM_000368.5(TSC1):c.3046G>T (p.Gly1016Cys) rs1020905743
NM_000368.5(TSC1):c.3049G>A (p.Glu1017Lys) rs1554812930
NM_000368.5(TSC1):c.3049G>C (p.Glu1017Gln)
NM_000368.5(TSC1):c.304T>A (p.Ser102Thr) rs796053453
NM_000368.5(TSC1):c.304T>C (p.Ser102Pro) rs796053453
NM_000368.5(TSC1):c.3050A>G (p.Glu1017Gly) rs922638686
NM_000368.5(TSC1):c.3051G>A (p.Glu1017=)
NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu) rs1317622700
NM_000368.5(TSC1):c.3056A>G (p.Lys1019Arg) rs2131612809
NM_000368.5(TSC1):c.3058A>G (p.Thr1020Ala) rs1588287982
NM_000368.5(TSC1):c.3059C>A (p.Thr1020Asn)
NM_000368.5(TSC1):c.3059C>T (p.Thr1020Ile) rs1060503214
NM_000368.5(TSC1):c.3060C>A (p.Thr1020=)
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=) rs1380396209
NM_000368.5(TSC1):c.3061C>T (p.Pro1021Ser) rs1845082934
NM_000368.5(TSC1):c.3062C>G (p.Pro1021Arg) rs1845082733
NM_000368.5(TSC1):c.3063C>T (p.Pro1021=) rs2131612277
NM_000368.5(TSC1):c.3065G>A (p.Arg1022Lys)
NM_000368.5(TSC1):c.3066G>A (p.Arg1022=) rs1588287932
NM_000368.5(TSC1):c.3067C>T (p.Pro1023Ser) rs138445573
NM_000368.5(TSC1):c.3068C>T (p.Pro1023Leu) rs1554812917
NM_000368.5(TSC1):c.3069C>T (p.Pro1023=) rs1588287899
NM_000368.5(TSC1):c.3072C>T (p.Ser1024=) rs1554812912
NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn) rs1845081620
NM_000368.5(TSC1):c.3074G>C (p.Ser1025Thr)
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295
NM_000368.5(TSC1):c.3076G>T (p.Ala1026Ser) rs533565295
NM_000368.5(TSC1):c.3076_3077delinsTT (p.Ala1026Phe) rs1588287842
NM_000368.5(TSC1):c.3079C>G (p.Arg1027Gly)
NM_000368.5(TSC1):c.3083G>A (p.Gly1028Asp) rs1845080410
NM_000368.5(TSC1):c.3084C>T (p.Gly1028=)
NM_000368.5(TSC1):c.3084_3086del (p.Ser1030del) rs1588287797
NM_000368.5(TSC1):c.3085A>T (p.Ser1029Cys) rs2131610745
NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn) rs796053450
NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile) rs796053450
NM_000368.5(TSC1):c.3088A>G (p.Ser1030Gly)
NM_000368.5(TSC1):c.3088A>T (p.Ser1030Cys) rs1588287783
NM_000368.5(TSC1):c.308G>A (p.Trp103Ter) rs118203364
NM_000368.5(TSC1):c.308G>T (p.Trp103Leu) rs118203364
NM_000368.5(TSC1):c.3090T>A (p.Ser1030Arg)
NM_000368.5(TSC1):c.3091G>A (p.Gly1031Arg) rs772043928
NM_000368.5(TSC1):c.3099A>C (p.Arg1033Ser) rs1015742388
NM_000368.5(TSC1):c.3099A>T (p.Arg1033Ser)
NM_000368.5(TSC1):c.309G>A (p.Trp103Ter) rs118203365
NM_000368.5(TSC1):c.30T>A (p.Leu10=)
NM_000368.5(TSC1):c.3100G>C (p.Gly1034Arg)
NM_000368.5(TSC1):c.3101G>T (p.Gly1034Val) rs1034398735
NM_000368.5(TSC1):c.3104G>A (p.Gly1035Asp) rs1176815392
NM_000368.5(TSC1):c.3105T>A (p.Gly1035=) rs1588287659
NM_000368.5(TSC1):c.3106G>A (p.Gly1036Arg) rs1588287655
NM_000368.5(TSC1):c.3106_3107delinsAA (p.Gly1036Lys) rs2131609182
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu) rs774196458
NM_000368.5(TSC1):c.3109_3111dup (p.Gly1037dup) rs2131608962
NM_000368.5(TSC1):c.3111C>G (p.Gly1037=) rs2131608875
NM_000368.5(TSC1):c.3112AGC[3] (p.Ser1041_Ser1043del) rs2234980
NM_000368.5(TSC1):c.3112AGC[4] (p.Ser1042_Ser1043del) rs2234980
NM_000368.5(TSC1):c.3112AGC[5] (p.Ser1043del) rs2234980
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3112AGC[8] (p.Ser1042_Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3112AGC[9] (p.Ser1041_Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3113G>A (p.Ser1038Asn) rs1060503196
NM_000368.5(TSC1):c.3113G>T (p.Ser1038Ile) rs1060503196
NM_000368.5(TSC1):c.3114C>G (p.Ser1038Arg) rs1588287598
NM_000368.5(TSC1):c.3114C>T (p.Ser1038=) rs1588287598
NM_000368.5(TSC1):c.3115A>C (p.Ser1039Arg) rs1490199228
NM_000368.5(TSC1):c.3121A>G (p.Ser1041Gly) rs1060503204
NM_000368.5(TSC1):c.3124A>G (p.Ser1042Gly) rs1845075552
NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn) rs148931779
NM_000368.5(TSC1):c.3126C>T (p.Ser1042=)
NM_000368.5(TSC1):c.3127A>G (p.Ser1043Gly) rs1554812848
NM_000368.5(TSC1):c.3128G>A (p.Ser1043Asn)
NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer) rs1588287475
NM_000368.5(TSC1):c.3130G>C (p.Glu1044Gln)
NM_000368.5(TSC1):c.3132G>A (p.Glu1044=) rs1588287426
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val) rs747162992
NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe) rs747162992
NM_000368.5(TSC1):c.3134T>A (p.Leu1045His) rs2131606944
NM_000368.5(TSC1):c.3137C>T (p.Ser1046Phe) rs1845071202
NM_000368.5(TSC1):c.3140C>G (p.Thr1047Ser) rs587778726
NM_000368.5(TSC1):c.3141C>A (p.Thr1047=) rs892228756
NM_000368.5(TSC1):c.3141C>T (p.Thr1047=) rs892228756
NM_000368.5(TSC1):c.3142C>T (p.Pro1048Ser)
NM_000368.5(TSC1):c.3143C>G (p.Pro1048Arg)
NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu) rs1203864892
NM_000368.5(TSC1):c.3144A>C (p.Pro1048=) rs1554812826
NM_000368.5(TSC1):c.3144A>G (p.Pro1048=) rs1554812826
NM_000368.5(TSC1):c.3146A>G (p.Glu1049Gly) rs2131606041
NM_000368.5(TSC1):c.3147G>C (p.Glu1049Asp) rs397514831
NM_000368.5(TSC1):c.314A>C (p.His105Pro) rs758924121
NM_000368.5(TSC1):c.3157C>G (p.His1053Asp)
NM_000368.5(TSC1):c.3159C>T (p.His1053=) rs778413037
NM_000368.5(TSC1):c.3160C>T (p.Gln1054Ter)
NM_000368.5(TSC1):c.3161A>G (p.Gln1054Arg) rs1588287238
NM_000368.5(TSC1):c.3162G>A (p.Gln1054=)
NM_000368.5(TSC1):c.3164G>T (p.Arg1055Met) rs1167652701
NM_000368.5(TSC1):c.3165G>A (p.Arg1055=) rs2131604362
NM_000368.5(TSC1):c.3168A>G (p.Ala1056=) rs2131604139
NM_000368.5(TSC1):c.316A>G (p.Lys106Glu)
NM_000368.5(TSC1):c.3170G>T (p.Gly1057Val) rs1588287204
NM_000368.5(TSC1):c.3173del (p.Pro1058fs)
NM_000368.5(TSC1):c.3174A>G (p.Pro1058=)
NM_000368.5(TSC1):c.3175T>C (p.Phe1059Leu) rs1379924767
NM_000368.5(TSC1):c.3176T>G (p.Phe1059Cys)
NM_000368.5(TSC1):c.3177C>T (p.Phe1059=) rs753263747
NM_000368.5(TSC1):c.317A>G (p.Lys106Arg) rs1846812083
NM_000368.5(TSC1):c.3181A>C (p.Ser1061Arg) rs1203493016
NM_000368.5(TSC1):c.3183T>C (p.Ser1061=) rs2131603096
NM_000368.5(TSC1):c.3186G>A (p.Arg1062=)
NM_000368.5(TSC1):c.3186G>T (p.Arg1062=)
NM_000368.5(TSC1):c.3187T>C (p.Trp1063Arg) rs1845063816
NM_000368.5(TSC1):c.318G>A (p.Lys106=)
NM_000368.5(TSC1):c.3190G>A (p.Glu1064Lys) rs1845063569
NM_000368.5(TSC1):c.3191A>T (p.Glu1064Val)
NM_000368.5(TSC1):c.3192G>A (p.Glu1064=)
NM_000368.5(TSC1):c.3192G>T (p.Glu1064Asp)
NM_000368.5(TSC1):c.3195G>T (p.Thr1065=)
NM_000368.5(TSC1):c.3196A>C (p.Thr1066Pro)
NM_000368.5(TSC1):c.3197C>T (p.Thr1066Ile)
NM_000368.5(TSC1):c.3198T>G (p.Thr1066=) rs1845061945
NM_000368.5(TSC1):c.3199A>C (p.Met1067Leu)
NM_000368.5(TSC1):c.3199A>G (p.Met1067Val) rs2131602062
NM_000368.5(TSC1):c.3199_3200del (p.Met1067fs) rs2131602023
NM_000368.5(TSC1):c.319C>T (p.Leu107Phe)
NM_000368.5(TSC1):c.31C>T (p.Leu11Phe)
NM_000368.5(TSC1):c.3200T>C (p.Met1067Thr) rs1167362899
NM_000368.5(TSC1):c.3205G>A (p.Glu1069Lys) rs1845061706
NM_000368.5(TSC1):c.3206A>T (p.Glu1069Val) rs1554812780
NM_000368.5(TSC1):c.3209C>G (p.Ala1070Gly) rs1060503200
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val) rs1060503200
NM_000368.5(TSC1):c.3212C>T (p.Ser1071Phe) rs2131601255
NM_000368.5(TSC1):c.3213T>C (p.Ser1071=) rs2131601196
NM_000368.5(TSC1):c.3214G>A (p.Ala1072Thr) rs1845060154
NM_000368.5(TSC1):c.3214G>T (p.Ala1072Ser) rs1845060154
NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val) rs779369226
NM_000368.5(TSC1):c.3216C>G (p.Ala1072=) rs118203747
NM_000368.5(TSC1):c.3216C>T (p.Ala1072=) rs118203747
NM_000368.5(TSC1):c.3217A>G (p.Ser1073Gly) rs1845059319
NM_000368.5(TSC1):c.321C>T (p.Leu107=) rs2132232165
NM_000368.5(TSC1):c.3222C>G (p.Ile1074Met)
NM_000368.5(TSC1):c.3223C>A (p.Pro1075Thr)
NM_000368.5(TSC1):c.3223C>T (p.Pro1075Ser) rs1845058768
NM_000368.5(TSC1):c.3225C>T (p.Pro1075=)
NM_000368.5(TSC1):c.3226A>C (p.Thr1076Pro) rs1845058224
NM_000368.5(TSC1):c.3227C>G (p.Thr1076Ser) rs2131600316
NM_000368.5(TSC1):c.3228C>A (p.Thr1076=) rs140622357
NM_000368.5(TSC1):c.3229A>G (p.Thr1077Ala)
NM_000368.5(TSC1):c.322T>C (p.Ser108Pro) rs1178072536
NM_000368.5(TSC1):c.3235G>A (p.Gly1079Ser)
NM_000368.5(TSC1):c.3239C>T (p.Ser1080Leu)
NM_000368.5(TSC1):c.323C>G (p.Ser108Cys) rs1846811712
NM_000368.5(TSC1):c.3240A>C (p.Ser1080=)
NM_000368.5(TSC1):c.3240A>G (p.Ser1080=) rs1554812759
NM_000368.5(TSC1):c.3243T>A (p.Leu1081=) rs2131599256
NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala) rs1060503191
NM_000368.5(TSC1):c.3245C>T (p.Pro1082Leu) rs767439431
NM_000368.5(TSC1):c.3246C>A (p.Pro1082=) rs2131599043
NM_000368.5(TSC1):c.3246C>T (p.Pro1082=) rs2131599043
NM_000368.5(TSC1):c.3250T>C (p.Ser1084Pro) rs796053463
NM_000368.5(TSC1):c.3252A>C (p.Ser1084=) rs886063621
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg) rs1845053380
NM_000368.5(TSC1):c.3258C>G (p.Ser1086Arg) rs1845053380
NM_000368.5(TSC1):c.325C>G (p.Gln109Glu) rs397514774
NM_000368.5(TSC1):c.325C>T (p.Gln109Ter) rs397514774
NM_000368.5(TSC1):c.3260T>A (p.Phe1087Tyr) rs2131598234
NM_000368.5(TSC1):c.3261C>T (p.Phe1087=) rs2131598168
NM_000368.5(TSC1):c.3263T>G (p.Leu1088Arg) rs1845053005
NM_000368.5(TSC1):c.3266G>A (p.Gly1089Asp) rs762845573
NM_000368.5(TSC1):c.3269T>C (p.Met1090Thr)
NM_000368.5(TSC1):c.326A>G (p.Gln109Arg) rs1846811126
NM_000368.5(TSC1):c.326_328del (p.Gln109_Ala110delinsPro) rs1846810976
NM_000368.5(TSC1):c.3273G>A (p.Lys1091=) rs2131597498
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser) rs747053008
NM_000368.5(TSC1):c.3275C>G (p.Ala1092Gly) rs1845051123
NM_000368.5(TSC1):c.3276T>G (p.Ala1092=) rs2131597261
NM_000368.5(TSC1):c.3277C>T (p.Arg1093Ter) rs1431256375
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
NM_000368.5(TSC1):c.3278G>C (p.Arg1093Pro) rs550526986
NM_000368.5(TSC1):c.3279A>C (p.Arg1093=) rs772288584
NM_000368.5(TSC1):c.3279A>G (p.Arg1093=) rs772288584
NM_000368.5(TSC1):c.327A>G (p.Gln109=)
NM_000368.5(TSC1):c.3280G>C (p.Glu1094Gln) rs1845049905
NM_000368.5(TSC1):c.3281A>G (p.Glu1094Gly) rs1588286774
NM_000368.5(TSC1):c.3281A>T (p.Glu1094Val) rs1588286774
NM_000368.5(TSC1):c.3282G>T (p.Glu1094Asp)
NM_000368.5(TSC1):c.3283_3284delinsAG (p.Leu1095Arg)
NM_000368.5(TSC1):c.3290G>T (p.Arg1097Leu) rs118203750
NM_000368.5(TSC1):c.3292A>C (p.Asn1098His) rs1845048359
NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser) rs1554812687
NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg) rs876660132
NM_000368.5(TSC1):c.3298A>T (p.Ser1100Cys) rs1845047652
NM_000368.5(TSC1):c.329C>T (p.Ala110Val) rs1588355332
NM_000368.5(TSC1):c.3301G>A (p.Glu1101Lys) rs1554812661
NM_000368.5(TSC1):c.3303G>T (p.Glu1101Asp) rs118203751
NM_000368.5(TSC1):c.3304A>T (p.Ser1102Cys)
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn) rs1263464680
NM_000368.5(TSC1):c.3308A>G (p.Gln1103Arg) rs1564469848
NM_000368.5(TSC1):c.3309G>C (p.Gln1103His) rs1474184918
NM_000368.5(TSC1):c.330A>C (p.Ala110=)
NM_000368.5(TSC1):c.330A>T (p.Ala110=) rs2132231516
NM_000368.5(TSC1):c.3311G>A (p.Cys1104Tyr) rs796053467
NM_000368.5(TSC1):c.3311G>T (p.Cys1104Phe) rs796053467
NM_000368.5(TSC1):c.3315T>C (p.Asp1105=)
NM_000368.5(TSC1):c.3316G>A (p.Glu1106Lys) rs2131594768
NM_000368.5(TSC1):c.3318G>A (p.Glu1106=) rs2131594665
NM_000368.5(TSC1):c.3319G>A (p.Asp1107Asn) rs1060503226
NM_000368.5(TSC1):c.3321C>G (p.Asp1107Glu) rs118203752
NM_000368.5(TSC1):c.3322G>T (p.Gly1108Cys) rs118203753
NM_000368.5(TSC1):c.3325A>G (p.Met1109Val) rs1845043842
NM_000368.5(TSC1):c.3327G>T (p.Met1109Ile) rs1845043593
NM_000368.5(TSC1):c.3328A>C (p.Thr1110Pro)
NM_000368.5(TSC1):c.3329C>G (p.Thr1110Ser) rs952996030
NM_000368.5(TSC1):c.3329C>T (p.Thr1110Ile)
NM_000368.5(TSC1):c.3331A>G (p.Ser1111Gly)
NM_000368.5(TSC1):c.3332G>A (p.Ser1111Asn) rs1554812642
NM_000368.5(TSC1):c.3335G>A (p.Ser1112Asn)
NM_000368.5(TSC1):c.3336C>T (p.Ser1112=) rs761334590
NM_000368.5(TSC1):c.3337C>A (p.Leu1113Ile) rs1449696743
NM_000368.5(TSC1):c.3338T>C (p.Leu1113Pro) rs1845042308
NM_000368.5(TSC1):c.3341C>T (p.Ser1114Phe) rs2131593288
NM_000368.5(TSC1):c.3345G>C (p.Glu1115Asp) rs751467429
NM_000368.5(TSC1):c.3347G>C (p.Ser1116Thr)
NM_000368.5(TSC1):c.3348C>A (p.Ser1116Arg)
NM_000368.5(TSC1):c.334C>T (p.Leu112Phe) rs1554820276
NM_000368.5(TSC1):c.3351A>C (p.Leu1117=)
NM_000368.5(TSC1):c.3353A>G (p.Lys1118Arg)
NM_000368.5(TSC1):c.3357A>G (p.Thr1119=) rs2131592505
NM_000368.5(TSC1):c.3358_3359del (p.Glu1120fs)
NM_000368.5(TSC1):c.3359_3360del (p.Glu1120fs) rs1845040133
NM_000368.5(TSC1):c.335T>A (p.Leu112His) rs2132231093
NM_000368.5(TSC1):c.3361C>G (p.Leu1121Val) rs769478982
NM_000368.5(TSC1):c.3361C>T (p.Leu1121=) rs769478982
NM_000368.5(TSC1):c.3363G>A (p.Leu1121=)
NM_000368.5(TSC1):c.3363G>C (p.Leu1121=) rs1060504857
NM_000368.5(TSC1):c.3363G>T (p.Leu1121=) rs1060504857
NM_000368.5(TSC1):c.3365G>A (p.Gly1122Asp)
NM_000368.5(TSC1):c.3368_3369del (p.Lys1123fs) rs878853967
NM_000368.5(TSC1):c.3372C>G (p.Asp1124Glu)
NM_000368.5(TSC1):c.3372C>T (p.Asp1124=)
NM_000368.5(TSC1):c.3373T>A (p.Leu1125Met)
NM_000368.5(TSC1):c.3375_3376delinsTT (p.Leu1125_Gly1126delinsPheCys)
NM_000368.5(TSC1):c.3376_3377dup (p.Glu1128fs) rs1845038227
NM_000368.5(TSC1):c.3377G>T (p.Gly1126Val) rs1446630759
NM_000368.5(TSC1):c.3378T>A (p.Gly1126=) rs2131591124
NM_000368.5(TSC1):c.3379G>A (p.Val1127Met) rs1845037495
NM_000368.5(TSC1):c.3379G>T (p.Val1127Leu) rs1845037495
NM_000368.5(TSC1):c.337_338del (p.Leu113fs) rs118203367
NM_000368.5(TSC1):c.3389A>G (p.Lys1130Arg) rs1588286359
NM_000368.5(TSC1):c.338_343del (p.Leu113_Pro114del)
NM_000368.5(TSC1):c.3390G>T (p.Lys1130Asn)
NM_000368.5(TSC1):c.3394C>G (p.Pro1132Ala)
NM_000368.5(TSC1):c.3395C>T (p.Pro1132Leu) rs1564469655
NM_000368.5(TSC1):c.3396C>G (p.Pro1132=) rs774980129
NM_000368.5(TSC1):c.3399G>A (p.Leu1133=) rs2131589934
NM_000368.5(TSC1):c.3399G>T (p.Leu1133=) rs2131589934
NM_000368.5(TSC1):c.339G>A (p.Leu113=) rs1588355270
NM_000368.5(TSC1):c.339del (p.Leu113fs)
NM_000368.5(TSC1):c.33T>C (p.Leu11=) rs1329395556
NM_000368.5(TSC1):c.3400A>C (p.Asn1134His) rs1554812610
NM_000368.5(TSC1):c.3403C>T (p.Leu1135=) rs749612772
NM_000368.5(TSC1):c.3404T>A (p.Leu1135Gln)
NM_000368.5(TSC1):c.3406G>A (p.Asp1136Asn)
NM_000368.5(TSC1):c.3407A>G (p.Asp1136Gly) rs1588286218
NM_000368.5(TSC1):c.340C>G (p.Pro114Ala)
NM_000368.5(TSC1):c.3410G>A (p.Gly1137Asp)
NM_000368.5(TSC1):c.3410G>T (p.Gly1137Val) rs1845032228
NM_000368.5(TSC1):c.3411C>A (p.Gly1137=)
NM_000368.5(TSC1):c.3412C>T (p.Pro1138Ser) rs2131589157
NM_000368.5(TSC1):c.3413C>A (p.Pro1138His) rs756449737
NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr) rs1845031012
NM_000368.5(TSC1):c.3417C>A (p.His1139Gln) rs756737864
NM_000368.5(TSC1):c.3417C>T (p.His1139=) rs756737864
NM_000368.5(TSC1):c.3418C>T (p.Pro1140Ser) rs2131588755
NM_000368.5(TSC1):c.341CTT[1] (p.Ser115del) rs1846809072
NM_000368.5(TSC1):c.3422C>G (p.Ser1141Cys) rs1344689860
NM_000368.5(TSC1):c.3423T>A (p.Ser1141=)
NM_000368.5(TSC1):c.3423T>C (p.Ser1141=) rs1564469544
NM_000368.5(TSC1):c.3424C>G (p.Pro1142Ala) rs1060503227
NM_000368.5(TSC1):c.3426C>T (p.Pro1142=) rs758286878
NM_000368.5(TSC1):c.3428C>G (p.Pro1143Arg)
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=) rs759431801
NM_000368.5(TSC1):c.3429G>C (p.Pro1143=) rs759431801
NM_000368.5(TSC1):c.342T>G (p.Pro114=) rs754220721
NM_000368.5(TSC1):c.3431C>T (p.Thr1144Ile) rs1845027394
NM_000368.5(TSC1):c.3432C>G (p.Thr1144=) rs1588285980
NM_000368.5(TSC1):c.3432C>T (p.Thr1144=) rs1588285980
NM_000368.5(TSC1):c.3435G>C (p.Pro1145=) rs140352085
NM_000368.5(TSC1):c.3436G>A (p.Asp1146Asn) rs397514806
NM_000368.5(TSC1):c.3436del (p.Asp1146fs) rs1588285924
NM_000368.5(TSC1):c.3438C>G (p.Asp1146Glu)
NM_000368.5(TSC1):c.343T>A (p.Ser115Thr) rs2132230552
NM_000368.5(TSC1):c.343del (p.Ser115fs) rs2132230601
NM_000368.5(TSC1):c.3442G>A (p.Val1148Ile) rs1554812551
NM_000368.5(TSC1):c.3444del (p.Gly1149fs) rs1845025560
NM_000368.5(TSC1):c.3445G>A (p.Gly1149Arg)
NM_000368.5(TSC1):c.3448C>T (p.Gln1150Ter) rs2131586779
NM_000368.5(TSC1):c.344del (p.Ser115fs) rs2132230501
NM_000368.5(TSC1):c.3452T>A (p.Leu1151Gln) rs2131586553
NM_000368.5(TSC1):c.3453A>G (p.Leu1151=) rs1554812550
NM_000368.5(TSC1):c.3454C>T (p.His1152Tyr) rs1845025129
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg) rs1554812543
NM_000368.5(TSC1):c.3456T>C (p.His1152=) rs1588285851
NM_000368.5(TSC1):c.3457A>G (p.Ile1153Val) rs1845024693
NM_000368.5(TSC1):c.3458T>C (p.Ile1153Thr)
NM_000368.5(TSC1):c.3459C>T (p.Ile1153=) rs1290663446
NM_000368.5(TSC1):c.3460A>G (p.Met1154Val) rs1845024278
NM_000368.5(TSC1):c.3464A>G (p.Asp1155Gly) rs2131585776
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp) rs796053451
NM_000368.5(TSC1):c.346T>C (p.Leu116=) rs199620268
NM_000368.5(TSC1):c.3470A>G (p.Asn1157Ser) rs1845023976
NM_000368.5(TSC1):c.3471T>C (p.Asn1157=)
NM_000368.5(TSC1):c.3475A>C (p.Thr1159Pro) rs1216169846
NM_000368.5(TSC1):c.3476C>T (p.Thr1159Ile) rs2131585551
NM_000368.5(TSC1):c.3478CAT[1] (p.His1161del)
NM_000368.5(TSC1):c.347T>C (p.Leu116Ser) rs2132230247
NM_000368.5(TSC1):c.3480T>C (p.His1160=)
NM_000368.5(TSC1):c.3482A>G (p.His1161Arg) rs1564469371
NM_000368.5(TSC1):c.3483T>A (p.His1161Gln) rs1588285797
NM_000368.5(TSC1):c.3489C>T (p.His1163=) rs1554812527
NM_000368.5(TSC1):c.348A>G (p.Leu116=) rs755799702
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe) rs755799702
NM_000368.5(TSC1):c.3491G>A (p.Ser1164Asn) rs2131585043
NM_000368.5(TSC1):c.349C>T (p.Leu117=)
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro) rs118203368
NM_000368.5(TSC1):c.354del (p.Lys118fs)
NM_000368.5(TSC1):c.356G>A (p.Cys119Tyr) rs1554820265
NM_000368.5(TSC1):c.356G>T (p.Cys119Phe) rs1554820265
NM_000368.5(TSC1):c.358C>A (p.Leu120Ile) rs1554820263
NM_000368.5(TSC1):c.358C>T (p.Leu120Phe)
NM_000368.5(TSC1):c.35C>T (p.Ala12Val) rs1588363595
NM_000368.5(TSC1):c.360_361insGGCAGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAATGTCTC (p.Lys121fs)
NM_000368.5(TSC1):c.360_361insSVAelement
NM_000368.5(TSC1):c.361A>C (p.Lys121Gln) rs1846807332
NM_000368.5(TSC1):c.362A>T (p.Lys121Met) rs118203369
NM_000368.5(TSC1):c.363+11T>C
NM_000368.5(TSC1):c.363+17G>T rs2132228627
NM_000368.5(TSC1):c.363+18del
NM_000368.5(TSC1):c.363+19T>C
NM_000368.5(TSC1):c.363+1G>A rs118203372
NM_000368.5(TSC1):c.363+1G>T rs118203372
NM_000368.5(TSC1):c.363+2_363+5del rs1846806279
NM_000368.5(TSC1):c.363+3A>G rs1588355128
NM_000368.5(TSC1):c.363+3_363+18del rs1554820251
NM_000368.5(TSC1):c.363+5G>C rs118203374
NM_000368.5(TSC1):c.363+5_363+8del rs1846805825
NM_000368.5(TSC1):c.363+668G>T rs2132219029
NM_000368.5(TSC1):c.363+6A>T rs2132228938
NM_000368.5(TSC1):c.363+7T>A
NM_000368.5(TSC1):c.363G>C (p.Lys121Asn) rs118203370
NM_000368.5(TSC1):c.364-10T>C rs2132194838
NM_000368.5(TSC1):c.364-12T>C
NM_000368.5(TSC1):c.364-13dup rs1355054898
NM_000368.5(TSC1):c.364-14C>T rs1020420756
NM_000368.5(TSC1):c.364-14del
NM_000368.5(TSC1):c.364-15C>A
NM_000368.5(TSC1):c.364-15C>T rs1846686000
NM_000368.5(TSC1):c.364-16A>G
NM_000368.5(TSC1):c.364-19T>G rs2132195223
NM_000368.5(TSC1):c.364-1G>A
NM_000368.5(TSC1):c.364-1G>C rs118203376
NM_000368.5(TSC1):c.364-1G>T rs118203376
NM_000368.5(TSC1):c.364-20T>G
NM_000368.5(TSC1):c.364-2A>G rs1846685279
NM_000368.5(TSC1):c.364-4G>A
NM_000368.5(TSC1):c.364-5T>C rs111865190
NM_000368.5(TSC1):c.364-5T>G
NM_000368.5(TSC1):c.364-6C>T rs2132194685
NM_000368.5(TSC1):c.364-7C>A rs775465260
NM_000368.5(TSC1):c.364-7C>G rs775465260
NM_000368.5(TSC1):c.364-9C>T
NM_000368.5(TSC1):c.365T>C (p.Met122Thr) rs796053454
NM_000368.5(TSC1):c.366G>A (p.Met122Ile)
NM_000368.5(TSC1):c.368A>G (p.Asp123Gly)
NM_000368.5(TSC1):c.369C>T (p.Asp123=) rs2132194269
NM_000368.5(TSC1):c.36C>A (p.Ala12=) rs1588363584
NM_000368.5(TSC1):c.370A>T (p.Thr124Ser) rs745871522
NM_000368.5(TSC1):c.372T>G (p.Thr124=) rs1237342078
NM_000368.5(TSC1):c.375C>A (p.Asp125Glu) rs560863078
NM_000368.5(TSC1):c.375CGT[1] (p.Val128del)
NM_000368.5(TSC1):c.378_379insCGT (p.Val126_Val127insArg) rs1846682853
NM_000368.5(TSC1):c.37A>C (p.Met13Leu)
NM_000368.5(TSC1):c.37A>G (p.Met13Val) rs768147590
NM_000368.5(TSC1):c.381_383del (p.Val128del) rs118203378
NM_000368.5(TSC1):c.383T>C (p.Val128Ala) rs1588350850
NM_000368.5(TSC1):c.384_401del (p.Leu129_Leu134del) rs1588350733
NM_000368.5(TSC1):c.385C>A (p.Leu129Ile)
NM_000368.5(TSC1):c.385C>G (p.Leu129Val) rs1060503198
NM_000368.5(TSC1):c.385C>T (p.Leu129Phe) rs1060503198
NM_000368.5(TSC1):c.391A>G (p.Thr131Ala) rs1564499857
NM_000368.5(TSC1):c.391A>T (p.Thr131Ser) rs1564499857
NM_000368.5(TSC1):c.392C>T (p.Thr131Ile)
NM_000368.5(TSC1):c.393A>C (p.Thr131=)
NM_000368.5(TSC1):c.393_405del (p.Thr131_Gly132insTer) rs2132191644
NM_000368.5(TSC1):c.395G>A (p.Gly132Asp) rs397514784
NM_000368.5(TSC1):c.395G>C (p.Gly132Ala) rs397514784
NM_000368.5(TSC1):c.395_406delinsCA (p.Gly132fs) rs118203380
NM_000368.5(TSC1):c.396C>A (p.Gly132=) rs368922726
NM_000368.5(TSC1):c.396C>T (p.Gly132=) rs368922726
NM_000368.5(TSC1):c.397G>T (p.Val133Phe) rs118203381
NM_000368.5(TSC1):c.397_406del (p.Gly132_Val133insTer) rs2132191512
NM_000368.5(TSC1):c.398dup (p.Val135fs) rs2132191990
NM_000368.5(TSC1):c.39G>A (p.Met13Ile) rs2132296041
NM_000368.5(TSC1):c.400_412dup (p.Thr138fs)
NM_000368.5(TSC1):c.403G>A (p.Val135Met) rs1588350708
NM_000368.5(TSC1):c.403G>C (p.Val135Leu) rs1588350708
NM_000368.5(TSC1):c.403G>T (p.Val135Leu)
NM_000368.5(TSC1):c.405G>A (p.Val135=)
NM_000368.5(TSC1):c.406_418delinsGT (p.Leu136fs) rs1846678053
NM_000368.5(TSC1):c.408G>T (p.Leu136Phe)
NM_000368.5(TSC1):c.412A>G (p.Thr138Ala) rs1846678617
NM_000368.5(TSC1):c.413C>T (p.Thr138Ile) rs1163879822
NM_000368.5(TSC1):c.419T>C (p.Leu140Pro) rs1588350642
NM_000368.5(TSC1):c.420A>G (p.Leu140=) rs1588350620
NM_000368.5(TSC1):c.421C>G (p.Pro141Ala) rs1846677371
NM_000368.5(TSC1):c.421_422insTCTAC (p.Pro141fs)
NM_000368.5(TSC1):c.423A>G (p.Pro141=) rs1846677189
NM_000368.5(TSC1):c.425T>C (p.Met142Thr) rs886042190
NM_000368.5(TSC1):c.42G>A (p.Leu14=) rs762233181
NM_000368.5(TSC1):c.42G>C (p.Leu14=)
NM_000368.5(TSC1):c.430C>G (p.Pro144Ala) rs2132190386
NM_000368.5(TSC1):c.431C>A (p.Pro144Gln) rs1846676674
NM_000368.5(TSC1):c.432A>C (p.Pro144=) rs1366888701
NM_000368.5(TSC1):c.433C>T (p.Gln145Ter) rs118203382
NM_000368.5(TSC1):c.434A>C (p.Gln145Pro)
NM_000368.5(TSC1):c.434A>G (p.Gln145Arg) rs2132190023
NM_000368.5(TSC1):c.435G>A (p.Gln145=)
NM_000368.5(TSC1):c.435G>T (p.Gln145His) rs1195580419
NM_000368.5(TSC1):c.436T>C (p.Ser146Pro)
NM_000368.5(TSC1):c.439G>A (p.Gly147Arg)
NM_000368.5(TSC1):c.43G>A (p.Asp15Asn) rs1554821020
NM_000368.5(TSC1):c.43G>T (p.Asp15Tyr)
NM_000368.5(TSC1):c.43del (p.Asp15fs)
NM_000368.5(TSC1):c.440G>C (p.Gly147Ala) rs1846675803
NM_000368.5(TSC1):c.442A>T (p.Lys148Ter) rs2132189676
NM_000368.5(TSC1):c.444A>G (p.Lys148=) rs2132189552
NM_000368.5(TSC1):c.445C>G (p.Gln149Glu) rs118203384
NM_000368.5(TSC1):c.445C>T (p.Gln149Ter) rs118203384
NM_000368.5(TSC1):c.447G>A (p.Gln149=)
NM_000368.5(TSC1):c.448C>T (p.His150Tyr) rs1060503206
NM_000368.5(TSC1):c.449A>G (p.His150Arg)
NM_000368.5(TSC1):c.44_58del (p.Asp15_Leu19del) rs1847036151
NM_000368.5(TSC1):c.450T>C (p.His150=)
NM_000368.5(TSC1):c.452T>G (p.Leu151Arg) rs2132189225
NM_000368.5(TSC1):c.460T>A (p.Phe154Ile) rs1485129708
NM_000368.5(TSC1):c.461del (p.Phe154fs) rs1588350477
NM_000368.5(TSC1):c.462C>G (p.Phe154Leu)
NM_000368.5(TSC1):c.468C>T (p.Asp156=) rs1588350435
NM_000368.5(TSC1):c.469A>G (p.Ile157Val) rs1846673273
NM_000368.5(TSC1):c.470T>C (p.Ile157Thr) rs2132188270
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser) rs118203385
NM_000368.5(TSC1):c.475G>A (p.Gly159Ser) rs1846672854
NM_000368.5(TSC1):c.476G>A (p.Gly159Asp) rs2132187882
NM_000368.5(TSC1):c.477C>T (p.Gly159=) rs2132187799
NM_000368.5(TSC1):c.478C>T (p.Arg160Cys) rs1554819886
NM_000368.5(TSC1):c.479G>C (p.Arg160Pro)
NM_000368.5(TSC1):c.47C>A (p.Ser16Tyr)
NM_000368.5(TSC1):c.47C>T (p.Ser16Phe) rs774900322
NM_000368.5(TSC1):c.480T>A (p.Arg160=)
NM_000368.5(TSC1):c.480T>G (p.Arg160=)
NM_000368.5(TSC1):c.481C>T (p.Leu161=) rs1846672288
NM_000368.5(TSC1):c.482T>A (p.Leu161Gln)
NM_000368.5(TSC1):c.482T>C (p.Leu161Pro) rs1846672141
NM_000368.5(TSC1):c.483G>A (p.Leu161=)
NM_000368.5(TSC1):c.484T>C (p.Ser162Pro) rs1060503205
NM_000368.5(TSC1):c.484_498del (p.Ser162_Leu166del)
NM_000368.5(TSC1):c.486del (p.Ser163fs) rs2132187252
NM_000368.5(TSC1):c.488C>G (p.Ser163Ter)
NM_000368.5(TSC1):c.488C>T (p.Ser163Leu)
NM_000368.5(TSC1):c.489A>G (p.Ser163=) rs118203386
NM_000368.5(TSC1):c.489A>T (p.Ser163=) rs118203386
NM_000368.5(TSC1):c.490T>C (p.Trp164Arg) rs1353861668
NM_000368.5(TSC1):c.491G>T (p.Trp164Leu) rs118203387
NM_000368.5(TSC1):c.492G>A (p.Trp164Ter) rs1554819870
NM_000368.5(TSC1):c.492G>C (p.Trp164Cys) rs1554819870
NM_000368.5(TSC1):c.495C>G (p.Cys165Trp)
NM_000368.5(TSC1):c.495C>T (p.Cys165=) rs118203388
NM_000368.5(TSC1):c.496C>G (p.Leu166Val)
NM_000368.5(TSC1):c.497T>C (p.Leu166Pro)
NM_000368.5(TSC1):c.4G>A (p.Ala2Thr)
NM_000368.5(TSC1):c.503A>G (p.Lys168Arg) rs1007335343
NM_000368.5(TSC1):c.506C>A (p.Pro169Gln)
NM_000368.5(TSC1):c.507A>G (p.Pro169=) rs1846669296
NM_000368.5(TSC1):c.507del (p.Gly170fs) rs1846669447
NM_000368.5(TSC1):c.508+13T>C
NM_000368.5(TSC1):c.508+14C>G
NM_000368.5(TSC1):c.508+1G>A rs118203390
NM_000368.5(TSC1):c.508+1G>C rs118203390
NM_000368.5(TSC1):c.508+2T>C rs2132185885
NM_000368.5(TSC1):c.508+5A>G
NM_000368.5(TSC1):c.508+6G>A rs1846668717
NM_000368.5(TSC1):c.508+6G>C rs1846668717
NM_000368.5(TSC1):c.508+7A>T rs1846668543
NM_000368.5(TSC1):c.508+8T>C rs2132185556
NM_000368.5(TSC1):c.508+9C>A rs528772865
NM_000368.5(TSC1):c.508+9C>T
NM_000368.5(TSC1):c.509-10C>A rs780670013
NM_000368.5(TSC1):c.509-14G>A
NM_000368.5(TSC1):c.509-14G>T rs984165284
NM_000368.5(TSC1):c.509-15G>A rs118203391
NM_000368.5(TSC1):c.509-15_509-14delinsCT rs2132163342
NM_000368.5(TSC1):c.509-17A>G
NM_000368.5(TSC1):c.509-18A>G rs953918061
NM_000368.5(TSC1):c.509-1G>A rs1554819620
NM_000368.5(TSC1):c.509-1G>C rs1554819620
NM_000368.5(TSC1):c.509-4C>G rs2132162807
NM_000368.5(TSC1):c.509-5T>C rs1846593189
NM_000368.5(TSC1):c.509-5T>G rs1846593189
NM_000368.5(TSC1):c.509-9C>G rs1275897593
NM_000368.5(TSC1):c.509-9del rs1436371020
NM_000368.5(TSC1):c.513_514insT (p.Val172fs)
NM_000368.5(TSC1):c.514G>C (p.Val172Leu) rs952813051
NM_000368.5(TSC1):c.515T>A (p.Val172Glu) rs751092692
NM_000368.5(TSC1):c.516G>A (p.Val172=) rs1419763219
NM_000368.5(TSC1):c.519G>A (p.Ala173=) rs768999400
NM_000368.5(TSC1):c.51C>T (p.Pro17=) rs768175095
NM_000368.5(TSC1):c.521A>G (p.Glu174Gly) rs1588347661
NM_000368.5(TSC1):c.522A>G (p.Glu174=)
NM_000368.5(TSC1):c.523G>T (p.Val175Phe) rs1564498330
NM_000368.5(TSC1):c.525C>G (p.Val175=) rs2132161260
NM_000368.5(TSC1):c.526del (p.Tyr176fs) rs2132161209
NM_000368.5(TSC1):c.526dup (p.Tyr176fs) rs2132161155
NM_000368.5(TSC1):c.528T>C (p.Tyr176=)
NM_000368.5(TSC1):c.529C>T (p.Leu177Phe) rs2132160788
NM_000368.5(TSC1):c.52A>G (p.Met18Val)
NM_000368.5(TSC1):c.52A>T (p.Met18Leu)
NM_000368.5(TSC1):c.532G>T (p.Val178Phe)
NM_000368.5(TSC1):c.533T>G (p.Val178Gly)
NM_000368.5(TSC1):c.535C>T (p.His179Tyr) rs1846589515
NM_000368.5(TSC1):c.539T>C (p.Leu180Pro) rs118203396
NM_000368.5(TSC1):c.540C>G (p.Leu180=) rs201562103
NM_000368.5(TSC1):c.541C>A (p.His181Asn)
NM_000368.5(TSC1):c.541C>T (p.His181Tyr) rs1057524690
NM_000368.5(TSC1):c.542A>C (p.His181Pro) rs397515294
NM_000368.5(TSC1):c.542A>G (p.His181Arg) rs397515294
NM_000368.5(TSC1):c.543T>A (p.His181Gln) rs762139762
NM_000368.5(TSC1):c.544G>A (p.Ala182Thr) rs2132159449
NM_000368.5(TSC1):c.545C>T (p.Ala182Val)
NM_000368.5(TSC1):c.548G>C (p.Ser183Thr) rs1554819580
NM_000368.5(TSC1):c.549T>C (p.Ser183=) rs774398322
NM_000368.5(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.5(TSC1):c.550G>A (p.Val184Met)
NM_000368.5(TSC1):c.551T>C (p.Val184Ala)
NM_000368.5(TSC1):c.552G>A (p.Val184=) rs118203397
NM_000368.5(TSC1):c.555C>A (p.Tyr185Ter) rs118203398
NM_000368.5(TSC1):c.555C>G (p.Tyr185Ter) rs118203398
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr) rs1279777367
NM_000368.5(TSC1):c.556G>C (p.Ala186Pro)
NM_000368.5(TSC1):c.556G>T (p.Ala186Ser) rs1279777367
NM_000368.5(TSC1):c.557C>T (p.Ala186Val)
NM_000368.5(TSC1):c.558A>G (p.Ala186=) rs2132158268
NM_000368.5(TSC1):c.558_559dup (p.Leu187fs)
NM_000368.5(TSC1):c.559C>G (p.Leu187Val) rs2132158182
NM_000368.5(TSC1):c.559C>T (p.Leu187Phe) rs2132158182
NM_000368.5(TSC1):c.560T>A (p.Leu187His) rs2132158100
NM_000368.5(TSC1):c.561C>G (p.Leu187=) rs2132158033
NM_000368.5(TSC1):c.561C>T (p.Leu187=) rs2132158033
NM_000368.5(TSC1):c.561_562del (p.Phe188fs)
NM_000368.5(TSC1):c.561_562dup (p.Phe188fs) rs2132157980
NM_000368.5(TSC1):c.562T>G (p.Phe188Val)
NM_000368.5(TSC1):c.564T>C (p.Phe188=) rs2132157821
NM_000368.5(TSC1):c.564del (p.His189fs)
NM_000368.5(TSC1):c.566A>T (p.His189Leu) rs2132157644
NM_000368.5(TSC1):c.567T>C (p.His189=) rs2132157565
NM_000368.5(TSC1):c.568C>A (p.Arg190Ser)
NM_000368.5(TSC1):c.569_570delinsCT (p.Arg190Pro) rs2132157246
NM_000368.5(TSC1):c.571C>A (p.Leu191Ile) rs1846585825
NM_000368.5(TSC1):c.571C>T (p.Leu191Phe)
NM_000368.5(TSC1):c.572T>A (p.Leu191His) rs118203403
NM_000368.5(TSC1):c.572T>G (p.Leu191Arg) rs118203403
NM_000368.5(TSC1):c.573T>G (p.Leu191=)
NM_000368.5(TSC1):c.574del (p.Tyr192fs) rs1846585365
NM_000368.5(TSC1):c.576T>C (p.Tyr192=) rs118203406
NM_000368.5(TSC1):c.579A>T (p.Gly193=) rs1846584403
NM_000368.5(TSC1):c.57G>C (p.Leu19=) rs2132295317
NM_000368.5(TSC1):c.580A>C (p.Met194Leu) rs1588347278
NM_000368.5(TSC1):c.581T>C (p.Met194Thr) rs746188529
NM_000368.5(TSC1):c.581T>G (p.Met194Arg) rs746188529
NM_000368.5(TSC1):c.582_583dup (p.Tyr195fs) rs2132156045
NM_000368.5(TSC1):c.585C>G (p.Tyr195Ter) rs118203407
NM_000368.5(TSC1):c.585C>T (p.Tyr195=) rs118203407
NM_000368.5(TSC1):c.587C>T (p.Pro196Leu)
NM_000368.5(TSC1):c.587del (p.Pro196fs) rs796053464
NM_000368.5(TSC1):c.58G>A (p.Gly20Ser) rs2132295199
NM_000368.5(TSC1):c.58G>C (p.Gly20Arg) rs2132295199
NM_000368.5(TSC1):c.597C>G (p.Phe199Leu) rs202242304
NM_000368.5(TSC1):c.598G>T (p.Val200Phe) rs118203410
NM_000368.5(TSC1):c.599dup (p.Ser201fs) rs118203411
NM_000368.5(TSC1):c.59G>A (p.Gly20Asp) rs2132295150
NM_000368.5(TSC1):c.59G>C (p.Gly20Ala)
NM_000368.5(TSC1):c.59del (p.Gly20fs)
NM_000368.5(TSC1):c.5C>T (p.Ala2Val) rs1588363746
NM_000368.5(TSC1):c.602C>T (p.Ser201Phe) rs1564498038
NM_000368.5(TSC1):c.603C>A (p.Ser201=) rs777571943
NM_000368.5(TSC1):c.607T>G (p.Leu203Val)
NM_000368.5(TSC1):c.608del (p.Leu203fs)
NM_000368.5(TSC1):c.60T>G (p.Gly20=) rs1293816362
NM_000368.5(TSC1):c.610C>T (p.Arg204Cys) rs1060505021
NM_000368.5(TSC1):c.611G>A (p.Arg204His) rs397514834
NM_000368.5(TSC1):c.611G>C (p.Arg204Pro) rs397514834
NM_000368.5(TSC1):c.611G>T (p.Arg204Leu)
NM_000368.5(TSC1):c.617A>G (p.His206Arg) rs1846579352
NM_000368.5(TSC1):c.621C>T (p.Tyr207=)
NM_000368.5(TSC1):c.623G>C (p.Ser208Thr) rs1264782606
NM_000368.5(TSC1):c.625A>C (p.Met209Leu)
NM_000368.5(TSC1):c.625A>T (p.Met209Leu) rs754980229
NM_000368.5(TSC1):c.633A>G (p.Glu211=) rs753550247
NM_000368.5(TSC1):c.634_635del (p.Asn212fs) rs1846577619
NM_000368.5(TSC1):c.636C>T (p.Asn212=)
NM_000368.5(TSC1):c.637C>G (p.Leu213Val) rs999904570
NM_000368.5(TSC1):c.637C>T (p.Leu213=) rs999904570
NM_000368.5(TSC1):c.638T>C (p.Leu213Pro)
NM_000368.5(TSC1):c.639G>A (p.Leu213=) rs2132151091
NM_000368.5(TSC1):c.640G>A (p.Glu214Lys) rs1846577095
NM_000368.5(TSC1):c.642G>A (p.Glu214=)
NM_000368.5(TSC1):c.642G>T (p.Glu214Asp) rs904190788
NM_000368.5(TSC1):c.643A>G (p.Thr215Ala) rs2132150727
NM_000368.5(TSC1):c.647T>C (p.Phe216Ser) rs118203416
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer) rs118203417
NM_000368.5(TSC1):c.648_649insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACCTGGAGACTTTT (p.Glu217delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_000368.5(TSC1):c.648del (p.Phe216fs) rs118203417
NM_000368.5(TSC1):c.649G>C (p.Glu217Gln) rs2132150199
NM_000368.5(TSC1):c.64C>A (p.Arg22=)
NM_000368.5(TSC1):c.651_663dup (p.Pro222fs) rs1554819509
NM_000368.5(TSC1):c.654A>C (p.Glu218Asp)
NM_000368.5(TSC1):c.657G>A (p.Val219=) rs755910789
NM_000368.5(TSC1):c.657G>T (p.Val219=) rs755910789
NM_000368.5(TSC1):c.658G>A (p.Val220Ile)
NM_000368.5(TSC1):c.659T>G (p.Val220Gly)
NM_000368.5(TSC1):c.65G>C (p.Arg22Pro) rs141736779
NM_000368.5(TSC1):c.660C>G (p.Val220=) rs1588346808
NM_000368.5(TSC1):c.660C>T (p.Val220=) rs1588346808
NM_000368.5(TSC1):c.660_663+2del
NM_000368.5(TSC1):c.661A>G (p.Lys221Glu)
NM_000368.5(TSC1):c.663+11A>G rs2132148438
NM_000368.5(TSC1):c.663+13T>C
NM_000368.5(TSC1):c.663+13T>G rs1846572826
NM_000368.5(TSC1):c.663+14G>C rs2132148240
NM_000368.5(TSC1):c.663+16T>C rs2132148143
NM_000368.5(TSC1):c.663+18G>A rs1304956665
NM_000368.5(TSC1):c.663+1G>A rs118203419
NM_000368.5(TSC1):c.663+20T>C rs2132147919
NM_000368.5(TSC1):c.663+2T>C
NM_000368.5(TSC1):c.663+7T>C rs118203420
NM_000368.5(TSC1):c.663+7T>G rs118203420
NM_000368.5(TSC1):c.663+9A>G rs1240986386
NM_000368.5(TSC1):c.663G>A (p.Lys221=) rs868715706
NM_000368.5(TSC1):c.664-10A>G rs1588345946
NM_000368.5(TSC1):c.664-11A>G
NM_000368.5(TSC1):c.664-11A>T
NM_000368.5(TSC1):c.664-12C>T
NM_000368.5(TSC1):c.664-14C>G
NM_000368.5(TSC1):c.664-15A>G rs118203422
NM_000368.5(TSC1):c.664-16A>T
NM_000368.5(TSC1):c.664-17C>T
NM_000368.5(TSC1):c.664-18T>C rs2132139374
NM_000368.5(TSC1):c.664-1G>A rs118203423
NM_000368.5(TSC1):c.664-1G>C rs118203423
NM_000368.5(TSC1):c.664-2A>G rs1846550204
NM_000368.5(TSC1):c.664-4C>G rs2132138750
NM_000368.5(TSC1):c.664-6T>C rs1588345922
NM_000368.5(TSC1):c.664-7C>T rs2132138899
NM_000368.5(TSC1):c.664-9C>T rs757752536
NM_000368.5(TSC1):c.664C>G (p.Pro222Ala)
NM_000368.5(TSC1):c.667A>G (p.Met223Val) rs2132138226
NM_000368.5(TSC1):c.66G>A (p.Arg22=) rs2132294888
NM_000368.5(TSC1):c.671T>A (p.Met224Lys) rs118203426
NM_000368.5(TSC1):c.671T>C (p.Met224Thr) rs118203426
NM_000368.5(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000368.5(TSC1):c.673G>T (p.Glu225Ter)
NM_000368.5(TSC1):c.675G>A (p.Glu225=) rs1846548662
NM_000368.5(TSC1):c.676C>G (p.His226Asp) rs2132137589
NM_000368.5(TSC1):c.676C>T (p.His226Tyr) rs2132137589
NM_000368.5(TSC1):c.678T>A (p.His226Gln) rs2132137496
NM_000368.5(TSC1):c.678T>G (p.His226Gln)
NM_000368.5(TSC1):c.679G>A (p.Val227Met)
NM_000368.5(TSC1):c.679G>C (p.Val227Leu) rs1846548148
NM_000368.5(TSC1):c.680T>A (p.Val227Glu) rs1264542706
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.5(TSC1):c.683G>A (p.Arg228Gln) rs1223799508
NM_000368.5(TSC1):c.689A>G (p.His230Arg) rs1588345775
NM_000368.5(TSC1):c.68A>G (p.Asp23Gly) rs1847034874
NM_000368.5(TSC1):c.690T>C (p.His230=) rs2132136607
NM_000368.5(TSC1):c.692C>G (p.Pro231Arg) rs1322586198
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu) rs1322586198
NM_000368.5(TSC1):c.693G>A (p.Pro231=) rs749311040
NM_000368.5(TSC1):c.694G>A (p.Glu232Lys) rs118203429
NM_000368.5(TSC1):c.694G>C (p.Glu232Gln)
NM_000368.5(TSC1):c.694G>T (p.Glu232Ter) rs118203429
NM_000368.5(TSC1):c.696A>G (p.Glu232=) rs1588345709
NM_000368.5(TSC1):c.698T>G (p.Leu233Ter) rs1846545578
NM_000368.5(TSC1):c.704C>T (p.Thr235Ile)
NM_000368.5(TSC1):c.708A>G (p.Gly236=) rs2132135313
NM_000368.5(TSC1):c.710C>A (p.Ser237Tyr)
NM_000368.5(TSC1):c.710C>T (p.Ser237Phe)
NM_000368.5(TSC1):c.711C>T (p.Ser237=) rs1588345678
NM_000368.5(TSC1):c.712A>G (p.Lys238Glu)
NM_000368.5(TSC1):c.713A>G (p.Lys238Arg) rs2132134825
NM_000368.5(TSC1):c.714G>A (p.Lys238=) rs2132134730
NM_000368.5(TSC1):c.716A>G (p.Asp239Gly)
NM_000368.5(TSC1):c.720T>C (p.His240=)
NM_000368.5(TSC1):c.721G>T (p.Glu241Ter) rs2132134052
NM_000368.5(TSC1):c.722A>G (p.Glu241Gly)
NM_000368.5(TSC1):c.723A>G (p.Glu241=)
NM_000368.5(TSC1):c.724C>T (p.Leu242=) rs118203432
NM_000368.5(TSC1):c.725T>C (p.Leu242Pro) rs1554819388
NM_000368.5(TSC1):c.726G>C (p.Leu242=) rs2132133780
NM_000368.5(TSC1):c.731C>T (p.Pro244Leu) rs2132133357
NM_000368.5(TSC1):c.731del (p.Pro244fs) rs1846543630
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.734G>C (p.Arg245Pro) rs755859330
NM_000368.5(TSC1):c.734dup (p.Arg246fs) rs1588345595
NM_000368.5(TSC1):c.737+10C>G rs1554819375
NM_000368.5(TSC1):c.737+10C>T rs1554819375
NM_000368.5(TSC1):c.737+12A>G
NM_000368.5(TSC1):c.737+13G>A rs1057522693
NM_000368.5(TSC1):c.737+17del
NM_000368.5(TSC1):c.737+19A>G rs1162425973
NM_000368.5(TSC1):c.737+1G>A rs118203438
NM_000368.5(TSC1):c.737+20A>C rs764271835
NM_000368.5(TSC1):c.737+2T>C rs1564497308
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_000368.5(TSC1):c.737+4T>C rs1487527846
NM_000368.5(TSC1):c.737+8A>T
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.5(TSC1):c.738-11G>A rs2132007936
NM_000368.5(TSC1):c.738-12T>G rs2132008003
NM_000368.5(TSC1):c.738-16T>C rs2132008163
NM_000368.5(TSC1):c.738-18T>G rs2132008244
NM_000368.5(TSC1):c.738-19C>T
NM_000368.5(TSC1):c.738-1G>A rs1564490210
NM_000368.5(TSC1):c.738-1G>C rs1564490210
NM_000368.5(TSC1):c.738-2A>G rs118203440
NM_000368.5(TSC1):c.738-2A>T rs118203440
NM_000368.5(TSC1):c.738-2_740del rs1554817707
NM_000368.5(TSC1):c.738-9A>G rs1846021685
NM_000368.5(TSC1):c.740G>A (p.Trp247Ter) rs1846020610
NM_000368.5(TSC1):c.745A>C (p.Arg249=)
NM_000368.5(TSC1):c.746G>A (p.Arg249Lys)
NM_000368.5(TSC1):c.749T>A (p.Leu250Ter) rs118203447
NM_000368.5(TSC1):c.749T>C (p.Leu250Ser) rs118203447
NM_000368.5(TSC1):c.74T>G (p.Val25Gly)
NM_000368.5(TSC1):c.74dup (p.Thr26fs) rs886041959
NM_000368.5(TSC1):c.750A>G (p.Leu250=) rs2132006420
NM_000368.5(TSC1):c.751G>T (p.Glu251Ter) rs1554817691
NM_000368.5(TSC1):c.752A>G (p.Glu251Gly)
NM_000368.5(TSC1):c.755C>T (p.Thr252Ile) rs1232152905
NM_000368.5(TSC1):c.756T>G (p.Thr252=) rs2132006065
NM_000368.5(TSC1):c.759T>A (p.His253Gln) rs748775797
NM_000368.5(TSC1):c.760G>A (p.Asp254Asn)
NM_000368.5(TSC1):c.761A>G (p.Asp254Gly) rs1846018773
NM_000368.5(TSC1):c.762T>A (p.Asp254Glu) rs780005416
NM_000368.5(TSC1):c.765T>G (p.Val255=) rs1588327624
NM_000368.5(TSC1):c.769_776del (p.Ile257fs) rs1554817676
NM_000368.5(TSC1):c.770T>A (p.Ile257Asn) rs745640752
NM_000368.5(TSC1):c.771C>A (p.Ile257=) rs1060504854
NM_000368.5(TSC1):c.771C>G (p.Ile257Met) rs1060504854
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter) rs118203450
NM_000368.5(TSC1):c.773_774insTA (p.Glu258fs) rs2132004661
NM_000368.5(TSC1):c.775T>C (p.Cys259Arg) rs1191767597
NM_000368.5(TSC1):c.776G>A (p.Cys259Tyr) rs1459280532
NM_000368.5(TSC1):c.779C>T (p.Ala260Val) rs758617649
NM_000368.5(TSC1):c.780C>T (p.Ala260=) rs2132003938
NM_000368.5(TSC1):c.786C>A (p.Ile262=)
NM_000368.5(TSC1):c.786C>T (p.Ile262=) rs779015004
NM_000368.5(TSC1):c.789T>C (p.Ser263=) rs2132003258
NM_000368.5(TSC1):c.790C>G (p.Leu264Val)
NM_000368.5(TSC1):c.792G>A (p.Leu264=) rs1257538409
NM_000368.5(TSC1):c.797C>T (p.Pro266Leu) rs1554817662
NM_000368.5(TSC1):c.798del (p.Thr267fs)
NM_000368.5(TSC1):c.79G>C (p.Ala27Pro) rs1847033606
NM_000368.5(TSC1):c.7C>T (p.Gln3Ter)
NM_000368.5(TSC1):c.805G>A (p.Ala269Thr)
NM_000368.5(TSC1):c.806C>A (p.Ala269Asp) rs1347033062
NM_000368.5(TSC1):c.807C>T (p.Ala269=)
NM_000368.5(TSC1):c.808T>G (p.Ser270Ala)
NM_000368.5(TSC1):c.809C>G (p.Ser270Ter)
NM_000368.5(TSC1):c.811T>C (p.Tyr271His)
NM_000368.5(TSC1):c.812_813del (p.Ser270_Tyr271insTer) rs118203451
NM_000368.5(TSC1):c.813T>C (p.Tyr271=) rs118203452
NM_000368.5(TSC1):c.813T>G (p.Tyr271Ter) rs118203452
NM_000368.5(TSC1):c.814G>A (p.Glu272Lys) rs397514872
NM_000368.5(TSC1):c.816A>G (p.Glu272=) rs2132001195
NM_000368.5(TSC1):c.817_824del (p.Asp273fs)
NM_000368.5(TSC1):c.818A>T (p.Asp273Val)
NM_000368.5(TSC1):c.819T>C (p.Asp273=) rs148756522
NM_000368.5(TSC1):c.81T>C (p.Ala27=) rs1588363327
NM_000368.5(TSC1):c.820G>A (p.Gly274Ser) rs1389310342
NM_000368.5(TSC1):c.821G>C (p.Gly274Ala)
NM_000368.5(TSC1):c.824A>G (p.Tyr275Cys) rs1554817636
NM_000368.5(TSC1):c.825T>C (p.Tyr275=)
NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter) rs118203454
NM_000368.5(TSC1):c.827C>T (p.Ser276Phe) rs1846012269
NM_000368.5(TSC1):c.828T>A (p.Ser276=) rs1588327195
NM_000368.5(TSC1):c.828T>C (p.Ser276=)
NM_000368.5(TSC1):c.82G>C (p.Val28Leu) rs1588363318
NM_000368.5(TSC1):c.831del (p.Ser278fs) rs1846011821
NM_000368.5(TSC1):c.837C>A (p.His279Gln)
NM_000368.5(TSC1):c.838C>G (p.Gln280Glu) rs118203458
NM_000368.5(TSC1):c.839A>G (p.Gln280Arg)
NM_000368.5(TSC1):c.840A>C (p.Gln280His) rs1171852730
NM_000368.5(TSC1):c.841A>C (p.Ile281Leu) rs2131999104
NM_000368.5(TSC1):c.844T>G (p.Ser282Ala)
NM_000368.5(TSC1):c.845C>T (p.Ser282Leu) rs118203459
NM_000368.5(TSC1):c.846A>G (p.Ser282=) rs768226293
NM_000368.5(TSC1):c.846del (p.Ala283fs) rs1846010451
NM_000368.5(TSC1):c.848C>T (p.Ala283Val) rs1554817613
NM_000368.5(TSC1):c.850C>A (p.Arg284Ser) rs140544652
NM_000368.5(TSC1):c.850dup (p.Arg284fs) rs1554817612
NM_000368.5(TSC1):c.851G>T (p.Arg284Leu) rs151309813
NM_000368.5(TSC1):c.852C>T (p.Arg284=) rs769706203
NM_000368.5(TSC1):c.856C>G (p.Pro286Ala) rs1047485135
NM_000368.5(TSC1):c.856C>T (p.Pro286Ser) rs1047485135
NM_000368.5(TSC1):c.857del (p.Pro286fs)
NM_000368.5(TSC1):c.862C>G (p.Arg288Gly) rs770653972
NM_000368.5(TSC1):c.863G>C (p.Arg288Pro)
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter) rs397514867
NM_000368.5(TSC1):c.867A>G (p.Ser289=) rs1588326877
NM_000368.5(TSC1):c.869C>T (p.Ala290Val) rs1846007897
NM_000368.5(TSC1):c.86_90dup (p.Glu31fs) rs1564504869
NM_000368.5(TSC1):c.870C>G (p.Ala290=) rs779155575
NM_000368.5(TSC1):c.870C>T (p.Ala290=) rs779155575
NM_000368.5(TSC1):c.871_886dup (p.Pro296fs) rs1588326629
NM_000368.5(TSC1):c.874G>A (p.Val292Ile) rs1588326825
NM_000368.5(TSC1):c.876C>G (p.Val292=) rs116756594
NM_000368.5(TSC1):c.877A>G (p.Thr293Ala) rs2131996111
NM_000368.5(TSC1):c.878C>G (p.Thr293Ser) rs756681916
NM_000368.5(TSC1):c.878C>T (p.Thr293Ile) rs756681916
NM_000368.5(TSC1):c.879C>T (p.Thr293=) rs1554817584
NM_000368.5(TSC1):c.880A>T (p.Thr294Ser) rs1588326742
NM_000368.5(TSC1):c.881C>A (p.Thr294Asn) rs878853969
NM_000368.5(TSC1):c.881C>T (p.Thr294Ile) rs878853969
NM_000368.5(TSC1):c.882C>T (p.Thr294=) rs1588326689
NM_000368.5(TSC1):c.883A>G (p.Ser295Gly) rs1588326679
NM_000368.5(TSC1):c.883A>T (p.Ser295Cys) rs1588326679
NM_000368.5(TSC1):c.884G>T (p.Ser295Ile)
NM_000368.5(TSC1):c.885C>G (p.Ser295Arg) rs973115696
NM_000368.5(TSC1):c.885C>T (p.Ser295=)
NM_000368.5(TSC1):c.886C>T (p.Pro296Ser) rs750890263
NM_000368.5(TSC1):c.887C>T (p.Pro296Leu) rs1846005037
NM_000368.5(TSC1):c.888T>C (p.Pro296=)
NM_000368.5(TSC1):c.890A>C (p.Tyr297Ser)
NM_000368.5(TSC1):c.891T>C (p.Tyr297=) rs118203461
NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter) rs118203461
NM_000368.5(TSC1):c.891del (p.Pro296_Tyr297insTer) rs1846004910
NM_000368.5(TSC1):c.892G>A (p.Ala298Thr) rs1846004547
NM_000368.5(TSC1):c.895G>A (p.Asp299Asn)
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala) rs796053456
NM_000368.5(TSC1):c.899C>A (p.Thr300Lys)
NM_000368.5(TSC1):c.900A>G (p.Thr300=) rs2131994220
NM_000368.5(TSC1):c.901C>T (p.Gln301Ter) rs118203463
NM_000368.5(TSC1):c.901_902del (p.Gln301fs) rs118203464
NM_000368.5(TSC1):c.902A>G (p.Gln301Arg) rs1389512342
NM_000368.5(TSC1):c.903G>A (p.Gln301=) rs762200890
NM_000368.5(TSC1):c.90A>G (p.Lys30=) rs1847032608
NM_000368.5(TSC1):c.910T>A (p.Tyr304Asn) rs1588326467
NM_000368.5(TSC1):c.911A>G (p.Tyr304Cys)
NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter) rs118203466
NM_000368.5(TSC1):c.913+10G>A rs2131992961
NM_000368.5(TSC1):c.913+11T>G rs1846001522
NM_000368.5(TSC1):c.913+15T>C
NM_000368.5(TSC1):c.913+17G>C rs762571446
NM_000368.5(TSC1):c.913+17G>T rs762571446
NM_000368.5(TSC1):c.913+18T>C
NM_000368.5(TSC1):c.913+19A>G rs2131992657
NM_000368.5(TSC1):c.913+1G>A rs118203470
NM_000368.5(TSC1):c.913+1G>T rs118203470
NM_000368.5(TSC1):c.913+20C>G
NM_000368.5(TSC1):c.913+20C>T
NM_000368.5(TSC1):c.913+2T>A
NM_000368.5(TSC1):c.913+2T>G
NM_000368.5(TSC1):c.913+3A>G rs1846002381
NM_000368.5(TSC1):c.913+4A>C rs1178304676
NM_000368.5(TSC1):c.913+7A>C rs2131993085
NM_000368.5(TSC1):c.913+8G>A
NM_000368.5(TSC1):c.913+8G>C rs763784439
NM_000368.5(TSC1):c.913+9T>A rs1588326345
NM_000368.5(TSC1):c.913+9T>C rs1588326345
NM_000368.5(TSC1):c.914-10T>C rs1554817441
NM_000368.5(TSC1):c.914-11T>C rs745979259
NM_000368.5(TSC1):c.914-14C>G rs2131983247
NM_000368.5(TSC1):c.914-15_914-13del
NM_000368.5(TSC1):c.914-16T>C
NM_000368.5(TSC1):c.914-20G>C rs1588325085
NM_000368.5(TSC1):c.914-3T>C rs781756453
NM_000368.5(TSC1):c.914-4T>G rs2131982922
NM_000368.5(TSC1):c.914-7A>G rs1588325018
NM_000368.5(TSC1):c.915G>A (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.915G>T (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.916T>C (p.Cys306Arg) rs34876281
NM_000368.5(TSC1):c.917G>T (p.Cys306Phe)
NM_000368.5(TSC1):c.918T>C (p.Cys306=) rs34610255
NM_000368.5(TSC1):c.91G>C (p.Glu31Gln) rs1847032440
NM_000368.5(TSC1):c.920C>T (p.Ala307Val) rs572611259
NM_000368.5(TSC1):c.921T>G (p.Ala307=)
NM_000368.5(TSC1):c.922A>G (p.Thr308Ala) rs1845965349
NM_000368.5(TSC1):c.923C>A (p.Thr308Asn) rs1554817432
NM_000368.5(TSC1):c.924T>C (p.Thr308=)
NM_000368.5(TSC1):c.929C>T (p.Thr310Ile) rs1588324860
NM_000368.5(TSC1):c.92del (p.Glu31fs)
NM_000368.5(TSC1):c.931C>A (p.Pro311Thr) rs1332186256
NM_000368.5(TSC1):c.931C>G (p.Pro311Ala) rs1332186256
NM_000368.5(TSC1):c.931C>T (p.Pro311Ser)
NM_000368.5(TSC1):c.932C>A (p.Pro311His) rs776158460
NM_000368.5(TSC1):c.932C>T (p.Pro311Leu) rs776158460
NM_000368.5(TSC1):c.932del (p.Pro311fs)
NM_000368.5(TSC1):c.934T>C (p.Tyr312His) rs1845964220
NM_000368.5(TSC1):c.935A>C (p.Tyr312Ser) rs1588324803
NM_000368.5(TSC1):c.935A>G (p.Tyr312Cys) rs1588324803
NM_000368.5(TSC1):c.936C>T (p.Tyr312=)
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe) rs766317920
NM_000368.5(TSC1):c.93G>A (p.Glu31=)
NM_000368.5(TSC1):c.93G>T (p.Glu31Asp) rs781059342
NM_000368.5(TSC1):c.940A>G (p.Thr314Ala) rs1845963270
NM_000368.5(TSC1):c.941C>G (p.Thr314Arg)
NM_000368.5(TSC1):c.942G>T (p.Thr314=) rs144208203
NM_000368.5(TSC1):c.945dup (p.Arg316fs) rs2131980428
NM_000368.5(TSC1):c.947G>T (p.Arg316Leu) rs375956049
NM_000368.5(TSC1):c.949C>A (p.Leu317Met) rs1588324686
NM_000368.5(TSC1):c.949C>T (p.Leu317=) rs1588324686
NM_000368.5(TSC1):c.951G>A (p.Leu317=) rs1554817419
NM_000368.5(TSC1):c.952A>T (p.Met318Leu) rs1392501159
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000368.5(TSC1):c.955T>G (p.Leu319Val) rs1845961614
NM_000368.5(TSC1):c.957G>A (p.Leu319=) rs1845961446
NM_000368.5(TSC1):c.957G>C (p.Leu319Phe)
NM_000368.5(TSC1):c.95A>G (p.Asn32Ser) rs1222555421
NM_000368.5(TSC1):c.962A>C (p.Asn321Thr)
NM_000368.5(TSC1):c.963T>A (p.Asn321Lys)
NM_000368.5(TSC1):c.965_966delinsCT (p.Met322Thr) rs1588324568
NM_000368.5(TSC1):c.965_966inv (p.Met322Thr)
NM_000368.5(TSC1):c.965_978del (p.Met322fs) rs1588324435
NM_000368.5(TSC1):c.967C>A (p.Pro323Thr) rs781189978
NM_000368.5(TSC1):c.967C>G (p.Pro323Ala)
NM_000368.5(TSC1):c.969A>G (p.Pro323=) rs1418510093
NM_000368.5(TSC1):c.96C>T (p.Asn32=) rs1588363242
NM_000368.5(TSC1):c.972G>A (p.Gly324=) rs118203473
NM_000368.5(TSC1):c.973C>G (p.Gln325Glu) rs118203474
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter) rs118203474
NM_000368.5(TSC1):c.974A>G (p.Gln325Arg) rs1564488890
NM_000368.5(TSC1):c.975G>A (p.Gln325=) rs1554817398
NM_000368.5(TSC1):c.975G>T (p.Gln325His) rs1554817398
NM_000368.5(TSC1):c.976C>T (p.Leu326=) rs1554817396
NM_000368.5(TSC1):c.978A>G (p.Leu326=) rs1060504862
NM_000368.5(TSC1):c.978_988del (p.Pro327fs)
NM_000368.5(TSC1):c.979C>T (p.Pro327Ser)
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe) rs1847031671
NM_000368.5(TSC1):c.980C>T (p.Pro327Leu)
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter) rs1554817388
NM_000368.5(TSC1):c.984G>A (p.Gln328=) rs2131977316
NM_000368.5(TSC1):c.986C>T (p.Thr329Ile)
NM_000368.5(TSC1):c.988C>A (p.Leu330Met) rs1060503222
NM_000368.5(TSC1):c.988C>T (p.Leu330=) rs1060503222
NM_000368.5(TSC1):c.988_989insGA (p.Leu330fs) rs1564488810
NM_000368.5(TSC1):c.989T>G (p.Leu330Arg) rs1588324325
NM_000368.5(TSC1):c.989_990del (p.Leu330fs) rs118203479
NM_000368.5(TSC1):c.989del (p.Leu330fs) rs397514870
NM_000368.5(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000368.5(TSC1):c.992G>A (p.Ser331Asn) rs2131976184
NM_000368.5(TSC1):c.993T>A (p.Ser331Arg) rs1588324306
NM_000368.5(TSC1):c.993T>C (p.Ser331=) rs1588324306
NM_000368.5(TSC1):c.995C>T (p.Ser332Phe) rs2131975937
NM_000368.5(TSC1):c.996C>T (p.Ser332=) rs1588324281
NM_000368.5(TSC1):c.997C>T (p.Pro333Ser) rs1057520994
NM_000368.5(TSC1):c.997_998del (p.Pro333fs) rs1564488773
NM_000368.5(TSC1):c.998del (p.Pro333fs) rs1564488773
NM_000368.5(TSC1):c.999A>G (p.Pro333=) rs1192409248
NM_000368.5(TSC1):c.99C>T (p.Leu33=) rs757216373
NM_000368.5(TSC1):c.9A>G (p.Gln3=) rs1588363733
NM_001162426.2(TSC1):c.2623-4_2623-3insTG rs2131640739

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