ClinVar Miner

List of variants in gene TSC1 studied for Tuberous sclerosis syndrome

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ClinVar version:
Total variants: 1173
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.2392-35T>C rs11243931 0.20073
NM_000368.5(TSC1):c.1439-37C>T rs10901220 0.16021
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.1334-55C>G rs7872606 0.09429
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000368.5(TSC1):c.2502+51A>G rs75802666 0.04894
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.2976-43G>C rs7853849 0.02474
NM_000368.5(TSC1):c.*107T>C rs116917669 0.02353
NC_000009.12:g.132891337C>T rs79220715 0.01804
NM_000368.5(TSC1):c.*1468C>T rs72759433 0.01681
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.2976-54G>A rs118203740 0.00757
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.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_000368.5(TSC1):c.1263+88A>G rs118203507 0.00250
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.1701G>A (p.Ala567=) rs35478675 0.00155
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
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.*358C>T rs147729052 0.00066
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.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
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.615T>C (p.Ser205=) rs118203414 0.00023
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp) rs118203483 0.00022
NM_000368.5(TSC1):c.1998-53G>A rs368679682 0.00022
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000368.5(TSC1):c.*4248C>T rs886063567 0.00018
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val) rs397514880 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.663+29A>G rs376472527 0.00016
NM_000368.5(TSC1):c.1333+13C>T rs118203516 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.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.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.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.1567G>C (p.Ala523Pro) rs118203548 0.00008
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.3387C>T (p.Ala1129=) rs200200869 0.00007
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.3123C>G (p.Ser1041Arg) rs753374839 0.00006
NM_000368.5(TSC1):c.1110A>T (p.Ser370=) rs371648887 0.00005
NM_000368.5(TSC1):c.231C>T (p.Asn77=) rs397514809 0.00005
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln) rs200514807 0.00005
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser) rs76801599 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.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.110G>A (p.Arg37His) rs750441497 0.00004
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe) rs1461609607 0.00004
NM_000368.5(TSC1):c.1332A>G (p.Ser444=) rs773003016 0.00004
NM_000368.5(TSC1):c.1884A>G (p.Leu628=) rs1038140620 0.00004
NM_000368.5(TSC1):c.1974C>T (p.Asp658=) rs118203608 0.00004
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val) rs118203609 0.00004
NM_000368.5(TSC1):c.2478G>C (p.Leu826=) rs149719514 0.00004
NM_000368.5(TSC1):c.2814-27A>G rs118203738 0.00004
NM_000368.5(TSC1):c.2922C>T (p.Leu974=) rs769389702 0.00004
NM_000368.5(TSC1):c.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
NC_000009.12:g.132944641C>A rs571288003 0.00003
NM_000368.5(TSC1):c.-11C>T rs570705364 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.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.1344T>G (p.Pro448=) rs530908428 0.00003
NM_000368.5(TSC1):c.1439-4T>C rs762473323 0.00003
NM_000368.5(TSC1):c.1635T>C (p.Pro545=) rs372284519 0.00003
NM_000368.5(TSC1):c.1878G>A (p.Glu626=) rs753424167 0.00003
NM_000368.5(TSC1):c.1922C>A (p.Pro641His) rs397514863 0.00003
NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly) rs939275328 0.00003
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln) rs1336228562 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.503A>C (p.Lys168Thr) rs1007335343 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln) rs755859330 0.00003
NM_000368.5(TSC1):c.762T>C (p.Asp254=) rs780005416 0.00003
NM_000368.5(TSC1):c.840A>G (p.Gln280=) rs1171852730 0.00003
NM_000368.5(TSC1):c.87T>C (p.Phe29=) rs745384145 0.00003
NM_000368.5(TSC1):c.932C>G (p.Pro311Arg) rs776158460 0.00003
NM_000368.5(TSC1):c.941C>T (p.Thr314Met) rs373454700 0.00003
NM_000368.5(TSC1):c.942G>A (p.Thr314=) rs144208203 0.00003
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.126A>C (p.Val42=) rs118203335 0.00002
NM_000368.5(TSC1):c.1273A>G (p.Met425Val) rs753199284 0.00002
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val) rs1489175329 0.00002
NM_000368.5(TSC1):c.1439-25C>A rs397514813 0.00002
NM_000368.5(TSC1):c.1584C>T (p.Gly528=) rs149439187 0.00002
NM_000368.5(TSC1):c.167C>T (p.Pro56Leu) rs750512029 0.00002
NM_000368.5(TSC1):c.2034C>T (p.His678=) rs201392975 0.00002
NM_000368.5(TSC1):c.2077G>C (p.Asp693His) rs397514800 0.00002
NM_000368.5(TSC1):c.2115G>A (p.Glu705=) rs142662480 0.00002
NM_000368.5(TSC1):c.2303G>A (p.Arg768His) rs1033725987 0.00002
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe) rs868755168 0.00002
NM_000368.5(TSC1):c.2424G>A (p.Ala808=) rs200651872 0.00002
NM_000368.5(TSC1):c.2776C>G (p.Gln926Glu) rs397514879 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.3396C>T (p.Pro1132=) rs774980129 0.00002
NM_000368.5(TSC1):c.364-7C>T rs775465260 0.00002
NM_000368.5(TSC1):c.370A>G (p.Thr124Ala) rs745871522 0.00002
NM_000368.5(TSC1):c.509-13G>A rs746269100 0.00002
NM_000368.5(TSC1):c.531C>T (p.Leu177=) rs752615412 0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=) rs202242304 0.00002
NM_000368.5(TSC1):c.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.947G>A (p.Arg316Gln) rs375956049 0.00002
NM_000368.4(TSC1):c.-227G>A rs886063629 0.00001
NM_000368.5(TSC1):c.*1519del rs886063607 0.00001
NM_000368.5(TSC1):c.*2949A>T rs886063588 0.00001
NM_000368.5(TSC1):c.*333C>A rs886063618 0.00001
NM_000368.5(TSC1):c.*4845G>T rs886063562 0.00001
NM_000368.5(TSC1):c.1002G>A (p.Ser334=) rs200820603 0.00001
NM_000368.5(TSC1):c.1050T>C (p.Ser350=) rs150777389 0.00001
NM_000368.5(TSC1):c.106+4A>G rs373075566 0.00001
NM_000368.5(TSC1):c.1078A>C (p.Thr360Pro) rs201738258 0.00001
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser) rs397514864 0.00001
NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala) rs1412914051 0.00001
NM_000368.5(TSC1):c.109C>T (p.Arg37Cys) rs1309560054 0.00001
NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala) rs760638759 0.00001
NM_000368.5(TSC1):c.1116T>C (p.Pro372=) rs1311647964 0.00001
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512 0.00001
NM_000368.5(TSC1):c.1144G>A (p.Gly382Ser) rs367564729 0.00001
NM_000368.5(TSC1):c.1166G>A (p.Gly389Glu) rs752575728 0.00001
NM_000368.5(TSC1):c.1191A>G (p.Pro397=) rs370281825 0.00001
NM_000368.5(TSC1):c.1193C>T (p.Ala398Val) rs918660416 0.00001
NM_000368.5(TSC1):c.1200C>G (p.Leu400=) rs767514820 0.00001
NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys) rs143502728 0.00001
NM_000368.5(TSC1):c.121C>T (p.Leu41Phe) rs118203334 0.00001
NM_000368.5(TSC1):c.1233C>T (p.Leu411=) rs1588321365 0.00001
NM_000368.5(TSC1):c.1237C>G (p.Gln413Glu) rs1588321339 0.00001
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg) rs1060503218 0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000368.5(TSC1):c.1257C>G (p.Pro419=) rs369642207 0.00001
NM_000368.5(TSC1):c.1282G>C (p.Ala428Pro) rs1845728007 0.00001
NM_000368.5(TSC1):c.1283C>T (p.Ala428Val) rs1554816420 0.00001
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val) rs199800297 0.00001
NM_000368.5(TSC1):c.133T>C (p.Leu45=) rs755226092 0.00001
NM_000368.5(TSC1):c.135G>A (p.Leu45=) rs149278759 0.00001
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg) rs587778722 0.00001
NM_000368.5(TSC1):c.1439-10T>A rs1060504852 0.00001
NM_000368.5(TSC1):c.1539A>G (p.Pro513=) rs755055358 0.00001
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp) rs118203342 0.00001
NM_000368.5(TSC1):c.1562C>T (p.Ser521Leu) rs759379027 0.00001
NM_000368.5(TSC1):c.1564G>C (p.Ala522Pro) rs1461138345 0.00001
NM_000368.5(TSC1):c.1580A>G (p.Gln527Arg) rs767708806 0.00001
NM_000368.5(TSC1):c.1590C>T (p.Ser530=) rs762424091 0.00001
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr) rs765149885 0.00001
NM_000368.5(TSC1):c.1626G>A (p.Lys542=) rs756935981 0.00001
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu) rs770570830 0.00001
NM_000368.5(TSC1):c.166C>T (p.Pro56Ser) rs1330089369 0.00001
NM_000368.5(TSC1):c.168G>A (p.Pro56=) rs781483110 0.00001
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) rs886063623 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.181C>T (p.Leu61=) rs752047592 0.00001
NM_000368.5(TSC1):c.1869G>A (p.Lys623=) rs778556382 0.00001
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile) rs754401816 0.00001
NM_000368.5(TSC1):c.1882T>C (p.Leu628=) rs375534013 0.00001
NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala) rs1485955306 0.00001
NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr) rs914628341 0.00001
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg) rs1419720341 0.00001
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg) rs748901883 0.00001
NM_000368.5(TSC1):c.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.2196T>C (p.His732=) rs776441369 0.00001
NM_000368.5(TSC1):c.2208+23G>A rs118203658 0.00001
NM_000368.5(TSC1):c.2226A>G (p.Leu742=) rs397514878 0.00001
NM_000368.5(TSC1):c.2268A>G (p.Lys756=) rs760004541 0.00001
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His) rs776386313 0.00001
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr) rs760208449 0.00001
NM_000368.5(TSC1):c.2392-14G>A rs1057524717 0.00001
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val) rs751128287 0.00001
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg) rs118203699 0.00001
NM_000368.5(TSC1):c.2502+3A>G rs1349115830 0.00001
NM_000368.5(TSC1):c.2503-21T>C rs118203703 0.00001
NM_000368.5(TSC1):c.2520G>A (p.Ser840=) rs547498792 0.00001
NM_000368.5(TSC1):c.2604C>T (p.Asn868=) rs147163264 0.00001
NM_000368.5(TSC1):c.2626-5T>C rs1444272064 0.00001
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln) rs780115763 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.2814-9A>G rs878853965 0.00001
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr) rs751362258 0.00001
NM_000368.5(TSC1):c.2878T>C (p.Leu960=) rs766383986 0.00001
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His) rs767946427 0.00001
NM_000368.5(TSC1):c.289A>G (p.Ile97Val) rs138541569 0.00001
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val) rs397514859 0.00001
NM_000368.5(TSC1):c.2975+6A>T rs1060503220 0.00001
NM_000368.5(TSC1):c.2976-18T>C rs397514866 0.00001
NM_000368.5(TSC1):c.2976-2A>G rs1588288463 0.00001
NM_000368.5(TSC1):c.2994C>T (p.Asp998=) rs923543734 0.00001
NM_000368.5(TSC1):c.3010A>G (p.Met1004Val) rs371879917 0.00001
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr) rs764738792 0.00001
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser) rs1263094349 0.00001
NM_000368.5(TSC1):c.3046G>A (p.Gly1016Ser) rs1020905743 0.00001
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp) rs1313165721 0.00001
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462 0.00001
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile) rs587778726 0.00001
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu) rs753263747 0.00001
NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln) rs755396992 0.00001
NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg) rs1167362899 0.00001
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=) rs878853966 0.00001
NM_000368.5(TSC1):c.3228C>T (p.Thr1076=) rs140622357 0.00001
NM_000368.5(TSC1):c.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.331C>T (p.Pro111Ser) rs748669519 0.00001
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=) rs118203752 0.00001
NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser) rs118203753 0.00001
NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile) rs775420987 0.00001
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=) rs1157060310 0.00001
NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val) rs772233665 0.00001
NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser) rs1249897804 0.00001
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082 0.00001
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro) rs764018144 0.00001
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=) rs763931959 0.00001
NM_000368.5(TSC1):c.3424C>T (p.Pro1142Ser) rs1060503227 0.00001
NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu) rs767904247 0.00001
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806 0.00001
NM_000368.5(TSC1):c.364A>G (p.Met122Val) rs1846685026 0.00001
NM_000368.5(TSC1):c.376G>A (p.Val126Ile) rs397514843 0.00001
NM_000368.5(TSC1):c.378C>T (p.Val126=) rs373173550 0.00001
NM_000368.5(TSC1):c.38T>C (p.Met13Thr) rs1041071543 0.00001
NM_000368.5(TSC1):c.397G>A (p.Val133Ile) rs118203381 0.00001
NM_000368.5(TSC1):c.413C>A (p.Thr138Asn) rs1163879822 0.00001
NM_000368.5(TSC1):c.45C>T (p.Asp15=) rs1457262106 0.00001
NM_000368.5(TSC1):c.514G>A (p.Val172Met) rs952813051 0.00001
NM_000368.5(TSC1):c.51C>G (p.Pro17=) rs768175095 0.00001
NM_000368.5(TSC1):c.555C>T (p.Tyr185=) rs118203398 0.00001
NM_000368.5(TSC1):c.598G>A (p.Val200Ile) rs118203410 0.00001
NM_000368.5(TSC1):c.61G>T (p.Val21Leu) rs1392596033 0.00001
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) rs749030456 0.00001
NM_000368.5(TSC1):c.651A>G (p.Glu217=) rs766250769 0.00001
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn) rs984306144 0.00001
NM_000368.5(TSC1):c.72C>T (p.Asp24=) rs376527838 0.00001
NM_000368.5(TSC1):c.737+6G>A rs567909130 0.00001
NM_000368.5(TSC1):c.771C>T (p.Ile257=) rs1060504854 0.00001
NM_000368.5(TSC1):c.772G>A (p.Glu258Lys) rs118203450 0.00001
NM_000368.5(TSC1):c.774G>A (p.Glu258=) rs1554817678 0.00001
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu) rs878853968 0.00001
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu) rs148756522 0.00001
NM_000368.5(TSC1):c.830T>C (p.Val277Ala) rs200749357 0.00001
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys) rs770653972 0.00001
NM_000368.5(TSC1):c.871G>A (p.Asp291Asn) rs755195460 0.00001
NM_000368.5(TSC1):c.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.944C>G (p.Ser315Cys) rs1332978347 0.00001
NM_000368.5(TSC1):c.960A>G (p.Leu320=) rs770183315 0.00001
NM_000368.5(TSC1):c.966G>A (p.Met322Ile) rs397514807 0.00001
NC_000009.11:g.(135782758_135785957)_(135787845_135796749)del
NM_000368.4(TSC1):c.1030delG rs118203486
NM_000368.4(TSC1):c.2096_2097ins28 (p.?)
NM_000368.4(TSC1):c.2626_2975del
NM_000368.4(TSC1):c.2626_3495del
NM_000368.5(TSC1):c.*1332C>T rs397514841
NM_000368.5(TSC1):c.*1396T>C rs397514790
NM_000368.5(TSC1):c.*1519C>T rs886063608
NM_000368.5(TSC1):c.*1541dup rs748099884
NM_000368.5(TSC1):c.*1612C>A rs886063605
NM_000368.5(TSC1):c.*1969T>C rs886063604
NM_000368.5(TSC1):c.*2022G>T rs568052856
NM_000368.5(TSC1):c.*2213C>A rs539030496
NM_000368.5(TSC1):c.*2228G>A rs528833042
NM_000368.5(TSC1):c.*2230A>G rs397514781
NM_000368.5(TSC1):c.*2364T>A rs886063602
NM_000368.5(TSC1):c.*2439C>A rs886063601
NM_000368.5(TSC1):c.*2475C>A rs886063600
NM_000368.5(TSC1):c.*2615C>A rs886063598
NM_000368.5(TSC1):c.*2632A>G rs886063597
NM_000368.5(TSC1):c.*2641G>T rs397514827
NM_000368.5(TSC1):c.*2644G>T rs886063596
NM_000368.5(TSC1):c.*2658G>T rs886063594
NM_000368.5(TSC1):c.*2679T>C rs886063593
NM_000368.5(TSC1):c.*2691A>T rs886063592
NM_000368.5(TSC1):c.*2893del rs143549363
NM_000368.5(TSC1):c.*2893dup rs143549363
NM_000368.5(TSC1):c.*2897A>G rs886063589
NM_000368.5(TSC1):c.*289del rs11323835
NM_000368.5(TSC1):c.*3047C>A rs886063587
NM_000368.5(TSC1):c.*3239G>T rs886063584
NM_000368.5(TSC1):c.*3240G>T rs886063583
NM_000368.5(TSC1):c.*3248_*3250del rs886063582
NM_000368.5(TSC1):c.*3258G>C rs397514877
NM_000368.5(TSC1):c.*3260G>C rs397514782
NM_000368.5(TSC1):c.*3284C>A rs886063581
NM_000368.5(TSC1):c.*3285G>T rs886063580
NM_000368.5(TSC1):c.*3330G>T rs553475307
NM_000368.5(TSC1):c.*3531G>T rs886063579
NM_000368.5(TSC1):c.*3543C>A rs886063578
NM_000368.5(TSC1):c.*361C>T rs397514844
NM_000368.5(TSC1):c.*3658G>A rs886063577
NM_000368.5(TSC1):c.*3737C>A rs886063576
NM_000368.5(TSC1):c.*3924G>T rs886063575
NM_000368.5(TSC1):c.*3935C>T rs397514787
NM_000368.5(TSC1):c.*3936C>T rs397514853
NM_000368.5(TSC1):c.*3987A>G rs886063574
NM_000368.5(TSC1):c.*4072G>A rs886063573
NM_000368.5(TSC1):c.*4159G>T rs886063571
NM_000368.5(TSC1):c.*4167C>A rs886063570
NM_000368.5(TSC1):c.*4193A>C rs886063569
NM_000368.5(TSC1):c.*4233G>T rs886063568
NM_000368.5(TSC1):c.*4248C>A rs886063567
NM_000368.5(TSC1):c.*4591G>T rs397514821
NM_000368.5(TSC1):c.*4622G>A rs886063564
NM_000368.5(TSC1):c.*4631del rs60000611
NM_000368.5(TSC1):c.*4631dup rs60000611
NM_000368.5(TSC1):c.*548C>A rs886063616
NM_000368.5(TSC1):c.*583C>A rs886063615
NM_000368.5(TSC1):c.*817G>T rs886063614
NM_000368.5(TSC1):c.*859G>T rs886063612
NM_000368.5(TSC1):c.*920C>A rs886063611
NM_000368.5(TSC1):c.-10G>A
NM_000368.5(TSC1):c.-174A>T rs886063627
NM_000368.5(TSC1):c.-80-10T>C rs886063625
NM_000368.5(TSC1):c.-80-51del rs1227429293
NM_000368.5(TSC1):c.-8G>A
NM_000368.5(TSC1):c.1001C>A (p.Ser334Ter) rs118203481
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile) rs1845955010
NM_000368.5(TSC1):c.1005A>G (p.Thr335=) rs753091213
NM_000368.5(TSC1):c.1007_1016del (p.Arg336fs) rs397514849
NM_000368.5(TSC1):c.1012A>G (p.Ile338Val) rs2131974315
NM_000368.5(TSC1):c.101A>T (p.Asn34Ile)
NM_000368.5(TSC1):c.1020del (p.Glu340fs) rs118203484
NM_000368.5(TSC1):c.1022CAC[1] (p.Pro342del)
NM_000368.5(TSC1):c.1029+1G>A rs118203485
NM_000368.5(TSC1):c.1029+3_1029+4del
NM_000368.5(TSC1):c.1029+4T>C rs772962741
NM_000368.5(TSC1):c.1030-14T>C
NM_000368.5(TSC1):c.1030-14del
NM_000368.5(TSC1):c.1030-1G>A rs118203489
NM_000368.5(TSC1):c.1030-3C>G rs118203488
NM_000368.5(TSC1):c.1030-5C>G rs1588323218
NM_000368.5(TSC1):c.1030-9A>G rs118203487
NM_000368.5(TSC1):c.1040G>A (p.Trp347Ter) rs118203490
NM_000368.5(TSC1):c.1044C>A (p.Ser348Arg)
NM_000368.5(TSC1):c.1046C>T (p.Pro349Leu)
NM_000368.5(TSC1):c.1048T>C (p.Ser350Pro)
NM_000368.5(TSC1):c.1054G>A (p.Val352Ile) rs796053447
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr) rs876660024
NM_000368.5(TSC1):c.106+47A>C rs373390352
NM_000368.5(TSC1):c.106+5G>A rs1554820973
NM_000368.5(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.5(TSC1):c.107-15C>T
NM_000368.5(TSC1):c.107-2A>G rs118203332
NM_000368.5(TSC1):c.1072C>A (p.Pro358Thr)
NM_000368.5(TSC1):c.1079C>G (p.Thr360Ser) rs118203493
NM_000368.5(TSC1):c.107A>G (p.Asp36Gly) rs148468036
NM_000368.5(TSC1):c.108C>T (p.Asp36=) rs886063624
NM_000368.5(TSC1):c.1096_1109del (p.Pro366fs) rs118203494
NM_000368.5(TSC1):c.109dup (p.Arg37fs) rs118203333
NM_000368.5(TSC1):c.1101_1114del (p.Asp368fs) rs118203495
NM_000368.5(TSC1):c.1105C>T (p.Leu369=) rs118203496
NM_000368.5(TSC1):c.1110A>C (p.Ser370=) rs371648887
NM_000368.5(TSC1):c.1110dup (p.His371fs) rs118203497
NM_000368.5(TSC1):c.1112_1113dup (p.Pro372fs) rs118203498
NM_000368.5(TSC1):c.1113C>A (p.His371Gln) rs771217333
NM_000368.5(TSC1):c.1118dup (p.Tyr373Ter) rs118203499
NM_000368.5(TSC1):c.1141+1G>T rs397514819
NM_000368.5(TSC1):c.1142-11T>A
NM_000368.5(TSC1):c.1152del (p.Gly385fs) rs118203501
NM_000368.5(TSC1):c.1159C>T (p.Pro387Ser)
NM_000368.5(TSC1):c.1163T>G (p.Leu388Arg)
NM_000368.5(TSC1):c.1166del (p.Gly389fs) rs397514832
NM_000368.5(TSC1):c.1167A>G (p.Gly389=) rs876660723
NM_000368.5(TSC1):c.1182TCC[6] (p.Pro395_Pro397dup) rs1845904104
NM_000368.5(TSC1):c.1187C>T (p.Pro396Leu)
NM_000368.5(TSC1):c.1194C>G (p.Ala398=) rs1060504861
NM_000368.5(TSC1):c.1196_1209del (p.Pro399fs) rs118203502
NM_000368.5(TSC1):c.1203del (p.His402fs) rs118203503
NM_000368.5(TSC1):c.1206T>A (p.His402Gln) rs1845902050
NM_000368.5(TSC1):c.1206T>C (p.His402=) rs1845902050
NM_000368.5(TSC1):c.1211A>T (p.Asp404Val) rs1554817130
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.5(TSC1):c.1225A>G (p.Ile409Val)
NM_000368.5(TSC1):c.1225A>T (p.Ile409Phe)
NM_000368.5(TSC1):c.1234C>A (p.Pro412Thr) rs2131939930
NM_000368.5(TSC1):c.1249del (p.Thr417fs) rs397514792
NM_000368.5(TSC1):c.1250del (p.Thr417fs) rs397514778
NM_000368.5(TSC1):c.1256C>A (p.Pro419His) rs878853959
NM_000368.5(TSC1):c.1256C>T (p.Pro419Leu) rs878853959
NM_000368.5(TSC1):c.1257C>A (p.Pro419=) rs369642207
NM_000368.5(TSC1):c.1257del (p.Arg420fs) rs118203506
NM_000368.5(TSC1):c.1257dup (p.Arg420fs)
NM_000368.5(TSC1):c.1263+4C>T rs1554817077
NM_000368.5(TSC1):c.1264-12T>G
NM_000368.5(TSC1):c.1264-1G>C
NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs) rs118203509
NM_000368.5(TSC1):c.1279del (p.Ser427fs) rs118203510
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.12A>G (p.Gln4=) rs1588363707
NM_000368.5(TSC1):c.1303C>T (p.Gln435Ter) rs118203511
NM_000368.5(TSC1):c.1304A>G (p.Gln435Arg) rs2131880323
NM_000368.5(TSC1):c.1309C>G (p.His437Asp) rs985183299
NM_000368.5(TSC1):c.1309C>T (p.His437Tyr) rs985183299
NM_000368.5(TSC1):c.130A>T (p.Thr44Ser) rs1399266964
NM_000368.5(TSC1):c.130dup (p.Thr44fs) rs118203336
NM_000368.5(TSC1):c.131_132dup (p.Leu45fs) rs118203337
NM_000368.5(TSC1):c.1331C>A (p.Ser444Ter) rs118203512
NM_000368.5(TSC1):c.1331C>G (p.Ser444Ter) rs118203512
NM_000368.5(TSC1):c.1331C>T (p.Ser444Leu)
NM_000368.5(TSC1):c.1332A>C (p.Ser444=) rs773003016
NM_000368.5(TSC1):c.1333+1dup rs118203514
NM_000368.5(TSC1):c.1338del (p.Glu446fs) rs118203517
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala) rs1588313030
NM_000368.5(TSC1):c.133T>G (p.Leu45Val) rs755226092
NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu) rs772868048
NM_000368.5(TSC1):c.1343C>T (p.Pro448Leu) rs397514848
NM_000368.5(TSC1):c.1350C>T (p.Ser450=) rs773780814
NM_000368.5(TSC1):c.135G>T (p.Leu45Phe)
NM_000368.5(TSC1):c.1361_1398del (p.Val454fs) rs118203520
NM_000368.5(TSC1):c.1364del (p.Thr455fs) rs118203521
NM_000368.5(TSC1):c.1366_1367del (p.Leu456fs) rs397514798
NM_000368.5(TSC1):c.1366_1367insGA (p.Leu456fs) rs118203522
NM_000368.5(TSC1):c.1368A>C (p.Leu456=) rs397514856
NM_000368.5(TSC1):c.1368A>G (p.Leu456=) rs397514856
NM_000368.5(TSC1):c.1369del (p.Ser457fs) rs118203523
NM_000368.5(TSC1):c.1371T>C (p.Ser457=) rs118203524
NM_000368.5(TSC1):c.1379del (p.Pro460fs) rs118203525
NM_000368.5(TSC1):c.138G>A (p.Val46=)
NM_000368.5(TSC1):c.1411_1412insT (p.Asp471fs) rs118203526
NM_000368.5(TSC1):c.1412del (p.Asp471fs) rs2131863156
NM_000368.5(TSC1):c.1416T>C (p.Ser472=)
NM_000368.5(TSC1):c.1424A>G (p.Lys475Arg) rs2131862407
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr) rs1554816213
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) rs118203527
NM_000368.5(TSC1):c.1431dup (p.Glu478fs) rs397514858
NM_000368.5(TSC1):c.1432_1433dup (p.Glu479fs) rs118203528
NM_000368.5(TSC1):c.1433A>G (p.Glu478Gly) rs118203529
NM_000368.5(TSC1):c.1439-11C>T
NM_000368.5(TSC1):c.1439-15C>G
NM_000368.5(TSC1):c.1439-1G>A rs397514804
NM_000368.5(TSC1):c.1439-20_1439-9del rs1064792996
NM_000368.5(TSC1):c.1439-2A>G rs118203531
NM_000368.5(TSC1):c.1439-2A>T rs118203531
NM_000368.5(TSC1):c.1439-7C>A rs1588311354
NM_000368.5(TSC1):c.1444A>G (p.Ile482Val)
NM_000368.5(TSC1):c.1452del (p.Glu485fs) rs397514797
NM_000368.5(TSC1):c.145del (p.Tyr49fs) rs118203339
NM_000368.5(TSC1):c.1462G>T (p.Glu488Ter) rs118203533
NM_000368.5(TSC1):c.1467CAC[1] (p.Thr491del) rs1554816071
NM_000368.5(TSC1):c.1469C>T (p.Thr490Ile) rs1564482593
NM_000368.5(TSC1):c.146del (p.Tyr49fs) rs397514861
NM_000368.5(TSC1):c.1470del (p.Thr491fs) rs118203534
NM_000368.5(TSC1):c.1481C>T (p.Ala494Val)
NM_000368.5(TSC1):c.1481dup (p.Glu495fs) rs118203535
NM_000368.5(TSC1):c.1482A>G (p.Ala494=)
NM_000368.5(TSC1):c.1483G>A (p.Glu495Lys) rs1845656110
NM_000368.5(TSC1):c.1489G>A (p.Val497Met) rs946491568
NM_000368.5(TSC1):c.1489G>C (p.Val497Leu) rs946491568
NM_000368.5(TSC1):c.148del (p.Leu50fs) rs118203340
NM_000368.5(TSC1):c.1490_1491del (p.Val497fs) rs118203536
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.5(TSC1):c.1499G>A (p.Arg500Gln) rs118203538
NM_000368.5(TSC1):c.149T>C (p.Leu50Pro) rs118203341
NM_000368.5(TSC1):c.1501G>T (p.Gly501Ter) rs118203539
NM_000368.5(TSC1):c.1503del (p.Gly502fs) rs397514876
NM_000368.5(TSC1):c.1515_1516dup (p.Pro506fs) rs281875358
NM_000368.5(TSC1):c.1515dup (p.Pro506fs) rs118203540
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1530_1531del (p.Asp510fs) rs118203544
NM_000368.5(TSC1):c.1533T>C (p.Ser511=) rs1588310849
NM_000368.5(TSC1):c.1533del (p.Leu512fs) rs118203545
NM_000368.5(TSC1):c.1535_1536del (p.Leu512fs) rs397514823
NM_000368.5(TSC1):c.1542_1543insG (p.Ser515fs) rs118203546
NM_000368.5(TSC1):c.1549C>A (p.Arg517=) rs1243886871
NM_000368.5(TSC1):c.1559del (p.His520fs) rs118203547
NM_000368.5(TSC1):c.1572C>G (p.Ser524=) rs397514810
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs) rs118203550
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del) rs766376606
NM_000368.5(TSC1):c.158G>C (p.Ser53Thr)
NM_000368.5(TSC1):c.1607T>C (p.Leu536Ser) rs776633158
NM_000368.5(TSC1):c.1615del (p.Ser539fs) rs118203551
NM_000368.5(TSC1):c.1631_1647del (p.Gly544fs) rs118203552
NM_000368.5(TSC1):c.163C>T (p.Gln55Ter) rs118203343
NM_000368.5(TSC1):c.1647G>A (p.Lys549=) rs2131835538
NM_000368.5(TSC1):c.1662del (p.Pro554_Ile555insTer) rs118203554
NM_000368.5(TSC1):c.1664del (p.Ile555fs) rs397514829
NM_000368.5(TSC1):c.1669C>T (p.Leu557=) rs118203555
NM_000368.5(TSC1):c.1669del (p.Leu557fs) rs118203556
NM_000368.5(TSC1):c.1672C>T (p.Pro558Ser) rs1554815946
NM_000368.5(TSC1):c.1676dup (p.Cys559fs) rs118203558
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs) rs118203557
NM_000368.5(TSC1):c.1680_1702dup (p.Gly568fs) rs118203557
NM_000368.5(TSC1):c.1683_1705dup (p.Asp569fs) rs118203560
NM_000368.5(TSC1):c.1687del (p.Asp563fs) rs118203561
NM_000368.5(TSC1):c.1692_1693del (p.Ser565fs) rs118203562
NM_000368.5(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.5(TSC1):c.1698_1704delinsGC (p.Ala567fs) rs1554815914
NM_000368.5(TSC1):c.1703dup (p.Asp569fs) rs397514777
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs) rs118203564
NM_000368.5(TSC1):c.170C>T (p.Ala57Val)
NM_000368.5(TSC1):c.1713A>G (p.Glu571=) rs1588309781
NM_000368.5(TSC1):c.1717C>T (p.Gln573Ter) rs118203565
NM_000368.5(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala) rs1454859974
NM_000368.5(TSC1):c.1724C>T (p.Ser575Phe) rs118203566
NM_000368.5(TSC1):c.1727_1742del (p.Leu576fs) rs118203568
NM_000368.5(TSC1):c.1729G>A (p.Glu577Lys) rs118203570
NM_000368.5(TSC1):c.1729G>T (p.Glu577Ter) rs118203570
NM_000368.5(TSC1):c.1731G>C (p.Glu577Asp) rs118203571
NM_000368.5(TSC1):c.1733C>T (p.Thr578Ile) rs1588309612
NM_000368.5(TSC1):c.1736del (p.Ser579fs) rs118203572
NM_000368.5(TSC1):c.1746dup (p.Pro583fs) rs118203573
NM_000368.5(TSC1):c.1749_1750del (p.Pro585fs) rs118203574
NM_000368.5(TSC1):c.1757_1765del (p.Cys586_Pro589delinsSer) rs118203575
NM_000368.5(TSC1):c.1757_1768delinsCA (p.Cys586fs) rs397514857
NM_000368.5(TSC1):c.1759A>T (p.Lys587Ter) rs397514846
NM_000368.5(TSC1):c.1761A>G (p.Lys587=) rs118203577
NM_000368.5(TSC1):c.1766del (p.Pro589fs) rs397514811
NM_000368.5(TSC1):c.1767A>G (p.Pro589=) rs118203578
NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser) rs1429666367
NM_000368.5(TSC1):c.1773_1774dup (p.Thr592fs) rs118203579
NM_000368.5(TSC1):c.1776G>T (p.Thr592=) rs118203580
NM_000368.5(TSC1):c.1777A>T (p.Arg593Ter) rs118203581
NM_000368.5(TSC1):c.1788del (p.Phe596fs) rs118203582
NM_000368.5(TSC1):c.1791_1792dup (p.Ser598fs) rs118203583
NM_000368.5(TSC1):c.1792dup (p.Ser598fs) rs118203583
NM_000368.5(TSC1):c.1803T>A (p.Pro601=)
NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu) rs1588309097
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg) rs751247705
NM_000368.5(TSC1):c.1809G>C (p.Pro603=) rs112434645
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe) rs1554815795
NM_000368.5(TSC1):c.181_189del (p.Thr62_Leu64del) rs118203344
NM_000368.5(TSC1):c.1823_1824del (p.Leu607_Phe608insTer) rs118203585
NM_000368.5(TSC1):c.1823_1824dup (p.Glu609fs) rs118203585
NM_000368.5(TSC1):c.1825G>T (p.Glu609Ter) rs118203587
NM_000368.5(TSC1):c.182T>C (p.Leu61Pro) rs118203345
NM_000368.5(TSC1):c.182T>G (p.Leu61Arg) rs118203345
NM_000368.5(TSC1):c.1830G>T (p.Val610=)
NM_000368.5(TSC1):c.1839A>G (p.Pro613=) rs118203588
NM_000368.5(TSC1):c.1841del (p.Lys614fs) rs118203589
NM_000368.5(TSC1):c.1844C>T (p.Thr615Ile) rs1588308884
NM_000368.5(TSC1):c.1849C>G (p.His617Asp) rs397514854
NM_000368.5(TSC1):c.1851T>C (p.His617=) rs2131818787
NM_000368.5(TSC1):c.1851del (p.His618fs) rs118203590
NM_000368.5(TSC1):c.1857del (p.Phe619fs) rs118203591
NM_000368.5(TSC1):c.185C>G (p.Thr62Ser)
NM_000368.5(TSC1):c.185C>T (p.Thr62Ile)
NM_000368.5(TSC1):c.1874A>G (p.Glu625Gly)
NM_000368.5(TSC1):c.1876G>T (p.Glu626Ter) rs397514815
NM_000368.5(TSC1):c.1879C>T (p.Leu627=) rs1171110012
NM_000368.5(TSC1):c.1883T>A (p.Leu628Ter) rs118203592
NM_000368.5(TSC1):c.1883T>G (p.Leu628Ter) rs118203592
NM_000368.5(TSC1):c.1884_1905del (p.Lys629fs) rs397514796
NM_000368.5(TSC1):c.1886del (p.Lys629fs) rs118203594
NM_000368.5(TSC1):c.1888A>G (p.Lys630Glu) rs1158059433
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
NM_000368.5(TSC1):c.1890dup (p.Ala631fs) rs118203596
NM_000368.5(TSC1):c.1904C>T (p.Thr635Ile)
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs) rs118203597
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs) rs118203599
NM_000368.5(TSC1):c.1911del (p.Asp638fs) rs397514801
NM_000368.5(TSC1):c.1913A>T (p.Asp638Val)
NM_000368.5(TSC1):c.191_199del (p.Leu64_Pro67delinsSer) rs118203346
NM_000368.5(TSC1):c.1922C>T (p.Pro641Leu) rs397514863
NM_000368.5(TSC1):c.1925C>T (p.Ser642Phe) rs1845610761
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu) rs1269162063
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr) rs1588308288
NM_000368.5(TSC1):c.1942del (p.Val648fs) rs118203600
NM_000368.5(TSC1):c.1948G>A (p.Asp650Asn)
NM_000368.5(TSC1):c.1955_1956del (p.Leu652fs) rs118203601
NM_000368.5(TSC1):c.1959dup (p.Gln654fs) rs118203603
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter) rs118203606
NM_000368.5(TSC1):c.1964del (p.Gln655fs) rs397514793
NM_000368.5(TSC1):c.1967G>C (p.Gly656Ala) rs1554815701
NM_000368.5(TSC1):c.1968A>C (p.Gly656=) rs118203607
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu) rs118203608
NM_000368.5(TSC1):c.1997+17C>G rs397514860
NM_000368.5(TSC1):c.1997+1G>A rs118203610
NM_000368.5(TSC1):c.1997+1G>C rs118203610
NM_000368.5(TSC1):c.1997+2T>C
NM_000368.5(TSC1):c.1997+6_1997+7del
NM_000368.5(TSC1):c.1998-1G>A rs118203614
NM_000368.5(TSC1):c.1998-1G>C rs118203614
NM_000368.5(TSC1):c.1998-2A>G rs1057518217
NM_000368.5(TSC1):c.1998-54C>T rs118203613
NM_000368.5(TSC1):c.1998-7T>G rs1845549017
NM_000368.5(TSC1):c.1998-8C>G
NM_000368.5(TSC1):c.1998-9T>C
NM_000368.5(TSC1):c.1998G>A (p.Lys666=) rs118203616
NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter) rs118203617
NM_000368.5(TSC1):c.2008C>A (p.Pro670Thr)
NM_000368.5(TSC1):c.200C>T (p.Pro67Leu)
NM_000368.5(TSC1):c.2020G>A (p.Val674Ile) rs1845544758
NM_000368.5(TSC1):c.2022C>T (p.Val674=) rs118203618
NM_000368.5(TSC1):c.2022del (p.Asp675fs) rs118203619
NM_000368.5(TSC1):c.2023G>A (p.Asp675Asn) rs768189353
NM_000368.5(TSC1):c.2023G>T (p.Asp675Tyr) rs768189353
NM_000368.5(TSC1):c.2023del (p.Asp675fs) rs118203620
NM_000368.5(TSC1):c.2028G>A (p.Trp676Ter) rs118203621
NM_000368.5(TSC1):c.2030_2040del (p.Thr677fs) rs118203622
NM_000368.5(TSC1):c.2031C>A (p.Thr677=) rs1060504855
NM_000368.5(TSC1):c.2033_2041+14del rs397514817
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu) rs118203623
NM_000368.5(TSC1):c.2041+1G>A rs397514842
NM_000368.5(TSC1):c.2041+2T>A rs118203625
NM_000368.5(TSC1):c.2041+2T>C rs118203625
NM_000368.5(TSC1):c.2041+5del rs1564479424
NM_000368.5(TSC1):c.2041G>A (p.Gly681Ser) rs118203624
NM_000368.5(TSC1):c.2042-2A>G rs118203628
NM_000368.5(TSC1):c.2042-5A>G rs118203627
NM_000368.5(TSC1):c.2045C>G (p.Ser682Cys) rs919177189
NM_000368.5(TSC1):c.2046_2047del (p.Pro683fs) rs397514869
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del) rs397514799
NM_000368.5(TSC1):c.2054C>A (p.Ser685Ter) rs118203629
NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly) rs786201465
NM_000368.5(TSC1):c.2069_2074delinsACACTT (p.Thr690_Arg692delinsAsnThrTer) rs118203630
NM_000368.5(TSC1):c.206A>G (p.Asp69Gly) rs1846914861
NM_000368.5(TSC1):c.2070_2097dup (p.Asn700fs) rs1554815323
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2079C>T (p.Asp693=)
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter) rs397514789
NM_000368.5(TSC1):c.2082del (p.Gln694fs) rs118203632
NM_000368.5(TSC1):c.2090del (p.Leu697fs) rs118203633
NM_000368.5(TSC1):c.2093T>G (p.Leu698Arg) rs397514802
NM_000368.5(TSC1):c.2094del (p.His699fs) rs118203634
NM_000368.5(TSC1):c.2097dup (p.Asn700fs) rs118203635
NM_000368.5(TSC1):c.210+1G>A rs118203348
NM_000368.5(TSC1):c.2101_2102del (p.Gln701fs) rs118203637
NM_000368.5(TSC1):c.2101_2107del (p.Gln701fs) rs397514791
NM_000368.5(TSC1):c.2101del (p.Gln701fs) rs118203636
NM_000368.5(TSC1):c.2103G>T (p.Gln701His) rs118203639
NM_000368.5(TSC1):c.2103_2106del (p.Gln701fs) rs118203638
NM_000368.5(TSC1):c.2103_2106dup (p.Leu703fs) rs118203638
NM_000368.5(TSC1):c.2103_2109dup (p.Tyr704fs) rs118203641
NM_000368.5(TSC1):c.2106_2107insGTTTA (p.Leu703fs) rs118203642
NM_000368.5(TSC1):c.2106delinsGT (p.Leu703fs) rs397514838
NM_000368.5(TSC1):c.2109_2110del (p.Leu703_Tyr704insTer) rs118203643
NM_000368.5(TSC1):c.211-11dup rs397514775
NM_000368.5(TSC1):c.211-16T>C rs118203351
NM_000368.5(TSC1):c.211-1G>A rs118203353
NM_000368.5(TSC1):c.211-1G>T rs118203353
NM_000368.5(TSC1):c.211-2A>C rs118203352
NM_000368.5(TSC1):c.2110dup (p.Tyr704fs) rs118203644
NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys) rs752054698
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer) rs118203645
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter) rs118203646
NM_000368.5(TSC1):c.2119T>C (p.Phe707Leu) rs1845501093
NM_000368.5(TSC1):c.2128C>T (p.Gln710Ter) rs397514874
NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter) rs118203647
NM_000368.5(TSC1):c.2135_2139del (p.His712fs) rs118203648
NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp) rs1564478519
NM_000368.5(TSC1):c.2145del (p.Asn716fs) rs118203650
NM_000368.5(TSC1):c.2146_2153dup (p.Leu719fs) rs397514803
NM_000368.5(TSC1):c.214C>T (p.Leu72Phe) rs759183842
NM_000368.5(TSC1):c.2151dup (p.Arg718fs) rs118203651
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln) rs1060503207
NM_000368.5(TSC1):c.215T>C (p.Leu72Pro) rs118203354
NM_000368.5(TSC1):c.2161C>G (p.Arg721Gly) rs763357144
NM_000368.5(TSC1):c.2162G>A (p.Arg721His) rs769566267
NM_000368.5(TSC1):c.2162G>C (p.Arg721Pro) rs769566267
NM_000368.5(TSC1):c.2164A>T (p.Lys722Ter) rs397514772
NM_000368.5(TSC1):c.2166G>T (p.Lys722Asn)
NM_000368.5(TSC1):c.2169del (p.Ile724fs) rs118203652
NM_000368.5(TSC1):c.2173_2176del (p.Lys725fs) rs118203653
NM_000368.5(TSC1):c.2175dup (p.Ala726fs) rs118203654
NM_000368.5(TSC1):c.2177C>A (p.Ala726Glu) rs118203655
NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter) rs397514820
NM_000368.5(TSC1):c.2191del (p.Glu731fs) rs118203656
NM_000368.5(TSC1):c.2195A>G (p.His732Arg) rs878853964
NM_000368.5(TSC1):c.21C>G (p.Val7=) rs145987906
NM_000368.5(TSC1):c.21C>T (p.Val7=) rs145987906
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.2209-35A>G rs118203659
NM_000368.5(TSC1):c.2209-9C>T rs118203660
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter) rs118203661
NM_000368.5(TSC1):c.2233A>G (p.Lys745Glu)
NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr) rs786203007
NM_000368.5(TSC1):c.2240T>C (p.Ile747Thr)
NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter) rs118203662
NM_000368.5(TSC1):c.2250G>A (p.Trp750Ter) rs118203663
NM_000368.5(TSC1):c.2251A>C (p.Lys751Gln) rs1845453569
NM_000368.5(TSC1):c.2259T>C (p.Ser753=)
NM_000368.5(TSC1):c.2260C>T (p.Leu754=) rs118203664
NM_000368.5(TSC1):c.2268_2271del (p.Lys756fs) rs118203665
NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys) rs397514783
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.5(TSC1):c.227T>A (p.Ile76Asn) rs118203355
NM_000368.5(TSC1):c.2280_2295del (p.Tyr761fs) rs118203666
NM_000368.5(TSC1):c.2281_2284dup (p.Asn762fs) rs118203667
NM_000368.5(TSC1):c.2282A>G (p.Tyr761Cys) rs1554815018
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter) rs118203668
NM_000368.5(TSC1):c.2283C>G (p.Tyr761Ter) rs118203668
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp) rs1264839312
NM_000368.5(TSC1):c.2286T>C (p.Asn762=) rs1554815010
NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter) rs118203671
NM_000368.5(TSC1):c.2291del (p.Leu764fs) rs118203672
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter) rs118203673
NM_000368.5(TSC1):c.2298_2320del (p.Gln767fs) rs118203674
NM_000368.5(TSC1):c.2299C>T (p.Gln767Ter) rs118203675
NM_000368.5(TSC1):c.2317del (p.Thr773fs) rs118203676
NM_000368.5(TSC1):c.2319del (p.Lys774fs) rs118203677
NM_000368.5(TSC1):c.2324T>A (p.Leu775His)
NM_000368.5(TSC1):c.2326C>A (p.His776Asn)
NM_000368.5(TSC1):c.2328_2329del (p.His776fs) rs118203678
NM_000368.5(TSC1):c.2329del (p.Ser777fs) rs397514780
NM_000368.5(TSC1):c.232G>A (p.Glu78Lys)
NM_000368.5(TSC1):c.2332C>T (p.Gln778Ter) rs118203679
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter) rs118203680
NM_000368.5(TSC1):c.2342_2343insAA (p.Leu782fs) rs397514855
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter) rs118203681
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.2357del (p.Arg786fs) rs118203683
NM_000368.5(TSC1):c.2360_2364del (p.Glu787fs) rs118203684
NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter) rs118203685
NM_000368.5(TSC1):c.2364del (p.Glu788fs) rs118203686
NM_000368.5(TSC1):c.2370C>T (p.Tyr790=) rs1845442273
NM_000368.5(TSC1):c.2375A>T (p.Gln792Leu)
NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys) rs781371665
NM_000368.5(TSC1):c.2387dup (p.Leu796fs) rs397514786
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.5(TSC1):c.2391G>T (p.Gln797His)
NM_000368.5(TSC1):c.2392-1G>A rs397514822
NM_000368.5(TSC1):c.239T>C (p.Val80Ala)
NM_000368.5(TSC1):c.2401G>T (p.Glu801Ter) rs118203687
NM_000368.5(TSC1):c.2402A>G (p.Glu801Gly)
NM_000368.5(TSC1):c.2407del (p.Cys803fs) rs118203688
NM_000368.5(TSC1):c.2412_2425del (p.Asn805fs) rs118203689
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.2421dup (p.Ala808fs) rs118203691
NM_000368.5(TSC1):c.2431C>G (p.Arg811Gly) rs397514814
NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp) rs397514814
NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter) rs1588299158
NM_000368.5(TSC1):c.244A>T (p.Lys82Ter)
NM_000368.5(TSC1):c.2456_2459del (p.Asn819fs) rs118203693
NM_000368.5(TSC1):c.2458_2460del (p.Lys820del)
NM_000368.5(TSC1):c.2465_2466del (p.Cys822fs) rs118203694
NM_000368.5(TSC1):c.2468_2469insG (p.His823fs) rs118203696
NM_000368.5(TSC1):c.2468del (p.His823fs) rs118203695
NM_000368.5(TSC1):c.2470_2471del (p.His823_Thr824insTer) rs118203697
NM_000368.5(TSC1):c.2471_2472del (p.Thr824fs) rs118203698
NM_000368.5(TSC1):c.2478G>A (p.Leu826=) rs149719514
NM_000368.5(TSC1):c.2485A>T (p.Ser829Cys) rs118203699
NM_000368.5(TSC1):c.2497C>T (p.Gln833Ter) rs118203700
NM_000368.5(TSC1):c.2501dup (p.Leu835fs) rs118203701
NM_000368.5(TSC1):c.2503-11T>A rs201568350
NM_000368.5(TSC1):c.2503-11T>G rs201568350
NM_000368.5(TSC1):c.2503-12T>C rs765263617
NM_000368.5(TSC1):c.2503-1G>T rs118203705
NM_000368.5(TSC1):c.2503-2A>G rs118203704
NM_000368.5(TSC1):c.2503-35T>C rs118203702
NM_000368.5(TSC1):c.2503-3T>C rs1355806067
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter) rs118203706
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.5(TSC1):c.250G>T (p.Ala84Ser)
NM_000368.5(TSC1):c.2510dup (p.Asn837fs) rs118203709
NM_000368.5(TSC1):c.2514T>G (p.Ser838Arg) rs786203259
NM_000368.5(TSC1):c.2521dup (p.Val841fs) rs397514850
NM_000368.5(TSC1):c.2523C>T (p.Val841=) rs397514825
NM_000368.5(TSC1):c.2528_2534del (p.Gln843fs) rs118203710
NM_000368.5(TSC1):c.252C>T (p.Ala84=)
NM_000368.5(TSC1):c.252dup (p.Thr85fs) rs118203358
NM_000368.5(TSC1):c.2555T>C (p.Leu852Pro)
NM_000368.5(TSC1):c.2559_2562del (p.Leu853fs) rs118203711
NM_000368.5(TSC1):c.2569del (p.Glu857fs) rs118203712
NM_000368.5(TSC1):c.2569dup (p.Glu857fs) rs118203712
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys) rs1463772907
NM_000368.5(TSC1):c.2582del (p.Leu861fs) rs397514865
NM_000368.5(TSC1):c.2595del (p.Gln865fs) rs118203714
NM_000368.5(TSC1):c.2597T>G (p.Leu866Arg)
NM_000368.5(TSC1):c.2602A>G (p.Asn868Asp)
NM_000368.5(TSC1):c.260T>G (p.Leu87Ter) rs397514776
NM_000368.5(TSC1):c.260_261insGA (p.Ser88fs) rs118203359
NM_000368.5(TSC1):c.2614G>A (p.Asp872Asn) rs746607455
NM_000368.5(TSC1):c.2622A>G (p.Thr874=) rs2131684460
NM_000368.5(TSC1):c.2626-1G>A rs397514847
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-2A>C rs118203717
NM_000368.5(TSC1):c.2626-2A>G rs118203717
NM_000368.5(TSC1):c.2626-2A>T
NM_000368.5(TSC1):c.2626-2del
NM_000368.5(TSC1):c.2626-2dup
NM_000368.5(TSC1):c.2626-3_2626-2insT rs760737807
NM_000368.5(TSC1):c.2626-3_2626-2insTA rs760737807
NM_000368.5(TSC1):c.2626-3_2626-2insTG
NM_000368.5(TSC1):c.2626-3del rs886063622
NM_000368.5(TSC1):c.2626-4T[17_21]
NM_000368.5(TSC1):c.2626-4_2626-3dup rs1554813638
NM_000368.5(TSC1):c.2626-4_2626-3insTTTTTTTTTTTTTTTTTTTTTAATTAATTATTCTAGTTTT
NM_000368.5(TSC1):c.2626-4del rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-6_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-6_2626-5insTC rs1256355250
NM_000368.5(TSC1):c.2626-7_2626-4del rs5901000
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile) rs1554813610
NM_000368.5(TSC1):c.2649C>G (p.Ala883=) rs1279318276
NM_000368.5(TSC1):c.2650dup (p.Tyr884fs) rs118203722
NM_000368.5(TSC1):c.2652T>A (p.Tyr884Ter) rs397514805
NM_000368.5(TSC1):c.2657_2658del (p.Lys886fs) rs397514788
NM_000368.5(TSC1):c.2658del (p.Glu887fs) rs397514788
NM_000368.5(TSC1):c.2665G>A (p.Glu889Lys)
NM_000368.5(TSC1):c.2665G>T (p.Glu889Ter)
NM_000368.5(TSC1):c.2671_2672dup (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2672del (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2672dup (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs) rs118203726
NM_000368.5(TSC1):c.2679C>T (p.Ser893=) rs374311456
NM_000368.5(TSC1):c.2681A>G (p.His894Arg) rs1588290830
NM_000368.5(TSC1):c.2682T>C (p.His894=) rs771479673
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
NM_000368.5(TSC1):c.2694del (p.Thr899fs) rs118203729
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter) rs397514871
NM_000368.5(TSC1):c.2699del (p.Gln900fs) rs118203731
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.5(TSC1):c.271_272del (p.Ser91fs) rs118203360
NM_000368.5(TSC1):c.2722C>A (p.Arg908=)
NM_000368.5(TSC1):c.272C>A (p.Ser91Ter) rs118203361
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro) rs397514873
NM_000368.5(TSC1):c.2755A>C (p.Lys919Gln) rs1319954878
NM_000368.5(TSC1):c.2760C>T (p.Asp920=) rs1226490074
NM_000368.5(TSC1):c.276_277insAA (p.Leu93fs) rs118203362
NM_000368.5(TSC1):c.276dup (p.Leu93fs) rs118203362
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter) rs397514879
NM_000368.5(TSC1):c.2781_2784del (p.Lys927fs) rs397514845
NM_000368.5(TSC1):c.2786_2787del (p.Tyr929fs) rs118203734
NM_000368.5(TSC1):c.278T>G (p.Leu93Arg) rs118203363
NM_000368.5(TSC1):c.2796T>G (p.Asp932Glu) rs766871150
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter) rs118203735
NM_000368.5(TSC1):c.2813+3_2813+21del rs118203737
NM_000368.5(TSC1):c.2813+5C>T rs1060503223
NM_000368.5(TSC1):c.2813G>A (p.Arg938Lys) rs1249697208
NM_000368.5(TSC1):c.2813_2813+4del rs118203736
NM_000368.5(TSC1):c.2815G>A (p.Gly939Arg) rs1564471685
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter)
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser) rs751362258
NM_000368.5(TSC1):c.2830_2831insGCCTG (p.Ala944fs) rs118203739
NM_000368.5(TSC1):c.2831C>T (p.Ala944Val)
NM_000368.5(TSC1):c.2851C>A (p.Gln951Lys)
NM_000368.5(TSC1):c.289A>T (p.Ile97Leu) rs138541569
NM_000368.5(TSC1):c.2904G>A (p.Arg968=) rs1554813280
NM_000368.5(TSC1):c.2905T>C (p.Leu969=) rs768350176
NM_000368.5(TSC1):c.2933T>A (p.Leu978His) rs770834438
NM_000368.5(TSC1):c.2935G>A (p.Glu979Lys) rs1845118974
NM_000368.5(TSC1):c.2949_2957del (p.985AAE[1]) rs767902029
NM_000368.5(TSC1):c.2976-15C>T rs1195411560
NM_000368.5(TSC1):c.2977C>A (p.Leu993Ile)
NM_000368.5(TSC1):c.2977C>T (p.Leu993Phe) rs1177810382
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly) rs1554813029
NM_000368.5(TSC1):c.2987G>C (p.Cys996Ser)
NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp) rs552217429
NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe) rs1554812991
NM_000368.5(TSC1):c.3010A>T (p.Met1004Leu) rs371879917
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile) rs751970451
NM_000368.5(TSC1):c.3018G>A (p.Gly1006=)
NM_000368.5(TSC1):c.3018G>T (p.Gly1006=)
NM_000368.5(TSC1):c.3024T>C (p.Asn1008=) rs142954164
NM_000368.5(TSC1):c.3029A>G (p.Glu1010Gly)
NM_000368.5(TSC1):c.303A>G (p.Pro101=) rs2132233153
NM_000368.5(TSC1):c.3044A>G (p.Asn1015Ser)
NM_000368.5(TSC1):c.3050A>G (p.Glu1017Gly) rs922638686
NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu) rs1317622700
NM_000368.5(TSC1):c.3058A>G (p.Thr1020Ala) rs1588287982
NM_000368.5(TSC1):c.3059C>G (p.Thr1020Ser)
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=) rs1380396209
NM_000368.5(TSC1):c.3062C>G (p.Pro1021Arg) rs1845082733
NM_000368.5(TSC1):c.3063del (p.Arg1022fs) rs2131612319
NM_000368.5(TSC1):c.3067C>T (p.Pro1023Ser) rs138445573
NM_000368.5(TSC1):c.3069C>T (p.Pro1023=) rs1588287899
NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn) rs1845081620
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295
NM_000368.5(TSC1):c.3088A>G (p.Ser1030Gly)
NM_000368.5(TSC1):c.308G>A (p.Trp103Ter) rs118203364
NM_000368.5(TSC1):c.309G>A (p.Trp103Ter) rs118203365
NM_000368.5(TSC1):c.3106G>A (p.Gly1036Arg) rs1588287655
NM_000368.5(TSC1):c.3112AGC[5] (p.Ser1043del) rs2234980
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3112AGC[8] (p.Ser1042_Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3112AGC[9] (p.Ser1041_Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3113G>A (p.Ser1038Asn) rs1060503196
NM_000368.5(TSC1):c.3114C>T (p.Ser1038=) rs1588287598
NM_000368.5(TSC1):c.3127A>G (p.Ser1043Gly) rs1554812848
NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu) rs1203864892
NM_000368.5(TSC1):c.3146A>G (p.Glu1049Gly) rs2131606041
NM_000368.5(TSC1):c.3147G>C (p.Glu1049Asp) rs397514831
NM_000368.5(TSC1):c.3155C>T (p.Pro1052Leu)
NM_000368.5(TSC1):c.3157C>T (p.His1053Tyr)
NM_000368.5(TSC1):c.3158A>C (p.His1053Pro)
NM_000368.5(TSC1):c.3193A>G (p.Thr1065Ala)
NM_000368.5(TSC1):c.3205G>A (p.Glu1069Lys) rs1845061706
NM_000368.5(TSC1):c.3209C>G (p.Ala1070Gly) rs1060503200
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val) rs1060503200
NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val) rs779369226
NM_000368.5(TSC1):c.3216C>T (p.Ala1072=) rs118203747
NM_000368.5(TSC1):c.3217A>G (p.Ser1073Gly) rs1845059319
NM_000368.5(TSC1):c.3223C>G (p.Pro1075Ala)
NM_000368.5(TSC1):c.3227C>G (p.Thr1076Ser) rs2131600316
NM_000368.5(TSC1):c.3231T>C (p.Thr1077=) rs118203748
NM_000368.5(TSC1):c.3242T>A (p.Leu1081His)
NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala) rs1060503191
NM_000368.5(TSC1):c.324_325del (p.Gln109fs) rs397514795
NM_000368.5(TSC1):c.3257G>A (p.Ser1086Asn)
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg) rs1845053380
NM_000368.5(TSC1):c.325C>T (p.Gln109Ter) rs397514774
NM_000368.5(TSC1):c.3264G>C (p.Leu1088=)
NM_000368.5(TSC1):c.3266del (p.Gly1089fs)
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.3296A>G (p.Lys1099Arg) rs876660132
NM_000368.5(TSC1):c.3301G>A (p.Glu1101Lys) rs1554812661
NM_000368.5(TSC1):c.3315T>C (p.Asp1105=)
NM_000368.5(TSC1):c.3318G>A (p.Glu1106=) rs2131594665
NM_000368.5(TSC1):c.3322G>T (p.Gly1108Cys) rs118203753
NM_000368.5(TSC1):c.334_335dup (p.Leu113fs) rs118203366
NM_000368.5(TSC1):c.3353A>G (p.Lys1118Arg)
NM_000368.5(TSC1):c.3361C>T (p.Leu1121=) rs769478982
NM_000368.5(TSC1):c.338del (p.Leu113fs) rs118203367
NM_000368.5(TSC1):c.3399G>T (p.Leu1133=) rs2131589934
NM_000368.5(TSC1):c.33T>C (p.Leu11=) rs1329395556
NM_000368.5(TSC1):c.3412C>T (p.Pro1138Ser) rs2131589157
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=) rs759431801
NM_000368.5(TSC1):c.3432C>G (p.Thr1144=) rs1588285980
NM_000368.5(TSC1):c.3438C>G (p.Asp1146Glu)
NM_000368.5(TSC1):c.3443T>C (p.Val1148Ala)
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp) rs796053451
NM_000368.5(TSC1):c.3475A>C (p.Thr1159Pro) rs1216169846
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe) rs755799702
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro) rs118203368
NM_000368.5(TSC1):c.356G>T (p.Cys119Phe) rs1554820265
NM_000368.5(TSC1):c.362A>G (p.Lys121Arg) rs118203369
NM_000368.5(TSC1):c.363+1G>A rs118203372
NM_000368.5(TSC1):c.363+1G>T rs118203372
NM_000368.5(TSC1):c.363+1dup rs118203371
NM_000368.5(TSC1):c.363+47T>C rs118203375
NM_000368.5(TSC1):c.363+5G>A rs118203374
NM_000368.5(TSC1):c.363G>A (p.Lys121=) rs118203370
NM_000368.5(TSC1):c.364-15C>T rs1846686000
NM_000368.5(TSC1):c.364-1G>C rs118203376
NM_000368.5(TSC1):c.372dup (p.Asp125Ter) rs118203377
NM_000368.5(TSC1):c.381_383del (p.Val128del) rs118203378
NM_000368.5(TSC1):c.385dup (p.Leu129fs) rs397514852
NM_000368.5(TSC1):c.395G>A (p.Gly132Asp) rs397514784
NM_000368.5(TSC1):c.395G>C (p.Gly132Ala) rs397514784
NM_000368.5(TSC1):c.395_406delinsCA (p.Gly132fs) rs118203380
NM_000368.5(TSC1):c.396C>T (p.Gly132=) rs368922726
NM_000368.5(TSC1):c.397G>T (p.Val133Phe) rs118203381
NM_000368.5(TSC1):c.39G>A (p.Met13Ile) rs2132296041
NM_000368.5(TSC1):c.3G>A (p.Met1Ile)
NM_000368.5(TSC1):c.403G>T (p.Val135Leu)
NM_000368.5(TSC1):c.415A>G (p.Met139Val)
NM_000368.5(TSC1):c.425T>C (p.Met142Thr) rs886042190
NM_000368.5(TSC1):c.433C>T (p.Gln145Ter) rs118203382
NM_000368.5(TSC1):c.433_434del (p.Gln145fs) rs118203383
NM_000368.5(TSC1):c.43G>A (p.Asp15Asn) rs1554821020
NM_000368.5(TSC1):c.444A>G (p.Lys148=) rs2132189552
NM_000368.5(TSC1):c.445C>T (p.Gln149Ter) rs118203384
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser) rs118203385
NM_000368.5(TSC1):c.47C>T (p.Ser16Phe) rs774900322
NM_000368.5(TSC1):c.491G>T (p.Trp164Leu) rs118203387
NM_000368.5(TSC1):c.503A>G (p.Lys168Arg) rs1007335343
NM_000368.5(TSC1):c.504del (p.Lys168fs) rs118203389
NM_000368.5(TSC1):c.508+1G>A rs118203390
NM_000368.5(TSC1):c.508+1G>C rs118203390
NM_000368.5(TSC1):c.509-14G>T rs984165284
NM_000368.5(TSC1):c.509-15G>A rs118203391
NM_000368.5(TSC1):c.515dup (p.Ala173fs)
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.520G>T (p.Glu174Ter) rs118203392
NM_000368.5(TSC1):c.527_528del (p.Tyr176fs) rs118203394
NM_000368.5(TSC1):c.530del (p.Leu177fs) rs397514794
NM_000368.5(TSC1):c.539T>C (p.Leu180Pro) rs118203396
NM_000368.5(TSC1):c.542A>C (p.His181Pro) rs397515294
NM_000368.5(TSC1):c.542A>G (p.His181Arg) rs397515294
NM_000368.5(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.5(TSC1):c.553T>G (p.Tyr185Asp)
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr) rs1279777367
NM_000368.5(TSC1):c.563_564del (p.Phe188fs) rs118203399
NM_000368.5(TSC1):c.569G>C (p.Arg190Pro) rs118203402
NM_000368.5(TSC1):c.571C>G (p.Leu191Val)
NM_000368.5(TSC1):c.572T>A (p.Leu191His) rs118203403
NM_000368.5(TSC1):c.572T>G (p.Leu191Arg) rs118203403
NM_000368.5(TSC1):c.575del (p.Tyr192fs) rs118203405
NM_000368.5(TSC1):c.576T>G (p.Tyr192Ter) rs118203406
NM_000368.5(TSC1):c.585C>A (p.Tyr195Ter) rs118203407
NM_000368.5(TSC1):c.590dup (p.Cys197fs) rs397514868
NM_000368.5(TSC1):c.591dup (p.Asn198fs) rs397514836
NM_000368.5(TSC1):c.593_595del (p.Asn198_Phe199delinsIle) rs118203408
NM_000368.5(TSC1):c.597_603del (p.Val200fs) rs118203409
NM_000368.5(TSC1):c.599dup (p.Ser201fs) rs118203411
NM_000368.5(TSC1):c.600C>A (p.Val200=)
NM_000368.5(TSC1):c.602_604del (p.Ser201del) rs118203412
NM_000368.5(TSC1):c.607_608dup (p.Leu203fs) rs118203413
NM_000368.5(TSC1):c.611G>C (p.Arg204Pro) rs397514834
NM_000368.5(TSC1):c.622A>G (p.Ser208Gly)
NM_000368.5(TSC1):c.624del (p.Ser208fs) rs397514837
NM_000368.5(TSC1):c.642G>T (p.Glu214Asp) rs904190788
NM_000368.5(TSC1):c.647T>C (p.Phe216Ser) rs118203416
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer) rs118203417
NM_000368.5(TSC1):c.648del (p.Phe216fs) rs118203417
NM_000368.5(TSC1):c.654A>C (p.Glu218Asp)
NM_000368.5(TSC1):c.654dup (p.Val219fs) rs118203418
NM_000368.5(TSC1):c.660C>T (p.Val220=) rs1588346808
NM_000368.5(TSC1):c.663+10A>C rs397514833
NM_000368.5(TSC1):c.663+39dup rs118203421
NM_000368.5(TSC1):c.663+7T>A rs118203420
NM_000368.5(TSC1):c.664-15A>G rs118203422
NM_000368.5(TSC1):c.664-1G>C rs118203423
NM_000368.5(TSC1):c.665del (p.Pro222fs) rs118203425
NM_000368.5(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000368.5(TSC1):c.681G>C (p.Val227=)
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.5(TSC1):c.683G>A (p.Arg228Gln) rs1223799508
NM_000368.5(TSC1):c.690T>C (p.His230=) rs2132136607
NM_000368.5(TSC1):c.694G>T (p.Glu232Ter) rs118203429
NM_000368.5(TSC1):c.694del (p.Glu232fs) rs118203428
NM_000368.5(TSC1):c.696A>G (p.Glu232=) rs1588345709
NM_000368.5(TSC1):c.709dup (p.Ser237fs) rs118203430
NM_000368.5(TSC1):c.70del (p.Asp24fs) rs118203330
NM_000368.5(TSC1):c.712A>T (p.Lys238Ter) rs397514816
NM_000368.5(TSC1):c.720_721insA (p.Glu241fs) rs118203431
NM_000368.5(TSC1):c.724C>T (p.Leu242=) rs118203432
NM_000368.5(TSC1):c.732del (p.Arg245fs) rs118203433
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.737+1G>A rs118203438
NM_000368.5(TSC1):c.737+1G>T rs118203438
NM_000368.5(TSC1):c.737+1del rs118203435
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.5(TSC1):c.737G>C (p.Arg246Thr) rs118203436
NM_000368.5(TSC1):c.737G>T (p.Arg246Met)
NM_000368.5(TSC1):c.738-2A>G rs118203440
NM_000368.5(TSC1):c.738-36_747del rs397514839
NM_000368.5(TSC1):c.738G>A (p.Arg246=) rs118203441
NM_000368.5(TSC1):c.742A>T (p.Lys248Ter) rs118203442
NM_000368.5(TSC1):c.745A>T (p.Arg249Ter) rs118203443
NM_000368.5(TSC1):c.745del (p.Arg249fs) rs118203444
NM_000368.5(TSC1):c.747A>G (p.Arg249=)
NM_000368.5(TSC1):c.749T>A (p.Leu250Ter) rs118203447
NM_000368.5(TSC1):c.749T>C (p.Leu250Ser) rs118203447
NM_000368.5(TSC1):c.749T>G (p.Leu250Ter) rs118203447
NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer) rs118203445
NM_000368.5(TSC1):c.749dup (p.Leu250fs) rs118203445
NM_000368.5(TSC1):c.759T>C (p.His253=)
NM_000368.5(TSC1):c.771C>A (p.Ile257=) rs1060504854
NM_000368.5(TSC1):c.771del (p.Ile257fs) rs118203449
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter) rs118203450
NM_000368.5(TSC1):c.791T>C (p.Leu264Pro)
NM_000368.5(TSC1):c.792G>A (p.Leu264=) rs1257538409
NM_000368.5(TSC1):c.792_793dup (p.Asp265fs)
NM_000368.5(TSC1):c.799A>C (p.Thr267Pro)
NM_000368.5(TSC1):c.812_813del (p.Ser270_Tyr271insTer) rs118203451
NM_000368.5(TSC1):c.813T>A (p.Tyr271Ter) rs118203452
NM_000368.5(TSC1):c.814G>T (p.Glu272Ter) rs397514872
NM_000368.5(TSC1):c.81T>A (p.Ala27=)
NM_000368.5(TSC1):c.81T>C (p.Ala27=) rs1588363327
NM_000368.5(TSC1):c.824_825dup (p.Ser276fs) rs118203453
NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter) rs118203454
NM_000368.5(TSC1):c.831_832del (p.His279fs) rs118203455
NM_000368.5(TSC1):c.834_835del (p.His279fs) rs118203457
NM_000368.5(TSC1):c.838C>T (p.Gln280Ter) rs118203458
NM_000368.5(TSC1):c.83T>A (p.Val28Asp)
NM_000368.5(TSC1):c.844T>G (p.Ser282Ala)
NM_000368.5(TSC1):c.845C>A (p.Ser282Ter) rs118203459
NM_000368.5(TSC1):c.846dup (p.Ala283fs) rs118203460
NM_000368.5(TSC1):c.851G>T (p.Arg284Leu) rs151309813
NM_000368.5(TSC1):c.852C>T (p.Arg284=) rs769706203
NM_000368.5(TSC1):c.856C>T (p.Pro286Ser) rs1047485135
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter) rs397514867
NM_000368.5(TSC1):c.870C>T (p.Ala290=) rs779155575
NM_000368.5(TSC1):c.878C>T (p.Thr293Ile) rs756681916
NM_000368.5(TSC1):c.891T>A (p.Tyr297Ter) rs118203461
NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter) rs118203461
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala) rs796053456
NM_000368.5(TSC1):c.901C>T (p.Gln301Ter) rs118203463
NM_000368.5(TSC1):c.901_902del (p.Gln301fs) rs118203464
NM_000368.5(TSC1):c.901_913+1del rs118203465
NM_000368.5(TSC1):c.902A>G (p.Gln301Arg) rs1389512342
NM_000368.5(TSC1):c.906T>C (p.Asn302=)
NM_000368.5(TSC1):c.90A>G (p.Lys30=) rs1847032608
NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter) rs118203466
NM_000368.5(TSC1):c.912_913+5del rs118203467
NM_000368.5(TSC1):c.913+1G>A rs118203470
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg) rs118203468
NM_000368.5(TSC1):c.913G>T (p.Gly305Trp) rs118203468
NM_000368.5(TSC1):c.914-18T>C rs118203471
NM_000368.5(TSC1):c.915G>A (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.915G>T (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.91G>C (p.Glu31Gln) rs1847032440
NM_000368.5(TSC1):c.921T>C (p.Ala307=) rs397514826
NM_000368.5(TSC1):c.923C>A (p.Thr308Asn) rs1554817432
NM_000368.5(TSC1):c.929C>G (p.Thr310Ser)
NM_000368.5(TSC1):c.932C>T (p.Pro311Leu) rs776158460
NM_000368.5(TSC1):c.936C>A (p.Tyr312Ter) rs118203472
NM_000368.5(TSC1):c.959_965del (p.Leu320fs) rs1588324615
NM_000368.5(TSC1):c.95A>G (p.Asn32Ser) rs1222555421
NM_000368.5(TSC1):c.972G>A (p.Gly324=) rs118203473
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter) rs118203474
NM_000368.5(TSC1):c.974A>G (p.Gln325Arg) rs1564488890
NM_000368.5(TSC1):c.975G>T (p.Gln325His) rs1554817398
NM_000368.5(TSC1):c.978A>G (p.Leu326=) rs1060504862
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe) rs1847031671
NM_000368.5(TSC1):c.983dup (p.Thr329fs) rs118203475
NM_000368.5(TSC1):c.988_989del (p.Leu330fs) rs118203477
NM_000368.5(TSC1):c.988dup (p.Leu330fs) rs118203476
NM_000368.5(TSC1):c.989_990del (p.Leu330fs) rs118203479
NM_000368.5(TSC1):c.989del (p.Leu330fs) rs397514870
NM_000368.5(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000368.5(TSC1):c.994_995insA (p.Ser332fs) rs118203480
NM_000368.5(TSC1):c.9A>G (p.Gln3=) rs1588363733
TSC1:c.1142-22_1142-21del rs118203500

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