ClinVar Miner

List of variants in gene TSC1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 675
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.738-3259C>T rs4367688 0.41783
NM_000368.5(TSC1):c.210+290T>C rs10901223 0.40071
NM_000368.5(TSC1):c.2625+68G>A rs1076160 0.37310
NM_000368.5(TSC1):c.2625+572A>G rs2284902 0.20090
NM_000368.5(TSC1):c.2503-117G>T rs7020438 0.20085
NM_000368.5(TSC1):c.2392-35T>C rs11243931 0.20073
NM_000368.5(TSC1):c.2041+268A>G rs12345576 0.20038
NM_000368.5(TSC1):c.2626-117G>A rs12350276 0.19706
NM_000368.5(TSC1):c.1264-191dup rs35494652 0.16060
NM_000368.5(TSC1):c.1439-37C>T rs10901220 0.16021
NM_000368.5(TSC1):c.1333+209C>T rs7872860 0.16018
NM_000368.5(TSC1):c.1438+92G>T rs7870151 0.16012
NM_000368.5(TSC1):c.1439-183C>G rs10901221 0.15999
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.2502+131C>T rs7020175 0.09439
NM_000368.5(TSC1):c.1264-211G>A rs10901222 0.09433
NM_000368.5(TSC1):c.1334-55C>G rs7872606 0.09429
NM_000368.5(TSC1):c.2208+211G>A rs10901219 0.09428
NM_000368.5(TSC1):c.107-148A>C rs10901224 0.09401
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.2208+171A>G rs2519757 0.04598
NM_000368.5(TSC1):c.737+142T>G rs17408598 0.03973
NM_000368.5(TSC1):c.*376C>T rs114064768 0.02541
NM_000368.5(TSC1):c.2976-43G>C rs7853849 0.02474
NM_000368.5(TSC1):c.2975+101A>G rs112528984 0.02441
NM_000368.5(TSC1):c.1334-174T>C rs117147322 0.02265
NM_000368.5(TSC1):c.1263+315C>T rs142311240 0.01869
NC_000009.12:g.132944745G>T rs144677866 0.01771
NM_000368.5(TSC1):c.737+283A>G rs117521590 0.01556
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000368.5(TSC1):c.2975+127G>T rs113469460 0.01246
NM_000368.5(TSC1):c.-129A>T rs116951280 0.01206
NM_000368.5(TSC1):c.211-157G>A rs150221955 0.01035
NM_000368.5(TSC1):c.1264-184T>C rs45467998 0.00924
NM_000368.5(TSC1):c.2392-222C>T rs141011030 0.00908
NM_000368.5(TSC1):c.2391+34G>A rs116518821 0.00903
NM_000368.5(TSC1):c.1333+187A>G rs114683952 0.00894
NM_000368.5(TSC1):c.738-3141A>C rs111801465 0.00864
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.508+99T>C rs138277642 0.00645
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_000368.5(TSC1):c.211-286T>C rs9942877 0.00462
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_000368.5(TSC1):c.1997+133A>G rs190614659 0.00444
NM_000368.5(TSC1):c.2625+75A>T rs73660291 0.00406
NC_000009.12:g.132944713A>G rs115132103 0.00404
NM_000368.5(TSC1):c.107-113_107-112del rs527611975 0.00401
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.106+187G>T rs79398892 0.00270
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_000368.5(TSC1):c.1263+88A>G rs118203507 0.00250
NC_000009.12:g.132944772C>T rs538491949 0.00202
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.106+15A>G rs80258442 0.00187
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_000368.5(TSC1):c.*2904G>T rs559978998 0.00163
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00155
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000368.5(TSC1):c.-143-17A>G rs116631378 0.00127
NM_000368.5(TSC1):c.*3830C>T rs544931538 0.00120
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_000368.5(TSC1):c.876C>T (p.Val292=) rs116756594 0.00104
NM_000368.5(TSC1):c.552G>C (p.Val184=) rs118203397 0.00079
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln) rs118203543 0.00070
NM_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_000368.5(TSC1):c.*358C>T rs147729052 0.00066
NM_000368.5(TSC1):c.*279T>G rs554637460 0.00061
NM_000368.5(TSC1):c.*4680G>T rs747969932 0.00055
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.250G>A (p.Ala84Thr) rs118203357 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.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.1677C>T (p.Cys559=) rs368317116 0.00021
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.1700C>T (p.Ala567Val) rs397514880 0.00016
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_000368.5(TSC1):c.201A>G (p.Pro67=) rs371555137 0.00016
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=) rs140352085 0.00016
NM_000368.5(TSC1):c.2209-3T>C rs368309229 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000368.5(TSC1):c.249C>T (p.Ala83=) rs145783693 0.00013
NM_000368.5(TSC1):c.2502+18A>C rs200908079 0.00013
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164 0.00013
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr) rs118203721 0.00012
NM_000368.5(TSC1):c.467A>C (p.Asp156Ala) rs893232039 0.00012
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 0.00011
NM_000368.5(TSC1):c.210+18A>G rs118203349 0.00011
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln) rs118203692 0.00011
NM_000368.5(TSC1):c.2423C>T (p.Ala808Val) rs756514375 0.00010
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779 0.00010
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=) rs118203751 0.00010
NM_000368.5(TSC1):c.1333+5A>G rs118203515 0.00009
NM_000368.5(TSC1):c.1438+6G>A rs118203530 0.00009
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557 0.00008
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln) rs549467159 0.00008
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser) rs537585211 0.00008
NM_000368.5(TSC1):c.851G>A (p.Arg284His) rs151309813 0.00008
NM_000368.5(TSC1):c.1051A>G (p.Met351Val) rs781312535 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.1209G>A (p.Ser403=) rs141184479 0.00006
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu) rs751247705 0.00006
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839 0.00006
NM_000368.5(TSC1):c.513C>T (p.His171=) rs377196837 0.00006
NM_000368.5(TSC1):c.625A>G (p.Met209Val) rs754980229 0.00006
NM_000368.5(TSC1):c.-36C>T rs772626361 0.00005
NM_000368.5(TSC1):c.1110A>T (p.Ser370=) rs371648887 0.00005
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val) rs372583166 0.00005
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln) rs200514807 0.00005
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser) rs76801599 0.00005
NM_000368.5(TSC1):c.3210G>A (p.Ala1070=) rs201165286 0.00005
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu) rs751126355 0.00005
NM_000368.5(TSC1):c.479G>A (p.Arg160His) rs749979841 0.00005
NM_000368.5(TSC1):c.618T>C (p.His206=) rs118203415 0.00005
NM_000368.5(TSC1):c.73G>A (p.Val25Met) rs1230244328 0.00005
NM_000368.5(TSC1):c.853T>G (p.Phe285Val) rs377076733 0.00005
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg) rs375144225 0.00005
NM_000368.5(TSC1):c.946C>T (p.Arg316Trp) rs535868591 0.00005
NM_000368.5(TSC1):c.*2638C>T rs373845353 0.00004
NM_000368.5(TSC1):c.110G>A (p.Arg37His) rs750441497 0.00004
NM_000368.5(TSC1):c.1264-9T>C rs1399728684 0.00004
NM_000368.5(TSC1):c.1332A>G (p.Ser444=) rs773003016 0.00004
NM_000368.5(TSC1):c.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.2922C>T (p.Leu974=) rs769389702 0.00004
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=) rs759047948 0.00004
NM_000368.5(TSC1):c.-144G>A rs796053468 0.00003
NM_000368.5(TSC1):c.-80-2A>G rs587778003 0.00003
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_000368.5(TSC1):c.1317G>C (p.Leu439=) rs770692313 0.00003
NM_000368.5(TSC1):c.1439-4T>C rs762473323 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.1949A>G (p.Asp650Gly) rs939275328 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.3129C>T (p.Ser1043=) rs201192125 0.00003
NM_000368.5(TSC1):c.3249T>C (p.Ser1083=) rs761673589 0.00003
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031 0.00003
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr) rs1007335343 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000368.5(TSC1):c.663+35T>C rs556038860 0.00003
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln) rs755859330 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.941C>T (p.Thr314Met) rs373454700 0.00003
NM_000368.5(TSC1):c.942G>A (p.Thr314=) rs144208203 0.00003
NM_000368.5(TSC1):c.-80-5C>T rs1057523300 0.00002
NM_000368.5(TSC1):c.1020A>G (p.Glu340=) rs760233114 0.00002
NM_000368.5(TSC1):c.1030-14T>A rs180810228 0.00002
NM_000368.5(TSC1):c.111T>C (p.Arg37=) rs966292723 0.00002
NM_000368.5(TSC1):c.1251A>G (p.Thr417=) rs147127442 0.00002
NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg) rs878853959 0.00002
NM_000368.5(TSC1):c.126A>C (p.Val42=) rs118203335 0.00002
NM_000368.5(TSC1):c.1273A>G (p.Met425Val) rs753199284 0.00002
NM_000368.5(TSC1):c.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.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.2323C>T (p.Leu775Phe) rs868755168 0.00002
NM_000368.5(TSC1):c.2424G>A (p.Ala808=) rs200651872 0.00002
NM_000368.5(TSC1):c.2503-20T>G rs539758749 0.00002
NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter) rs747602915 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.3253A>G (p.Lys1085Glu) rs1442514678 0.00002
NM_000368.5(TSC1):c.3397C>T (p.Leu1133=) rs1244090738 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.542A>T (p.His181Leu) rs397515294 0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=) rs202242304 0.00002
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg) rs796053452 0.00002
NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr) rs752290177 0.00002
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00002
NM_000368.5(TSC1):c.-156G>A rs1219710576 0.00001
NM_000368.5(TSC1):c.1002G>A (p.Ser334=) rs200820603 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.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.109C>T (p.Arg37Cys) rs1309560054 0.00001
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512 0.00001
NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys) rs143502728 0.00001
NM_000368.5(TSC1):c.1219G>A (p.Val407Met) rs769331772 0.00001
NM_000368.5(TSC1):c.1257C>G (p.Pro419=) rs369642207 0.00001
NM_000368.5(TSC1):c.1277_1279del (p.Asp426_Ser427delinsAla) rs1203057835 0.00001
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val) rs199800297 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.1429_1431del (p.Lys477del) rs796053469 0.00001
NM_000368.5(TSC1):c.1550G>A (p.Arg517Gln) rs371908551 0.00001
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr) rs368481360 0.00001
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr) rs765149885 0.00001
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu) rs770570830 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.1775C>T (p.Thr592Met) rs775869914 0.00001
NM_000368.5(TSC1):c.1776G>A (p.Thr592=) rs118203580 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.1811A>G (p.Tyr604Cys) rs1057522817 0.00001
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile) rs754401816 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.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.211-11T>C rs1258774658 0.00001
NM_000368.5(TSC1):c.2268A>G (p.Lys756=) rs760004541 0.00001
NM_000368.5(TSC1):c.2392-16A>G rs758374143 0.00001
NM_000368.5(TSC1):c.23G>C (p.Gly8Ala) rs1269896419 0.00001
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val) rs751128287 0.00001
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg) rs118203699 0.00001
NM_000368.5(TSC1):c.2503-21T>C rs118203703 0.00001
NM_000368.5(TSC1):c.2520G>A (p.Ser840=) rs547498792 0.00001
NM_000368.5(TSC1):c.2556G>C (p.Leu852=) rs770381040 0.00001
NM_000368.5(TSC1):c.2658A>G (p.Lys886=) rs368212910 0.00001
NM_000368.5(TSC1):c.2867A>G (p.Gln956Arg) rs1212768461 0.00001
NM_000368.5(TSC1):c.2893T>A (p.Leu965Ile) rs1060503217 0.00001
NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys) rs762213436 0.00001
NM_000368.5(TSC1):c.28C>T (p.Leu10Phe) rs1399717425 0.00001
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val) rs397514859 0.00001
NM_000368.5(TSC1):c.2964A>G (p.Ala988=) rs1057520482 0.00001
NM_000368.5(TSC1):c.2976-2A>G rs1588288463 0.00001
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg) rs780224196 0.00001
NM_000368.5(TSC1):c.3010A>G (p.Met1004Val) rs371879917 0.00001
NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg) rs1242948205 0.00001
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr) rs764738792 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.3194C>T (p.Thr1065Met) rs753388676 0.00001
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=) rs878853966 0.00001
NM_000368.5(TSC1):c.3268A>G (p.Met1090Val) rs776694051 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.331C>T (p.Pro111Ser) rs748669519 0.00001
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=) rs118203752 0.00001
NM_000368.5(TSC1):c.3347G>A (p.Ser1116Asn) rs764140399 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.3420G>A (p.Pro1140=) rs763931959 0.00001
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806 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.397G>A (p.Val133Ile) rs118203381 0.00001
NM_000368.5(TSC1):c.418C>G (p.Leu140Val) rs1554819915 0.00001
NM_000368.5(TSC1):c.458A>G (p.Asp153Gly) rs1846674570 0.00001
NM_000368.5(TSC1):c.45C>T (p.Asp15=) rs1457262106 0.00001
NM_000368.5(TSC1):c.514G>A (p.Val172Met) rs952813051 0.00001
NM_000368.5(TSC1):c.518C>T (p.Ala173Val) rs777484049 0.00001
NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys) rs1060503209 0.00001
NM_000368.5(TSC1):c.555C>T (p.Tyr185=) rs118203398 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.738-10C>A rs768158324 0.00001
NM_000368.5(TSC1):c.772G>A (p.Glu258Lys) rs118203450 0.00001
NM_000368.5(TSC1):c.782A>G (p.Lys261Arg) rs371225009 0.00001
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu) rs878853968 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.884G>C (p.Ser295Thr) rs1415705359 0.00001
GRCh37/hg19 9q34.13(chr9:135800974-135801126)x1
NM_000368.4(TSC1):c.914-88_914-58T(27_30) rs11364856
NM_000368.5(TSC1):c.*1355C>A rs749683153
NM_000368.5(TSC1):c.*2437G>A
NM_000368.5(TSC1):c.*280T>C rs2131582192
NM_000368.5(TSC1):c.*289del rs11323835
NM_000368.5(TSC1):c.*295C>A rs113549339
NM_000368.5(TSC1):c.*295C>G rs113549339
NM_000368.5(TSC1):c.*3833C>A
NM_000368.5(TSC1):c.-144+134G>T rs375418118
NM_000368.5(TSC1):c.-144+9dup rs896447282
NM_000368.5(TSC1):c.-5A>G rs1323766758
NM_000368.5(TSC1):c.1029+2T>C rs1554817336
NM_000368.5(TSC1):c.1029+3A>G rs1554817334
NM_000368.5(TSC1):c.1036C>T (p.Leu346Phe) rs2131964723
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter) rs118203491
NM_000368.5(TSC1):c.1059_1060insTAC (p.Cys353_Gly354insTyr) rs2131962787
NM_000368.5(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.5(TSC1):c.107-1G>A rs1064793494
NM_000368.5(TSC1):c.107-7G>A rs775150962
NM_000368.5(TSC1):c.1096_1109del (p.Pro366fs) rs118203494
NM_000368.5(TSC1):c.109C>A (p.Arg37Ser) rs1309560054
NM_000368.5(TSC1):c.10C>T (p.Gln4Ter) rs753838459
NM_000368.5(TSC1):c.1109C>G (p.Ser370Ter)
NM_000368.5(TSC1):c.1109C>T (p.Ser370Leu) rs796053457
NM_000368.5(TSC1):c.111del (p.Gly38fs) rs1846929742
NM_000368.5(TSC1):c.1125dup (p.Val376fs) rs1554817227
NM_000368.5(TSC1):c.1129T>C (p.Phe377Leu) rs1845926660
NM_000368.5(TSC1):c.1141+1G>T rs397514819
NM_000368.5(TSC1):c.1152del (p.Gly385fs) rs118203501
NM_000368.5(TSC1):c.1157del (p.Thr386fs) rs1554817164
NM_000368.5(TSC1):c.1162_1163del (p.Leu388fs) rs1064793844
NM_000368.5(TSC1):c.1165G>T (p.Gly389Ter) rs886041524
NM_000368.5(TSC1):c.116_119dup (p.Met40fs) rs1588359822
NM_000368.5(TSC1):c.1192del (p.Ala398fs) rs2131943928
NM_000368.5(TSC1):c.1194C>G (p.Ala398=) rs1060504861
NM_000368.5(TSC1):c.1200_1201del (p.Cys401fs) rs1554817140
NM_000368.5(TSC1):c.1209G>T (p.Ser403=) rs141184479
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.1234C>A (p.Pro412Thr) rs2131939930
NM_000368.5(TSC1):c.1235C>T (p.Pro412Leu) rs1845897946
NM_000368.5(TSC1):c.1237del (p.Gln413fs) rs1588321344
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys) rs77464996
NM_000368.5(TSC1):c.1253C>T (p.Pro418Leu)
NM_000368.5(TSC1):c.1256C>A (p.Pro419His) rs878853959
NM_000368.5(TSC1):c.1263+106G>A rs113308027
NM_000368.5(TSC1):c.1263+248_1263+251dup rs10712193
NM_000368.5(TSC1):c.1263+248dup rs10712193
NM_000368.5(TSC1):c.1263+269del rs10712193
NM_000368.5(TSC1):c.1263+4C>T rs1554817077
NM_000368.5(TSC1):c.1264-1G>A rs1554816432
NM_000368.5(TSC1):c.1298A>G (p.His433Arg) rs1554816403
NM_000368.5(TSC1):c.1326_1327del (p.Gly443fs) rs1064795285
NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg) rs760470520
NM_000368.5(TSC1):c.1332A>C (p.Ser444=) rs773003016
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala) rs1588313030
NM_000368.5(TSC1):c.134T>A (p.Leu45Ter) rs1554820662
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000368.5(TSC1):c.1350C>T (p.Ser450=) rs773780814
NM_000368.5(TSC1):c.1358C>T (p.Ser453Phe) rs1271797824
NM_000368.5(TSC1):c.1367dup (p.Ser457fs) rs1554816245
NM_000368.5(TSC1):c.1388del (p.Phe462_Leu463insTer) rs1064796237
NM_000368.5(TSC1):c.1403C>G (p.Ser468Cys) rs1845695519
NM_000368.5(TSC1):c.1410A>G (p.Glu470=) rs2131863384
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) rs118203527
NM_000368.5(TSC1):c.1438+164_1438+167dup rs11349075
NM_000368.5(TSC1):c.1438+164dup rs11349075
NM_000368.5(TSC1):c.1438+182del rs11349075
NM_000368.5(TSC1):c.1438+270T>C rs143422206
NM_000368.5(TSC1):c.1439-1G>A rs397514804
NM_000368.5(TSC1):c.1439-209G>C rs17149968
NM_000368.5(TSC1):c.1441del (p.Ala481fs) rs796053466
NM_000368.5(TSC1):c.1443_1445delinsC (p.Ile482_Ser483insTer) rs1064793693
NM_000368.5(TSC1):c.1451G>C (p.Arg484Thr) rs2131850238
NM_000368.5(TSC1):c.1454A>T (p.Glu485Val) rs2131850010
NM_000368.5(TSC1):c.1456C>G (p.Leu486Val) rs2131849950
NM_000368.5(TSC1):c.1462G>C (p.Glu488Gln) rs118203533
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.5(TSC1):c.1509dup (p.Asp504Ter) rs796053470
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1533dup (p.Leu512fs) rs1554816029
NM_000368.5(TSC1):c.1541_1544del (p.Gly514fs) rs2131843217
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp) rs1243886871
NM_000368.5(TSC1):c.1551G>T (p.Arg517=) rs2131842617
NM_000368.5(TSC1):c.1563G>A (p.Ser521=) rs1554816005
NM_000368.5(TSC1):c.1569_1570delinsGTGAA (p.Ser524Ter) rs2131841336
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.1600G>A (p.Glu534Lys) rs796053458
NM_000368.5(TSC1):c.1610A>G (p.His537Arg) rs1845643427
NM_000368.5(TSC1):c.1632G>T (p.Gly544=) rs1588310249
NM_000368.5(TSC1):c.1670T>C (p.Leu557Pro) rs1064796040
NM_000368.5(TSC1):c.1675del (p.Cys559fs)
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs) rs118203557
NM_000368.5(TSC1):c.1696_1697insTC (p.Pro566fs) rs1064794760
NM_000368.5(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.5(TSC1):c.1702_1703del (p.Gly568fs) rs397514777
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs) rs118203564
NM_000368.5(TSC1):c.1713del (p.Glu571fs) rs796053471
NM_000368.5(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.5(TSC1):c.1727del (p.Leu576fs) rs886041684
NM_000368.5(TSC1):c.1732A>G (p.Thr578Ala)
NM_000368.5(TSC1):c.1753C>T (p.Pro585Ser) rs766367103
NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser) rs1429666367
NM_000368.5(TSC1):c.1777A>G (p.Arg593Gly) rs118203581
NM_000368.5(TSC1):c.1788del (p.Phe596fs) rs118203582
NM_000368.5(TSC1):c.1808_1811dup (p.Asp605fs) rs2131821838
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn) rs1588309025
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe) rs1554815795
NM_000368.5(TSC1):c.182T>C (p.Leu61Pro) rs118203345
NM_000368.5(TSC1):c.1833A>G (p.Ala611=) rs1240702401
NM_000368.5(TSC1):c.1866G>T (p.Arg622Ser)
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala) rs886038287
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
NM_000368.5(TSC1):c.1897G>A (p.Gly633Arg) rs1471587230
NM_000368.5(TSC1):c.1898G>A (p.Gly633Glu) rs1554815746
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.192G>T (p.Leu64Phe) rs1554820635
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.1965_1984dup (p.Lys662fs) rs2131807821
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu) rs118203608
NM_000368.5(TSC1):c.1986G>T (p.Lys662Asn)
NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter) rs886041538
NM_000368.5(TSC1):c.1988A>T (p.Glu663Val) rs1845605103
NM_000368.5(TSC1):c.1997+1G>A rs118203610
NM_000368.5(TSC1):c.1997+5G>C rs1554815679
NM_000368.5(TSC1):c.1998-172_1998-166del rs3216877
NM_000368.5(TSC1):c.1998-2A>C rs1057518217
NM_000368.5(TSC1):c.1998-2A>G rs1057518217
NM_000368.5(TSC1):c.2001_2004del (p.Leu667fs) rs1554815476
NM_000368.5(TSC1):c.2023del (p.Asp675fs) rs118203620
NM_000368.5(TSC1):c.2033A>G (p.His678Arg) rs745413532
NM_000368.5(TSC1):c.2041+5del rs1564479424
NM_000368.5(TSC1):c.2042-2A>G rs118203628
NM_000368.5(TSC1):c.2071C>T (p.Leu691Phe) rs1554815343
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2074del (p.Arg692fs)
NM_000368.5(TSC1):c.2075_2120dup (p.Phe707delinsLeuArgProValAlaPheThrAlaGlnProValThrLeuTer) rs886042012
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter) rs397514789
NM_000368.5(TSC1):c.2082del (p.Gln694fs) rs118203632
NM_000368.5(TSC1):c.2086C>A (p.Leu696Ile) rs1845506304
NM_000368.5(TSC1):c.2101C>T (p.Gln701Ter) rs1845504382
NM_000368.5(TSC1):c.2103G>A (p.Gln701=) rs118203639
NM_000368.5(TSC1):c.2103_2106dup (p.Leu703fs) rs118203638
NM_000368.5(TSC1):c.2106_2109delinsTTGTTTTAAGAGCGTTT (p.Leu702fs) rs1057517842
NM_000368.5(TSC1):c.211-11dup rs397514775
NM_000368.5(TSC1):c.211-7T>G rs1554820321
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.2128C>T (p.Gln710Ter) rs397514874
NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp) rs1564478519
NM_000368.5(TSC1):c.2145del (p.Asn716fs) rs118203650
NM_000368.5(TSC1):c.2152_2153insAGCC (p.Arg718fs) rs1588303969
NM_000368.5(TSC1):c.2156del (p.Leu719fs) rs886041456
NM_000368.5(TSC1):c.2161del (p.Arg721fs) rs1588303890
NM_000368.5(TSC1):c.2162G>A (p.Arg721His) rs769566267
NM_000368.5(TSC1):c.2171T>C (p.Ile724Thr) rs796053459
NM_000368.5(TSC1):c.2198A>G (p.Asn733Ser) rs1564478277
NM_000368.5(TSC1):c.21C>T (p.Val7=) rs145987906
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.2213A>T (p.Asp738Val) rs1350928783
NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter) rs1554815054
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter) rs118203661
NM_000368.5(TSC1):c.2235G>A (p.Lys745=) rs753265422
NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter) rs118203662
NM_000368.5(TSC1):c.2268dup (p.Glu757fs)
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.5(TSC1):c.2278_2291del (p.Arg760fs)
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter) rs118203668
NM_000368.5(TSC1):c.2292_2293insT (p.Gln765fs) rs1064794504
NM_000368.5(TSC1):c.2293C>G (p.Gln765Glu) rs118203673
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter) rs118203673
NM_000368.5(TSC1):c.2302C>T (p.Arg768Cys) rs1588301564
NM_000368.5(TSC1):c.2338A>T (p.Arg780Ter) rs1564477162
NM_000368.5(TSC1):c.2339G>A (p.Arg780Lys) rs1845445479
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg) rs796053460
NM_000368.5(TSC1):c.2380C>T (p.Gln794Ter) rs781371665
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.5(TSC1):c.2391+12A>G rs2131727338
NM_000368.5(TSC1):c.2392-74_2392-1del
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met) rs1331635112
NM_000368.5(TSC1):c.239_240del (p.Val80fs) rs2132237554
NM_000368.5(TSC1):c.2401G>T (p.Glu801Ter) rs118203687
NM_000368.5(TSC1):c.2413A>G (p.Asn805Asp) rs1845380748
NM_000368.5(TSC1):c.2421T>A (p.Ile807=) rs754248661
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln) rs761281095
NM_000368.5(TSC1):c.2448G>A (p.Lys816=) rs1588299142
NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser) rs1554814652
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala) rs1554814639
NM_000368.5(TSC1):c.2477_2480dup (p.Leu828fs) rs2131704033
NM_000368.5(TSC1):c.2487_2490del (p.Ser829fs) rs886039735
NM_000368.5(TSC1):c.2497dup (p.Gln833fs) rs2131702709
NM_000368.5(TSC1):c.2502+2T>A
NM_000368.5(TSC1):c.2503-11T>A rs201568350
NM_000368.5(TSC1):c.2503-11T>G rs201568350
NM_000368.5(TSC1):c.2503-139dup rs201114032
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.5(TSC1):c.2514T>G (p.Ser838Arg) rs786203259
NM_000368.5(TSC1):c.2515_2518del (p.Glu839fs) rs794727320
NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter) rs1447417010
NM_000368.5(TSC1):c.2569del (p.Glu857fs) rs118203712
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys) rs1463772907
NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter) rs886039662
NM_000368.5(TSC1):c.2607G>C (p.Lys869Asn) rs1845327520
NM_000368.5(TSC1):c.260T>G (p.Leu87Ter) rs397514776
NM_000368.5(TSC1):c.261dup (p.Ser88fs) rs1588355628
NM_000368.5(TSC1):c.2625+367A>G rs1564474542
NM_000368.5(TSC1):c.2625+373dup rs36000704
NM_000368.5(TSC1):c.2625G>C (p.Lys875Asn) rs777437357
NM_000368.5(TSC1):c.2626-167G>A rs12350315
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-4del rs5901000
NM_000368.5(TSC1):c.2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-6_2626-4del rs5901000
NM_000368.5(TSC1):c.2632G>T (p.Glu878Ter) rs1290215290
NM_000368.5(TSC1):c.2635A>C (p.Met879Leu) rs778416424
NM_000368.5(TSC1):c.2635A>G (p.Met879Val) rs778416424
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile) rs1554813610
NM_000368.5(TSC1):c.2640G>A (p.Met880Ile) rs1218889799
NM_000368.5(TSC1):c.2640del (p.Met880fs) rs1588291118
NM_000368.5(TSC1):c.2641A>T (p.Lys881Ter) rs1057520444
NM_000368.5(TSC1):c.2656A>T (p.Lys886Ter) rs1554813568
NM_000368.5(TSC1):c.2672A>G (p.Asn891Ser) rs1060503203
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.5(TSC1):c.2692C>A (p.Gln898Lys) rs118203728
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter) rs397514871
NM_000368.5(TSC1):c.2699_2700insAA (p.Leu902fs) rs2131635932
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.2748G>C (p.Leu916=) rs1588290553
NM_000368.5(TSC1):c.2771del (p.Leu924fs) rs1845139251
NM_000368.5(TSC1):c.2785T>C (p.Tyr929His) rs1845137965
NM_000368.5(TSC1):c.2787T>C (p.Tyr929=) rs753980869
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter) rs118203735
NM_000368.5(TSC1):c.2807A>G (p.Gln936Arg) rs2131630505
NM_000368.5(TSC1):c.2843A>G (p.Tyr948Cys) rs989183765
NM_000368.5(TSC1):c.2866C>T (p.Gln956Ter) rs1554813331
NM_000368.5(TSC1):c.2873T>G (p.Phe958Cys) rs2131626774
NM_000368.5(TSC1):c.2891A>T (p.Asp964Val) rs1554813302
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu) rs796053448
NM_000368.5(TSC1):c.2948C>G (p.Ala983Gly) rs2131623702
NM_000368.5(TSC1):c.2949_2957del (p.985AAE[1]) rs767902029
NM_000368.5(TSC1):c.2966C>T (p.Ala989Val) rs1554813219
NM_000368.5(TSC1):c.2972_2975del (p.Glu991fs)
NM_000368.5(TSC1):c.2975+1G>A
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr) rs144314195
NM_000368.5(TSC1):c.2996G>T (p.Gly999Val) rs1845089126
NM_000368.5(TSC1):c.3035C>G (p.Ser1012Cys)
NM_000368.5(TSC1):c.3045C>A (p.Asn1015Lys) rs759047948
NM_000368.5(TSC1):c.304T>C (p.Ser102Pro) rs796053453
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.3063del (p.Arg1022fs) rs2131612319
NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile) rs796053450
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu) rs774196458
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.3125G>A (p.Ser1042Asn) rs148931779
NM_000368.5(TSC1):c.3129_3130dup (p.Glu1044fs) rs1588287451
NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer) rs1588287475
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val) rs747162992
NM_000368.5(TSC1):c.3170G>T (p.Gly1057Val) rs1588287204
NM_000368.5(TSC1):c.3199_3211delinsGCCAGCATCCCCACCACTGTGGG (p.Met1067fs)
NM_000368.5(TSC1):c.3200T>C (p.Met1067Thr) rs1167362899
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val) rs1060503200
NM_000368.5(TSC1):c.3250T>C (p.Ser1084Pro) rs796053463
NM_000368.5(TSC1):c.325C>T (p.Gln109Ter) rs397514774
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser) rs1554812687
NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg) rs876660132
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn) rs1263464680
NM_000368.5(TSC1):c.3311G>T (p.Cys1104Phe) rs796053467
NM_000368.5(TSC1):c.3375G>C (p.Leu1125Phe)
NM_000368.5(TSC1):c.3389A>G (p.Lys1130Arg) rs1588286359
NM_000368.5(TSC1):c.3394C>A (p.Pro1132Thr)
NM_000368.5(TSC1):c.3403C>G (p.Leu1135Val) rs749612772
NM_000368.5(TSC1):c.3412C>T (p.Pro1138Ser) rs2131589157
NM_000368.5(TSC1):c.3413C>A (p.Pro1138His) rs756449737
NM_000368.5(TSC1):c.3417C>A (p.His1139Gln) rs756737864
NM_000368.5(TSC1):c.341CTT[1] (p.Ser115del) rs1846809072
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=) rs759431801
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg) rs1554812543
NM_000368.5(TSC1):c.3487C>T (p.His1163Tyr) rs2131585152
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe) rs755799702
NM_000368.5(TSC1):c.363+3_363+18del rs1554820251
NM_000368.5(TSC1):c.363+667A>T rs1846769659
NM_000368.5(TSC1):c.365T>C (p.Met122Thr) rs796053454
NM_000368.5(TSC1):c.368A>G (p.Asp123Gly)
NM_000368.5(TSC1):c.425T>C (p.Met142Thr) rs886042190
NM_000368.5(TSC1):c.451_455delinsTTTC (p.Leu151fs) rs1554819900
NM_000368.5(TSC1):c.456del (p.Asp153fs) rs1554819896
NM_000368.5(TSC1):c.469A>G (p.Ile157Val) rs1846673273
NM_000368.5(TSC1):c.470T>G (p.Ile157Ser)
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser) rs118203385
NM_000368.5(TSC1):c.485C>A (p.Ser162Ter) rs1846671628
NM_000368.5(TSC1):c.491G>A (p.Trp164Ter) rs118203387
NM_000368.5(TSC1):c.492G>A (p.Trp164Ter) rs1554819870
NM_000368.5(TSC1):c.508+1G>T rs118203390
NM_000368.5(TSC1):c.508+3A>G rs1554819862
NM_000368.5(TSC1):c.514G>C (p.Val172Leu) rs952813051
NM_000368.5(TSC1):c.517G>A (p.Ala173Thr)
NM_000368.5(TSC1):c.541C>T (p.His181Tyr) rs1057524690
NM_000368.5(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.5(TSC1):c.555C>A (p.Tyr185Ter) rs118203398
NM_000368.5(TSC1):c.569G>C (p.Arg190Pro) rs118203402
NM_000368.5(TSC1):c.572T>C (p.Leu191Pro) rs118203403
NM_000368.5(TSC1):c.587del (p.Pro196fs) rs796053464
NM_000368.5(TSC1):c.590_594del (p.Cys197fs) rs1064796162
NM_000368.5(TSC1):c.59G>A (p.Gly20Asp) rs2132295150
NM_000368.5(TSC1):c.59G>C (p.Gly20Ala)
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer) rs118203417
NM_000368.5(TSC1):c.651_663dup (p.Pro222fs) rs1554819509
NM_000368.5(TSC1):c.656T>G (p.Val219Gly)
NM_000368.5(TSC1):c.661A>T (p.Lys221Ter) rs1564497826
NM_000368.5(TSC1):c.663+1G>A rs118203419
NM_000368.5(TSC1):c.663G>A (p.Lys221=) rs868715706
NM_000368.5(TSC1):c.664-10A>C rs1588345946
NM_000368.5(TSC1):c.664-15A>G rs118203422
NM_000368.5(TSC1):c.664-1G>A rs118203423
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu) rs1322586198
NM_000368.5(TSC1):c.708A>G (p.Gly236=) rs2132135313
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+3A>G rs118203439
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.5(TSC1):c.737_737+1dup rs118203435
NM_000368.5(TSC1):c.738-1252G>A
NM_000368.5(TSC1):c.738-2A>T rs118203440
NM_000368.5(TSC1):c.738G>A (p.Arg246=) rs118203441
NM_000368.5(TSC1):c.73_85dup (p.Phe29fs)
NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer) rs118203445
NM_000368.5(TSC1):c.74dup (p.Thr26fs) rs886041959
NM_000368.5(TSC1):c.751G>T (p.Glu251Ter) rs1554817691
NM_000368.5(TSC1):c.770T>C (p.Ile257Thr) rs745640752
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter) rs118203450
NM_000368.5(TSC1):c.785T>C (p.Ile262Thr) rs2132003570
NM_000368.5(TSC1):c.797C>T (p.Pro266Leu) rs1554817662
NM_000368.5(TSC1):c.801A>G (p.Thr267=) rs2132002475
NM_000368.5(TSC1):c.809C>A (p.Ser270Ter) rs878853968
NM_000368.5(TSC1):c.813T>G (p.Tyr271Ter) rs118203452
NM_000368.5(TSC1):c.835C>T (p.His279Tyr) rs1467020958
NM_000368.5(TSC1):c.850_881delinsGCTTTCCTCATCGTT (p.Arg284fs) rs886041977
NM_000368.5(TSC1):c.886C>T (p.Pro296Ser) rs750890263
NM_000368.5(TSC1):c.889T>C (p.Tyr297His)
NM_000368.5(TSC1):c.892G>A (p.Ala298Thr) rs1846004547
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala) rs796053456
NM_000368.5(TSC1):c.901_902del (p.Gln301fs) rs118203464
NM_000368.5(TSC1):c.903dup (p.Asn302fs) rs1846003590
NM_000368.5(TSC1):c.913+1G>A rs118203470
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg) rs118203468
NM_000368.5(TSC1):c.914-2A>G rs886041638
NM_000368.5(TSC1):c.914-58del
NM_000368.5(TSC1):c.914-59_914-58del
NM_000368.5(TSC1):c.914-62_914-58del rs11364856
NM_000368.5(TSC1):c.914-63_914-58del rs11364856
NM_000368.5(TSC1):c.915G>A (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.931C>G (p.Pro311Ala) rs1332186256
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe) rs766317920
NM_000368.5(TSC1):c.939C>T (p.Ser313=) rs1588324777
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter) rs118203474
NM_000368.5(TSC1):c.989_990insTT (p.Leu330_Ser331insTer) rs118203478
NM_000368.5(TSC1):c.989dup (p.Ser331fs) rs118203478
Single allele
TSC1:c.1142-22_1142-21del rs118203500

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