ClinVar Miner

List of variants in gene TSC1 reported as likely benign for Tuberous sclerosis 1

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Gene type:
ClinVar version:
Total variants: 1430
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_000368.5(TSC1):c.*2109C>T rs73552808 0.00200
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
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.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.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.*3988G>A rs563835484 0.00034
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000368.5(TSC1):c.2626-4T>C rs777386691 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_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.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.3435G>A (p.Pro1145=) rs140352085 0.00016
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.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000368.5(TSC1):c.467A>C (p.Asp156Ala) rs893232039 0.00012
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.-16G>A rs114970627 0.00010
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779 0.00010
NM_000368.5(TSC1):c.1333+5A>G rs118203515 0.00009
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557 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.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.1047A>G (p.Pro349=) rs118203492 0.00006
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile) rs201452238 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.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.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.73G>A (p.Val25Met) rs1230244328 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.110G>A (p.Arg37His) rs750441497 0.00004
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe) rs1461609607 0.00004
NM_000368.5(TSC1):c.1263+15G>A rs765809001 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.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.2922C>T (p.Leu974=) rs769389702 0.00004
NM_000368.5(TSC1):c.738-20A>G rs397514824 0.00004
NM_000368.5(TSC1):c.114C>G (p.Gly38=) rs776158461 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.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.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.2700G>A (p.Gln900=) rs560986491 0.00003
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys) rs200398750 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.503A>C (p.Lys168Thr) rs1007335343 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.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.-35G>A rs370122384 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.1290A>G (p.Pro430=) rs759914505 0.00002
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val) rs1489175329 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.1881G>A (p.Leu627=) rs766204646 0.00002
NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile) rs779584449 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.2115G>A (p.Glu705=) rs142662480 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.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.270C>T (p.Leu90=) rs142325036 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.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.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.569G>A (p.Arg190His) rs118203402 0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=) rs202242304 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.930C>T (p.Thr310=) rs759004332 0.00002
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00002
NM_000368.5(TSC1):c.1002G>A (p.Ser334=) rs200820603 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.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.1097C>T (p.Pro366Leu) rs763915012 0.00001
NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala) rs1412914051 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.1141+17T>C rs1335504392 0.00001
NM_000368.5(TSC1):c.1142-17C>G rs1845909117 0.00001
NM_000368.5(TSC1):c.1166G>A (p.Gly389Glu) rs752575728 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.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.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.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+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.1305A>G (p.Gln435=) rs1334781311 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.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.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.1562C>T (p.Ser521Leu) rs759379027 0.00001
NM_000368.5(TSC1):c.1571C>T (p.Ser524Phe) rs1276296733 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.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.1626G>A (p.Lys542=) rs756935981 0.00001
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu) rs770570830 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.1765C>T (p.Pro589Ser) rs1299279813 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.1795G>A (p.Gly599Arg) rs761959210 0.00001
NM_000368.5(TSC1):c.1809G>A (p.Pro603=) rs112434645 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.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.1975G>A (p.Ala659Thr) rs914628341 0.00001
NM_000368.5(TSC1):c.1997+16A>G rs755582593 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.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.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.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.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.2392-20G>T rs1181323344 0.00001
NM_000368.5(TSC1):c.2394G>A (p.Thr798=) rs1060504860 0.00001
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val) rs751128287 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.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.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.2636T>C (p.Met879Thr) rs754457018 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.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.2893T>A (p.Leu965Ile) rs1060503217 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.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.2994C>T (p.Asp998=) rs923543734 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.3047G>A (p.Gly1016Asp) rs1313165721 0.00001
NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp) rs375394001 0.00001
NM_000368.5(TSC1):c.3120C>T (p.Ser1040=) rs1289954163 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.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.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.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.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.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.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.3475A>T (p.Thr1159Ser) rs1216169846 0.00001
NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp) rs749746550 0.00001
NM_000368.5(TSC1):c.371C>G (p.Thr124Ser) rs747251435 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.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.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.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.819T>G (p.Asp273Glu) rs148756522 0.00001
NM_000368.5(TSC1):c.826T>C (p.Ser276Pro) rs774009225 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.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.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.135773000_135773001insCA rs1554813651
NM_000368.5(TSC1):c.1002G>C (p.Ser334=) rs200820603
NM_000368.5(TSC1):c.1005A>G (p.Thr335=) rs753091213
NM_000368.5(TSC1):c.1006C>A (p.Arg336=) rs118203483
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.1015A>T (p.Thr339Ser) rs570809282
NM_000368.5(TSC1):c.1017T>C (p.Thr339=)
NM_000368.5(TSC1):c.1023A>G (p.Pro341=) rs2131973361
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.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+8G>A rs1036865129
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.1030-4C>T
NM_000368.5(TSC1):c.1030-5C>T rs1588323218
NM_000368.5(TSC1):c.1030-8C>T rs2131965605
NM_000368.5(TSC1):c.1032T>A (p.Ala344=)
NM_000368.5(TSC1):c.1032T>C (p.Ala344=) rs2131965075
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+16T>G
NM_000368.5(TSC1):c.106+17C>A
NM_000368.5(TSC1):c.106+18C>A
NM_000368.5(TSC1):c.106+9A>C rs1554820969
NM_000368.5(TSC1):c.106+9A>G rs1554820969
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.107-20T>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.1089A>G (p.Gly363=) rs2131960560
NM_000368.5(TSC1):c.1095C>T (p.Val365=) rs2131960043
NM_000368.5(TSC1):c.109C>A (p.Arg37Ser) rs1309560054
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.1110A>C (p.Ser370=) rs371648887
NM_000368.5(TSC1):c.1113C>A (p.His371Gln) rs771217333
NM_000368.5(TSC1):c.1119C>T (p.Tyr373=)
NM_000368.5(TSC1):c.1128C>G (p.Val376=) rs1419093686
NM_000368.5(TSC1):c.1137A>T (p.Thr379=) rs2131956465
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+9G>A
NM_000368.5(TSC1):c.1141+9G>T rs2131955840
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.1143A>G (p.Ala381=) rs2131948061
NM_000368.5(TSC1):c.114C>T (p.Gly38=)
NM_000368.5(TSC1):c.1160C>T (p.Pro387Leu)
NM_000368.5(TSC1):c.1161T>C (p.Pro387=)
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.1173A>G (p.Pro391=) rs2131945460
NM_000368.5(TSC1):c.1179C>G (p.Thr393=)
NM_000368.5(TSC1):c.1179C>T (p.Thr393=) rs2131944935
NM_000368.5(TSC1):c.1194C>G (p.Ala398=) rs1060504861
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.1206T>C (p.His402=) rs1845902050
NM_000368.5(TSC1):c.1209G>C (p.Ser403=)
NM_000368.5(TSC1):c.1209G>T (p.Ser403=) rs141184479
NM_000368.5(TSC1):c.1212T>C (p.Asp404=) rs2131941843
NM_000368.5(TSC1):c.1219G>C (p.Val407Leu) rs769331772
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.5(TSC1):c.1230A>C (p.Ser410=) rs2131940277
NM_000368.5(TSC1):c.1236C>T (p.Pro412=) rs1588321355
NM_000368.5(TSC1):c.1245A>G (p.Thr415=) rs2131939065
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys) rs77464996
NM_000368.5(TSC1):c.1255C>G (p.Pro419Ala) rs765145057
NM_000368.5(TSC1):c.1256C>A (p.Pro419His) 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.1263+17C>T
NM_000368.5(TSC1):c.1263+18T>C
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>T
NM_000368.5(TSC1):c.1264-17G>T rs1845730385
NM_000368.5(TSC1):c.1264-6T>C rs370778877
NM_000368.5(TSC1):c.1264-8C>T
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.1290A>T (p.Pro430=)
NM_000368.5(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.5(TSC1):c.1299C>T (p.His433=)
NM_000368.5(TSC1):c.129C>T (p.Asn43=) rs2132270030
NM_000368.5(TSC1):c.12A>G (p.Gln4=) rs1588363707
NM_000368.5(TSC1):c.1317G>T (p.Leu439=)
NM_000368.5(TSC1):c.1323C>T (p.Asp441=) rs2131879178
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.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+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.1338G>A (p.Glu446=) rs1410493156
NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu) rs772868048
NM_000368.5(TSC1):c.1344T>C (p.Pro448=) rs530908428
NM_000368.5(TSC1):c.1347C>A (p.Gly449=) rs1588312954
NM_000368.5(TSC1):c.1347C>T (p.Gly449=)
NM_000368.5(TSC1):c.1350C>T (p.Ser450=) rs773780814
NM_000368.5(TSC1):c.1359T>C (p.Ser453=) rs1468470312
NM_000368.5(TSC1):c.1368A>G (p.Leu456=) rs397514856
NM_000368.5(TSC1):c.1383G>A (p.Gly461=)
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.1404T>C (p.Ser468=)
NM_000368.5(TSC1):c.1407A>G (p.Glu469=) rs1272855447
NM_000368.5(TSC1):c.1410A>G (p.Glu470=) rs2131863384
NM_000368.5(TSC1):c.1413T>C (p.Asp471=) rs1588312706
NM_000368.5(TSC1):c.1431A>G (p.Lys477=) rs2131862006
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+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.1439-20G>C
NM_000368.5(TSC1):c.1439-20_1439-9del rs1064792996
NM_000368.5(TSC1):c.1439-5C>T rs2131851498
NM_000368.5(TSC1):c.1439-7C>T rs1588311354
NM_000368.5(TSC1):c.1442C>A (p.Ala481Glu)
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.1461T>C (p.Ser487=) rs2131849603
NM_000368.5(TSC1):c.1464G>A (p.Glu488=) rs1588311193
NM_000368.5(TSC1):c.1467C>T (p.Ile489=) rs2131849203
NM_000368.5(TSC1):c.1470C>A (p.Thr490=) rs2131848951
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.1476A>C (p.Ala492=) rs1554816067
NM_000368.5(TSC1):c.1479G>C (p.Glu493Asp)
NM_000368.5(TSC1):c.147C>T (p.Tyr49=) rs2132268804
NM_000368.5(TSC1):c.1482A>G (p.Ala494=)
NM_000368.5(TSC1):c.1488T>C (p.Pro496=) rs2131847678
NM_000368.5(TSC1):c.1491G>A (p.Val497=) rs1554816056
NM_000368.5(TSC1):c.1497T>G (p.Pro499=) rs1588311053
NM_000368.5(TSC1):c.1510G>T (p.Asp504Tyr)
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.151G>C (p.Glu51Gln)
NM_000368.5(TSC1):c.1527A>C (p.Arg509=) rs2131844667
NM_000368.5(TSC1):c.1530C>T (p.Asp510=) rs1554816033
NM_000368.5(TSC1):c.1533T>C (p.Ser511=) rs1588310849
NM_000368.5(TSC1):c.1536C>T (p.Leu512=) rs1264512400
NM_000368.5(TSC1):c.1539A>T (p.Pro513=)
NM_000368.5(TSC1):c.1542T>G (p.Gly514=) rs2131843378
NM_000368.5(TSC1):c.1548G>A (p.Gln516=)
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.1563G>A (p.Ser521=) rs1554816005
NM_000368.5(TSC1):c.1563G>C (p.Ser521=) rs1554816005
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.1572C>G (p.Ser524=) rs397514810
NM_000368.5(TSC1):c.1581G>A (p.Gln527=) rs1554815989
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.159C>T (p.Ser53=) rs756335238
NM_000368.5(TSC1):c.15A>G (p.Ala5=)
NM_000368.5(TSC1):c.1602_1603delinsTG (p.Glu534_Pro535delinsAspAla) rs1554815972
NM_000368.5(TSC1):c.1611C>T (p.His537=) rs898271020
NM_000368.5(TSC1):c.1614C>T (p.Ser538=) rs878853961
NM_000368.5(TSC1):c.1617C>T (p.Ser539=) rs1554815969
NM_000368.5(TSC1):c.161C>G (p.Ser54Cys)
NM_000368.5(TSC1):c.1629T>C (p.Leu543=)
NM_000368.5(TSC1):c.1634C>T (p.Pro545Leu)
NM_000368.5(TSC1):c.1638C>T (p.Asp546=) rs2131836226
NM_000368.5(TSC1):c.1641A>G (p.Thr547=)
NM_000368.5(TSC1):c.1647G>A (p.Lys549=) rs2131835538
NM_000368.5(TSC1):c.1662C>T (p.Pro554=)
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.1679G>A (p.Gly560Asp) rs1395737285
NM_000368.5(TSC1):c.1686T>C (p.Ala562=)
NM_000368.5(TSC1):c.1695C>T (p.Ser565=) rs1845634405
NM_000368.5(TSC1):c.1701G>C (p.Ala567=) rs35478675
NM_000368.5(TSC1):c.1704A>C (p.Gly568=) rs1171240569
NM_000368.5(TSC1):c.1710G>A (p.Arg570=) rs777386797
NM_000368.5(TSC1):c.1713A>G (p.Glu571=) rs1588309781
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.172T>C (p.Leu58=) rs1564503254
NM_000368.5(TSC1):c.1734C>T (p.Thr578=) rs1251871091
NM_000368.5(TSC1):c.1737T>C (p.Ser579=) rs1588309585
NM_000368.5(TSC1):c.1744A>G (p.Thr582Ala) rs1564481573
NM_000368.5(TSC1):c.1746T>G (p.Thr582=) rs2131827290
NM_000368.5(TSC1):c.1749C>T (p.Pro583=) rs876659216
NM_000368.5(TSC1):c.174G>A (p.Leu58=)
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr) rs786203799
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.1758T>C (p.Cys586=) rs1301051974
NM_000368.5(TSC1):c.1773G>C (p.Pro591=)
NM_000368.5(TSC1):c.1773G>T (p.Pro591=) rs146578402
NM_000368.5(TSC1):c.1782G>A (p.Val594=) rs1588309238
NM_000368.5(TSC1):c.1785C>A (p.Gly595=) rs2131824070
NM_000368.5(TSC1):c.1797G>A (p.Gly599=)
NM_000368.5(TSC1):c.1800G>A (p.Gln600=)
NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu) rs543077026
NM_000368.5(TSC1):c.1806C>T (p.Pro602=)
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.1814A>T (p.Asp605Val) rs994264701
NM_000368.5(TSC1):c.1815T>C (p.Asp605=)
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.183G>A (p.Leu61=) rs1588359435
NM_000368.5(TSC1):c.1848C>G (p.Ala616=) rs752286096
NM_000368.5(TSC1):c.1851T>C (p.His617=) rs2131818787
NM_000368.5(TSC1):c.1854T>C (p.His618=) rs2131818460
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.186C>G (p.Thr62=) rs1554820640
NM_000368.5(TSC1):c.186C>T (p.Thr62=) rs1554820640
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.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.1893A>T (p.Ala631=) rs2131815302
NM_000368.5(TSC1):c.1897G>A (p.Gly633Arg) rs1471587230
NM_000368.5(TSC1):c.18T>C (p.Asn6=) rs2132296958
NM_000368.5(TSC1):c.1905A>G (p.Thr635=) rs2131814347
NM_000368.5(TSC1):c.1908G>A (p.Glu636=) rs1588308443
NM_000368.5(TSC1):c.1909G>A (p.Glu637Lys)
NM_000368.5(TSC1):c.1914T>C (p.Asp638=)
NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp) rs372583166
NM_000368.5(TSC1):c.1920G>A (p.Val640=)
NM_000368.5(TSC1):c.1920G>C (p.Val640=)
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.1944G>A (p.Val648=) rs1554815720
NM_000368.5(TSC1):c.1947G>A (p.Leu649=)
NM_000368.5(TSC1):c.1950C>T (p.Asp650=) rs1845608638
NM_000368.5(TSC1):c.1956G>T (p.Leu652=) rs2131810069
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.1980C>T (p.His660=) rs2131808112
NM_000368.5(TSC1):c.1986G>A (p.Lys662=) rs2131807682
NM_000368.5(TSC1):c.1989G>A (p.Glu663=)
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+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.1998-16A>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.1998-20C>T rs1845550517
NM_000368.5(TSC1):c.1998-24_1998-9dup rs2131789370
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.2001G>A (p.Leu667=)
NM_000368.5(TSC1):c.2010C>T (p.Pro670=) rs1588305958
NM_000368.5(TSC1):c.2016G>A (p.Lys672=) rs748487106
NM_000368.5(TSC1):c.201A>C (p.Pro67=) rs371555137
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.2023G>A (p.Asp675Asn) rs768189353
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.2037T>C (p.Phe679=)
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu) rs118203623
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+5del rs1564479424
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.2042-19C>T
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.2064C>A (p.Ile688=) rs878853963
NM_000368.5(TSC1):c.2070C>T (p.Thr690=) rs780223819
NM_000368.5(TSC1):c.2073C>T (p.Leu691=) rs2131772489
NM_000368.5(TSC1):c.2082G>A (p.Gln694=) rs2131771543
NM_000368.5(TSC1):c.2083T>C (p.Leu695=) rs2131771425
NM_000368.5(TSC1):c.2094G>A (p.Leu698=) rs2131770442
NM_000368.5(TSC1):c.2094G>T (p.Leu698=)
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+7G>T rs2132264554
NM_000368.5(TSC1):c.2100C>T (p.Asn700=)
NM_000368.5(TSC1):c.2103G>A (p.Gln701=) rs118203639
NM_000368.5(TSC1):c.2109C>G (p.Leu703=) rs1440846632
NM_000368.5(TSC1):c.211-10del rs1060504859
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.211-19T>C rs2132240965
NM_000368.5(TSC1):c.211-19dup
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.2111A>G (p.Tyr704Cys) rs752054698
NM_000368.5(TSC1):c.2118T>C (p.Arg706=) rs2131766639
NM_000368.5(TSC1):c.2127G>A (p.Arg709=)
NM_000368.5(TSC1):c.2136T>C (p.His712=) rs1554815286
NM_000368.5(TSC1):c.2138C>G (p.Ala713Gly)
NM_000368.5(TSC1):c.213C>T (p.His71=)
NM_000368.5(TSC1):c.2145G>T (p.Arg715=) rs1379334013
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>T (p.Leu72Phe) rs759183842
NM_000368.5(TSC1):c.2151G>A (p.Arg717=) rs1301689988
NM_000368.5(TSC1):c.2157C>T (p.Leu719=) rs1472557024
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.2169G>A (p.Val723=) rs2131760066
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.2195A>G (p.His732Arg) rs878853964
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.2202T>C (p.Ala734=)
NM_000368.5(TSC1):c.2208+10G>A
NM_000368.5(TSC1):c.2208+10G>T rs945077563
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+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.2209-11G>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.2209-5G>C rs1588302154
NM_000368.5(TSC1):c.2209-7C>T
NM_000368.5(TSC1):c.2213A>G (p.Asp738Gly)
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.2220G>A (p.Leu740=) rs1588302073
NM_000368.5(TSC1):c.2223G>A (p.Lys741=) rs1588302038
NM_000368.5(TSC1):c.2229A>G (p.Gln743=)
NM_000368.5(TSC1):c.222C>T (p.Asp74=) rs1846821570
NM_000368.5(TSC1):c.2235G>A (p.Lys745=) rs753265422
NM_000368.5(TSC1):c.2238C>T (p.Asp746=)
NM_000368.5(TSC1):c.2240T>C (p.Ile747Thr)
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.2272C>A (p.Gln758Lys) rs397514783
NM_000368.5(TSC1):c.2277T>C (p.Ala759=)
NM_000368.5(TSC1):c.2283C>T (p.Tyr761=)
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.2292C>G (p.Leu764=) rs2131735763
NM_000368.5(TSC1):c.2337C>T (p.Ile779=)
NM_000368.5(TSC1):c.2343G>A (p.Gln781=) rs2131731368
NM_000368.5(TSC1):c.2349G>A (p.Gln783=)
NM_000368.5(TSC1):c.2361G>A (p.Glu787=)
NM_000368.5(TSC1):c.2364A>G (p.Glu788=) rs1588301218
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.237T>C (p.Tyr79=) rs761596603
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+8C>T rs1554814904
NM_000368.5(TSC1):c.2391+9T>G rs1564476986
NM_000368.5(TSC1):c.2392-12C>G rs1845382479
NM_000368.5(TSC1):c.2392-13T>A
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.2392-20G>A
NM_000368.5(TSC1):c.2392-5G>A rs1463016849
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.2397G>A (p.Lys799=)
NM_000368.5(TSC1):c.2398C>T (p.Leu800=) rs2131709896
NM_000368.5(TSC1):c.2400G>A (p.Leu800=) rs2131709742
NM_000368.5(TSC1):c.2400G>C (p.Leu800=)
NM_000368.5(TSC1):c.2412G>A (p.Arg804=) rs1554814676
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.2427G>A (p.Glu809=) rs2131707778
NM_000368.5(TSC1):c.2428C>G (p.Leu810Val)
NM_000368.5(TSC1):c.2430G>A (p.Leu810=) rs2131707611
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.243C>T (p.Gly81=) rs1588355789
NM_000368.5(TSC1):c.2440C>T (p.Leu814=) rs199517042
NM_000368.5(TSC1):c.2442G>A (p.Leu814=) rs2131706727
NM_000368.5(TSC1):c.2448G>A (p.Lys816=) rs1588299142
NM_000368.5(TSC1):c.2457C>T (p.Asn819=) rs1471536624
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg) rs1369700443
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.2469C>T (p.His823=)
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.2478G>A (p.Leu826=) rs149719514
NM_000368.5(TSC1):c.247G>A (p.Ala83Thr) rs76667066
NM_000368.5(TSC1):c.2484C>T (p.Leu828=)
NM_000368.5(TSC1):c.2490G>A (p.Gln830=) rs2131703243
NM_000368.5(TSC1):c.2499A>G (p.Gln833=) rs1554814615
NM_000368.5(TSC1):c.24G>C (p.Gly8=)
NM_000368.5(TSC1):c.2502+11del
NM_000368.5(TSC1):c.2502+17C>A
NM_000368.5(TSC1):c.2502+8G>T rs2131702325
NM_000368.5(TSC1):c.2502+8_2502+10del rs762882968
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.2503-15A>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.2503-3T>C rs1355806067
NM_000368.5(TSC1):c.2503-4T>C rs772414581
NM_000368.5(TSC1):c.2503-8T>C
NM_000368.5(TSC1):c.2503-9T>G rs1845337720
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.2511C>T (p.Asn837=) rs1554814448
NM_000368.5(TSC1):c.2514T>C (p.Ser838=) rs786203259
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.2532G>A (p.Gln844=) rs2131688269
NM_000368.5(TSC1):c.2538G>A (p.Glu846=)
NM_000368.5(TSC1):c.2547C>T (p.Asn849=) rs1554814418
NM_000368.5(TSC1):c.2556G>A (p.Leu852=)
NM_000368.5(TSC1):c.2556G>T (p.Leu852=) rs770381040
NM_000368.5(TSC1):c.2557T>C (p.Leu853=) rs2131687370
NM_000368.5(TSC1):c.255T>C (p.Thr85=) rs1060504856
NM_000368.5(TSC1):c.2560G>A (p.Val854Ile)
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys) rs1463772907
NM_000368.5(TSC1):c.2574C>A (p.Val858=) rs1588297282
NM_000368.5(TSC1):c.2578G>A (p.Glu860Lys) rs1169898186
NM_000368.5(TSC1):c.2580G>A (p.Glu860=) rs1845329120
NM_000368.5(TSC1):c.2583C>A (p.Leu861=)
NM_000368.5(TSC1):c.2587T>C (p.Leu863=)
NM_000368.5(TSC1):c.2601G>A (p.Gln867=) rs2131685313
NM_000368.5(TSC1):c.2607G>A (p.Lys869=) rs1845327520
NM_000368.5(TSC1):c.2613A>G (p.Ser871=) rs1031508405
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+20C>G rs2131683620
NM_000368.5(TSC1):c.2625+367del rs2131679212
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.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.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-3_2626-2insT 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.2626-6_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.2628A>G (p.Glu876=) rs1588291185
NM_000368.5(TSC1):c.2635A>G (p.Met879Val) rs778416424
NM_000368.5(TSC1):c.2646C>A (p.Ala882=)
NM_000368.5(TSC1):c.2649C>G (p.Ala883=) rs1279318276
NM_000368.5(TSC1):c.264C>T (p.Ser88=)
NM_000368.5(TSC1):c.2652T>C (p.Tyr884=)
NM_000368.5(TSC1):c.2662C>T (p.Leu888=)
NM_000368.5(TSC1):c.2664A>G (p.Leu888=) rs2131638076
NM_000368.5(TSC1):c.2665_2666delinsAT (p.Glu889Ile) rs587778724
NM_000368.5(TSC1):c.2667A>G (p.Glu889=) rs1554813546
NM_000368.5(TSC1):c.2679C>T (p.Ser893=) rs374311456
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.2686C>A (p.Leu896Ile) rs377132822
NM_000368.5(TSC1):c.2688C>G (p.Leu896=) rs2131636756
NM_000368.5(TSC1):c.2691G>A (p.Gln897=)
NM_000368.5(TSC1):c.2703G>A (p.Arg901=)
NM_000368.5(TSC1):c.2707G>C (p.Asp903His)
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.2722C>A (p.Arg908=)
NM_000368.5(TSC1):c.272C>T (p.Ser91Leu) rs118203361
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.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.2755A>C (p.Lys919Gln) rs1319954878
NM_000368.5(TSC1):c.2757A>G (p.Lys919=) rs2131632795
NM_000368.5(TSC1):c.2760C>T (p.Asp920=) rs1226490074
NM_000368.5(TSC1):c.2778G>A (p.Gln926=) rs1554813423
NM_000368.5(TSC1):c.2787T>C (p.Tyr929=) rs753980869
NM_000368.5(TSC1):c.2788C>T (p.Leu930=)
NM_000368.5(TSC1):c.2790A>G (p.Leu930=) rs2131631187
NM_000368.5(TSC1):c.2805C>T (p.Leu935=)
NM_000368.5(TSC1):c.2808G>A (p.Gln936=) rs1588290331
NM_000368.5(TSC1):c.2811A>G (p.Ala937=)
NM_000368.5(TSC1):c.2813+10A>C
NM_000368.5(TSC1):c.2813+5C>T rs1060503223
NM_000368.5(TSC1):c.2813+9C>G
NM_000368.5(TSC1):c.2814-11G>A rs1287695326
NM_000368.5(TSC1):c.2814-13C>T rs1393952049
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.2814-7C>T rs1060504851
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.2832A>G (p.Ala944=) rs2131628099
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.2844T>C (p.Tyr948=)
NM_000368.5(TSC1):c.2853G>A (p.Gln951=) rs2131627425
NM_000368.5(TSC1):c.2864C>A (p.Thr955Asn) rs1488726432
NM_000368.5(TSC1):c.2868G>A (p.Gln956=) rs2131626958
NM_000368.5(TSC1):c.2874T>C (p.Phe958=) rs2131626672
NM_000368.5(TSC1):c.2898T>C (p.Tyr966=) rs1057522171
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.2916T>C (p.Asp972=) rs775179927
NM_000368.5(TSC1):c.2923C>T (p.Leu975=)
NM_000368.5(TSC1):c.2925G>A (p.Leu975=)
NM_000368.5(TSC1):c.2934T>C (p.Leu978=) rs1554813253
NM_000368.5(TSC1):c.2945A>G (p.Lys982Arg) rs1057520508
NM_000368.5(TSC1):c.2958T>C (p.Ala986=)
NM_000368.5(TSC1):c.295C>T (p.Leu99=) rs2132233679
NM_000368.5(TSC1):c.2967A>G (p.Ala989=)
NM_000368.5(TSC1):c.2967A>T (p.Ala989=)
NM_000368.5(TSC1):c.2973A>G (p.Glu991=)
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+20T>A
NM_000368.5(TSC1):c.2975+20T>G
NM_000368.5(TSC1):c.2975+4G>C rs1057521710
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>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.2984G>A (p.Cys995Tyr) rs144314195
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.2997G>A (p.Gly999=) rs1437222540
NM_000368.5(TSC1):c.3000C>T (p.Cys1000=)
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.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.3024T>C (p.Asn1008=) rs142954164
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.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.3042C>T (p.His1014=) rs1394343524
NM_000368.5(TSC1):c.3051G>A (p.Glu1017=)
NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu) rs1317622700
NM_000368.5(TSC1):c.3060C>A (p.Thr1020=)
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=) rs1380396209
NM_000368.5(TSC1):c.3063C>T (p.Pro1021=) rs2131612277
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.3069C>T (p.Pro1023=) rs1588287899
NM_000368.5(TSC1):c.3072C>T (p.Ser1024=) rs1554812912
NM_000368.5(TSC1):c.3084C>T (p.Gly1028=)
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.30T>A (p.Leu10=)
NM_000368.5(TSC1):c.3105T>A (p.Gly1035=) rs1588287659
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu) rs774196458
NM_000368.5(TSC1):c.3111C>G (p.Gly1037=) rs2131608875
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.3114C>T (p.Ser1038=) rs1588287598
NM_000368.5(TSC1):c.3115A>C (p.Ser1039Arg) rs1490199228
NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn) rs148931779
NM_000368.5(TSC1):c.3126C>T (p.Ser1042=)
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.3141C>A (p.Thr1047=) rs892228756
NM_000368.5(TSC1):c.3141C>T (p.Thr1047=) rs892228756
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.3159C>T (p.His1053=) rs778413037
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.3174A>G (p.Pro1058=)
NM_000368.5(TSC1):c.3175T>C (p.Phe1059Leu) rs1379924767
NM_000368.5(TSC1):c.3177C>T (p.Phe1059=) rs753263747
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.318G>A (p.Lys106=)
NM_000368.5(TSC1):c.3192G>A (p.Glu1064=)
NM_000368.5(TSC1):c.3195G>T (p.Thr1065=)
NM_000368.5(TSC1):c.3198T>G (p.Thr1066=) rs1845061945
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val) rs1060503200
NM_000368.5(TSC1):c.3213T>C (p.Ser1071=) rs2131601196
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.321C>T (p.Leu107=) rs2132232165
NM_000368.5(TSC1):c.3222C>G (p.Ile1074Met)
NM_000368.5(TSC1):c.3225C>T (p.Pro1075=)
NM_000368.5(TSC1):c.3228C>A (p.Thr1076=) rs140622357
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.3246C>A (p.Pro1082=) rs2131599043
NM_000368.5(TSC1):c.3246C>T (p.Pro1082=) rs2131599043
NM_000368.5(TSC1):c.3261C>T (p.Phe1087=) rs2131598168
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.3276T>G (p.Ala1092=) rs2131597261
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) 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.3305G>A (p.Ser1102Asn) rs1263464680
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.3315T>C (p.Asp1105=)
NM_000368.5(TSC1):c.3318G>A (p.Glu1106=) rs2131594665
NM_000368.5(TSC1):c.3336C>T (p.Ser1112=) rs761334590
NM_000368.5(TSC1):c.3351A>C (p.Leu1117=)
NM_000368.5(TSC1):c.3357A>G (p.Thr1119=) rs2131592505
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.3372C>T (p.Asp1124=)
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.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.33T>C (p.Leu11=) rs1329395556
NM_000368.5(TSC1):c.3403C>T (p.Leu1135=) rs749612772
NM_000368.5(TSC1):c.3411C>A (p.Gly1137=)
NM_000368.5(TSC1):c.3413C>A (p.Pro1138His) rs756449737
NM_000368.5(TSC1):c.3417C>T (p.His1139=) rs756737864
NM_000368.5(TSC1):c.3423T>A (p.Ser1141=)
NM_000368.5(TSC1):c.3423T>C (p.Ser1141=) rs1564469544
NM_000368.5(TSC1):c.3426C>T (p.Pro1142=) rs758286878
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.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.3453A>G (p.Leu1151=) rs1554812550
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.3459C>T (p.Ile1153=) rs1290663446
NM_000368.5(TSC1):c.346T>C (p.Leu116=) rs199620268
NM_000368.5(TSC1):c.3471T>C (p.Asn1157=)
NM_000368.5(TSC1):c.3480T>C (p.His1160=)
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.349C>T (p.Leu117=)
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+7T>A
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.364-20T>G
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.369C>T (p.Asp123=) rs2132194269
NM_000368.5(TSC1):c.36C>A (p.Ala12=) rs1588363584
NM_000368.5(TSC1):c.372T>G (p.Thr124=) rs1237342078
NM_000368.5(TSC1):c.391A>G (p.Thr131Ala) rs1564499857
NM_000368.5(TSC1):c.393A>C (p.Thr131=)
NM_000368.5(TSC1):c.395G>C (p.Gly132Ala) rs397514784
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.405G>A (p.Val135=)
NM_000368.5(TSC1):c.420A>G (p.Leu140=) rs1588350620
NM_000368.5(TSC1):c.423A>G (p.Pro141=) rs1846677189
NM_000368.5(TSC1):c.42G>A (p.Leu14=) rs762233181
NM_000368.5(TSC1):c.42G>C (p.Leu14=)
NM_000368.5(TSC1):c.432A>C (p.Pro144=) rs1366888701
NM_000368.5(TSC1):c.435G>A (p.Gln145=)
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.447G>A (p.Gln149=)
NM_000368.5(TSC1):c.450T>C (p.His150=)
NM_000368.5(TSC1):c.468C>T (p.Asp156=) rs1588350435
NM_000368.5(TSC1):c.477C>T (p.Gly159=) rs2132187799
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.483G>A (p.Leu161=)
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.495C>T (p.Cys165=) rs118203388
NM_000368.5(TSC1):c.508+13T>C
NM_000368.5(TSC1):c.508+14C>G
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.509-14G>A
NM_000368.5(TSC1):c.509-14G>T rs984165284
NM_000368.5(TSC1):c.509-15_509-14delinsCT rs2132163342
NM_000368.5(TSC1):c.509-18A>G rs953918061
NM_000368.5(TSC1):c.509-4C>G rs2132162807
NM_000368.5(TSC1):c.509-5T>C rs1846593189
NM_000368.5(TSC1):c.509-9C>G rs1275897593
NM_000368.5(TSC1):c.509-9del rs1436371020
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.522A>G (p.Glu174=)
NM_000368.5(TSC1):c.525C>G (p.Val175=) rs2132161260
NM_000368.5(TSC1):c.528T>C (p.Tyr176=)
NM_000368.5(TSC1):c.540C>G (p.Leu180=) rs201562103
NM_000368.5(TSC1):c.542A>G (p.His181Arg) rs397515294
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.552G>A (p.Val184=) rs118203397
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr) rs1279777367
NM_000368.5(TSC1):c.558A>G (p.Ala186=) rs2132158268
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.564T>C (p.Phe188=) rs2132157821
NM_000368.5(TSC1):c.567T>C (p.His189=) rs2132157565
NM_000368.5(TSC1):c.573T>G (p.Leu191=)
NM_000368.5(TSC1):c.576T>C (p.Tyr192=) rs118203406
NM_000368.5(TSC1):c.57G>C (p.Leu19=) rs2132295317
NM_000368.5(TSC1):c.585C>T (p.Tyr195=) rs118203407
NM_000368.5(TSC1):c.603C>A (p.Ser201=) rs777571943
NM_000368.5(TSC1):c.60T>G (p.Gly20=) rs1293816362
NM_000368.5(TSC1):c.611G>A (p.Arg204His) rs397514834
NM_000368.5(TSC1):c.621C>T (p.Tyr207=)
NM_000368.5(TSC1):c.633A>G (p.Glu211=) rs753550247
NM_000368.5(TSC1):c.636C>T (p.Asn212=)
NM_000368.5(TSC1):c.637C>T (p.Leu213=) rs999904570
NM_000368.5(TSC1):c.639G>A (p.Leu213=) rs2132151091
NM_000368.5(TSC1):c.642G>A (p.Glu214=)
NM_000368.5(TSC1):c.64C>A (p.Arg22=)
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.660C>G (p.Val220=) rs1588346808
NM_000368.5(TSC1):c.660C>T (p.Val220=) rs1588346808
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+20T>C rs2132147919
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.664-11A>G
NM_000368.5(TSC1):c.664-11A>T
NM_000368.5(TSC1):c.664-12C>T
NM_000368.5(TSC1):c.664-16A>T
NM_000368.5(TSC1):c.664-17C>T
NM_000368.5(TSC1):c.664-18T>C rs2132139374
NM_000368.5(TSC1):c.664-4C>G rs2132138750
NM_000368.5(TSC1):c.664-7C>T rs2132138899
NM_000368.5(TSC1):c.664-9C>T rs757752536
NM_000368.5(TSC1):c.66G>A (p.Arg22=) rs2132294888
NM_000368.5(TSC1):c.675G>A (p.Glu225=) rs1846548662
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.693G>A (p.Pro231=) rs749311040
NM_000368.5(TSC1):c.696A>G (p.Glu232=) rs1588345709
NM_000368.5(TSC1):c.711C>T (p.Ser237=) rs1588345678
NM_000368.5(TSC1):c.712A>G (p.Lys238Glu)
NM_000368.5(TSC1):c.714G>A (p.Lys238=) rs2132134730
NM_000368.5(TSC1):c.720T>C (p.His240=)
NM_000368.5(TSC1):c.723A>G (p.Glu241=)
NM_000368.5(TSC1):c.724C>T (p.Leu242=) rs118203432
NM_000368.5(TSC1):c.726G>C (p.Leu242=) rs2132133780
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+17del
NM_000368.5(TSC1):c.737+19A>G rs1162425973
NM_000368.5(TSC1):c.737+20A>C rs764271835
NM_000368.5(TSC1):c.737+8A>T
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.738-9A>G rs1846021685
NM_000368.5(TSC1):c.745A>C (p.Arg249=)
NM_000368.5(TSC1):c.750A>G (p.Leu250=) rs2132006420
NM_000368.5(TSC1):c.756T>G (p.Thr252=) rs2132006065
NM_000368.5(TSC1):c.765T>G (p.Val255=) rs1588327624
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.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.792G>A (p.Leu264=) rs1257538409
NM_000368.5(TSC1):c.806C>A (p.Ala269Asp) rs1347033062
NM_000368.5(TSC1):c.807C>T (p.Ala269=)
NM_000368.5(TSC1):c.813T>C (p.Tyr271=) rs118203452
NM_000368.5(TSC1):c.816A>G (p.Glu272=) rs2132001195
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.825T>C (p.Tyr275=)
NM_000368.5(TSC1):c.828T>A (p.Ser276=) rs1588327195
NM_000368.5(TSC1):c.828T>C (p.Ser276=)
NM_000368.5(TSC1):c.839A>G (p.Gln280Arg)
NM_000368.5(TSC1):c.846A>G (p.Ser282=) rs768226293
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.867A>G (p.Ser289=) rs1588326877
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.876C>G (p.Val292=) rs116756594
NM_000368.5(TSC1):c.879C>T (p.Thr293=) rs1554817584
NM_000368.5(TSC1):c.882C>T (p.Thr294=) rs1588326689
NM_000368.5(TSC1):c.885C>T (p.Ser295=)
NM_000368.5(TSC1):c.886C>T (p.Pro296Ser) rs750890263
NM_000368.5(TSC1):c.888T>C (p.Pro296=)
NM_000368.5(TSC1):c.891T>C (p.Tyr297=) rs118203461
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.903G>A (p.Gln301=) rs762200890
NM_000368.5(TSC1):c.90A>G (p.Lys30=) rs1847032608
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+19A>G rs2131992657
NM_000368.5(TSC1):c.913+20C>G
NM_000368.5(TSC1):c.913+20C>T
NM_000368.5(TSC1):c.913+7A>C rs2131993085
NM_000368.5(TSC1):c.913+8G>A
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.914-4T>G rs2131982922
NM_000368.5(TSC1):c.914-7A>G rs1588325018
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.918T>C (p.Cys306=) rs34610255
NM_000368.5(TSC1):c.921T>G (p.Ala307=)
NM_000368.5(TSC1):c.924T>C (p.Thr308=)
NM_000368.5(TSC1):c.931C>A (p.Pro311Thr) rs1332186256
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.942G>T (p.Thr314=) rs144208203
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.954GTT[1] (p.Leu320del) rs755655903
NM_000368.5(TSC1):c.957G>A (p.Leu319=) rs1845961446
NM_000368.5(TSC1):c.965_966delinsCT (p.Met322Thr) rs1588324568
NM_000368.5(TSC1):c.965_966inv (p.Met322Thr)
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.975G>A (p.Gln325=) 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.984G>A (p.Gln328=) rs2131977316
NM_000368.5(TSC1):c.988C>T (p.Leu330=) rs1060503222
NM_000368.5(TSC1):c.993T>C (p.Ser331=) rs1588324306
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.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

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