ClinVar Miner

List of variants in gene TSC1 reported by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 585
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15655
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08157
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00731
NM_000368.5(TSC1):c.210+33G>A rs118203350 0.00695
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00346
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00272
NM_000368.5(TSC1):c.106+15A>G rs80258442 0.00266
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00147
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00103
NM_000368.5(TSC1):c.876C>T (p.Val292=) rs116756594 0.00096
NM_000368.5(TSC1):c.552G>C (p.Val184=) rs118203397 0.00079
NM_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln) rs118203543 0.00064
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00042
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro) rs377598226 0.00041
NM_000368.5(TSC1):c.1773G>A (p.Pro591=) rs146578402 0.00040
NM_000368.5(TSC1):c.2505C>T (p.Leu835=) rs112384441 0.00039
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000368.5(TSC1):c.2625+19G>A rs200135828 0.00034
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=) rs200200869 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.810A>G (p.Ser270=) rs142336706 0.00024
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00023
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp) rs118203723 0.00023
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.1333+14G>A rs371733518 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.3184C>T (p.Arg1062Trp) rs118203745 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000368.5(TSC1):c.2209-3T>C rs368309229 0.00013
NM_000368.5(TSC1):c.249C>T (p.Ala83=) rs145783693 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.1700C>T (p.Ala567Val) rs397514880 0.00012
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 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.618T>C (p.His206=) rs118203415 0.00012
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln) rs118203692 0.00011
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.2423C>T (p.Ala808Val) rs756514375 0.00009
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557 0.00008
NM_000368.5(TSC1):c.1567G>C (p.Ala523Pro) rs118203548 0.00008
NM_000368.5(TSC1):c.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.1218C>T (p.Tyr406=) rs373465241 0.00007
NM_000368.5(TSC1):c.2209-9C>G rs118203660 0.00007
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.513C>T (p.His171=) rs377196837 0.00006
NM_000368.5(TSC1):c.625A>G (p.Met209Val) rs754980229 0.00006
NM_000368.5(TSC1):c.1047A>G (p.Pro349=) rs118203492 0.00005
NM_000368.5(TSC1):c.1110A>T (p.Ser370=) rs371648887 0.00005
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val) rs372583166 0.00005
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000368.5(TSC1):c.231C>T (p.Asn77=) rs397514809 0.00005
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln) rs200514807 0.00005
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=) rs759047948 0.00005
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839 0.00005
NM_000368.5(TSC1):c.3210G>A (p.Ala1070=) rs201165286 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.853T>G (p.Phe285Val) rs377076733 0.00005
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg) rs375144225 0.00005
NM_000368.5(TSC1):c.110G>A (p.Arg37His) rs750441497 0.00004
NM_000368.5(TSC1):c.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.1976C>T (p.Ala659Val) rs118203609 0.00004
NM_000368.5(TSC1):c.2115G>A (p.Glu705=) rs142662480 0.00004
NM_000368.5(TSC1):c.2922C>T (p.Leu974=) rs769389702 0.00004
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln) rs397514808 0.00003
NM_000368.5(TSC1):c.1113C>T (p.His371=) rs771217333 0.00003
NM_000368.5(TSC1):c.114C>G (p.Gly38=) rs776158461 0.00003
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) rs397514840 0.00003
NM_000368.5(TSC1):c.1317G>C (p.Leu439=) rs770692313 0.00003
NM_000368.5(TSC1):c.1344T>G (p.Pro448=) rs530908428 0.00003
NM_000368.5(TSC1):c.1439-4T>C rs762473323 0.00003
NM_000368.5(TSC1):c.1506C>T (p.Gly502=) rs772337076 0.00003
NM_000368.5(TSC1):c.1584C>T (p.Gly528=) rs149439187 0.00003
NM_000368.5(TSC1):c.1585G>A (p.Ala529Thr) rs751125011 0.00003
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly) rs377185303 0.00003
NM_000368.5(TSC1):c.1721C>G (p.Thr574Ser) rs548002938 0.00003
NM_000368.5(TSC1):c.1878G>A (p.Glu626=) rs753424167 0.00003
NM_000368.5(TSC1):c.1888A>C (p.Lys630Gln) rs1158059433 0.00003
NM_000368.5(TSC1):c.1922C>A (p.Pro641His) rs397514863 0.00003
NM_000368.5(TSC1):c.1974C>T (p.Asp658=) rs118203608 0.00003
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys) rs202241429 0.00003
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln) rs1336228562 0.00003
NM_000368.5(TSC1):c.2478G>C (p.Leu826=) rs149719514 0.00003
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser) rs76801599 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.3005A>T (p.Asp1002Val) rs202121327 0.00003
NM_000368.5(TSC1):c.3129C>T (p.Ser1043=) rs201192125 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.379G>A (p.Val127Ile) rs372215435 0.00003
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr) rs1007335343 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln) rs755859330 0.00003
NM_000368.5(TSC1):c.798C>T (p.Pro266=) rs770704462 0.00003
NM_000368.5(TSC1):c.840A>G (p.Gln280=) rs1171852730 0.00003
NM_000368.5(TSC1):c.850C>T (p.Arg284Cys) rs140544652 0.00003
NM_000368.5(TSC1):c.87T>C (p.Phe29=) rs745384145 0.00003
NM_000368.5(TSC1):c.913+8G>C rs763784439 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.1020A>G (p.Glu340=) rs760233114 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.1631G>A (p.Gly544Glu) rs770570830 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.1809G>T (p.Pro603=) rs112434645 0.00002
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu) rs1269162063 0.00002
NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile) rs779584449 0.00002
NM_000368.5(TSC1):c.2034C>T (p.His678=) rs201392975 0.00002
NM_000368.5(TSC1):c.2077G>C (p.Asp693His) rs397514800 0.00002
NM_000368.5(TSC1):c.2303G>A (p.Arg768His) rs1033725987 0.00002
NM_000368.5(TSC1):c.2322G>A (p.Lys774=) rs772038670 0.00002
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe) rs868755168 0.00002
NM_000368.5(TSC1):c.2424G>A (p.Ala808=) rs200651872 0.00002
NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter) rs747602915 0.00002
NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly) rs760762170 0.00002
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln) rs549467159 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.3112A>G (p.Ser1038Gly) rs768443391 0.00002
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr) rs112066743 0.00002
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=) rs118203746 0.00002
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=) rs749995749 0.00002
NM_000368.5(TSC1):c.3249T>C (p.Ser1083=) rs761673589 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.370A>G (p.Thr124Ala) rs745871522 0.00002
NM_000368.5(TSC1):c.531C>T (p.Leu177=) rs752615412 0.00002
NM_000368.5(TSC1):c.593A>G (p.Asn198Ser) rs577983115 0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=) rs202242304 0.00002
NM_000368.5(TSC1):c.696A>G (p.Glu232=) rs1588345709 0.00002
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu) rs148756522 0.00002
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg) rs796053452 0.00002
NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr) rs752290177 0.00002
NM_000368.5(TSC1):c.930C>T (p.Thr310=) rs759004332 0.00002
NM_000368.5(TSC1):c.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.1054G>A (p.Val352Ile) rs796053447 0.00001
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr) rs876660024 0.00001
NM_000368.5(TSC1):c.1078A>C (p.Thr360Pro) rs201738258 0.00001
NM_000368.5(TSC1):c.1078A>G (p.Thr360Ala) rs201738258 0.00001
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser) rs397514864 0.00001
NM_000368.5(TSC1):c.1091A>T (p.Asn364Ile) rs876658981 0.00001
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu) rs763915012 0.00001
NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala) rs1412914051 0.00001
NM_000368.5(TSC1):c.109C>T (p.Arg37Cys) rs1309560054 0.00001
NM_000368.5(TSC1):c.1116T>C (p.Pro372=) rs1311647964 0.00001
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512 0.00001
NM_000368.5(TSC1):c.1141+10T>C rs367601694 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.1219G>A (p.Val407Met) rs769331772 0.00001
NM_000368.5(TSC1):c.121C>T (p.Leu41Phe) rs118203334 0.00001
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg) rs1060503218 0.00001
NM_000368.5(TSC1):c.1248C>T (p.Val416=) rs777823426 0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000368.5(TSC1):c.1257C>G (p.Pro419=) rs369642207 0.00001
NM_000368.5(TSC1):c.1263+6_1263+8dup rs751182565 0.00001
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val) rs199800297 0.00001
NM_000368.5(TSC1):c.133T>C (p.Leu45=) rs755226092 0.00001
NM_000368.5(TSC1):c.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.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.1564G>C (p.Ala522Pro) rs1461138345 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.1589G>C (p.Ser530Thr) rs368481360 0.00001
NM_000368.5(TSC1):c.1591G>A (p.Val531Met) rs377279170 0.00001
NM_000368.5(TSC1):c.1596C>T (p.Asn532=) rs759461471 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.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.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.1802C>T (p.Pro601Leu) rs543077026 0.00001
NM_000368.5(TSC1):c.1809G>A (p.Pro603=) rs112434645 0.00001
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817 0.00001
NM_000368.5(TSC1):c.181C>T (p.Leu61=) rs752047592 0.00001
NM_000368.5(TSC1):c.1869G>A (p.Lys623=) rs778556382 0.00001
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile) rs754401816 0.00001
NM_000368.5(TSC1):c.1882T>C (p.Leu628=) rs375534013 0.00001
NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala) rs1485955306 0.00001
NM_000368.5(TSC1):c.1943T>C (p.Val648Ala) rs771341361 0.00001
NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr) rs914628341 0.00001
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg) rs1419720341 0.00001
NM_000368.5(TSC1):c.2018C>A (p.Ser673Tyr) rs774835995 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.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.213C>A (p.His71Gln) rs765578482 0.00001
NM_000368.5(TSC1):c.2152C>T (p.Arg718Trp) rs1445358121 0.00001
NM_000368.5(TSC1):c.2195A>G (p.His732Arg) rs878853964 0.00001
NM_000368.5(TSC1):c.2196T>C (p.His732=) rs776441369 0.00001
NM_000368.5(TSC1):c.2268A>G (p.Lys756=) rs760004541 0.00001
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His) rs776386313 0.00001
NM_000368.5(TSC1):c.2298G>C (p.Glu766Asp) rs1403227945 0.00001
NM_000368.5(TSC1):c.2307C>T (p.Asp769=) rs876658671 0.00001
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr) rs760208449 0.00001
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg) rs796053460 0.00001
NM_000368.5(TSC1):c.23G>C (p.Gly8Ala) rs1269896419 0.00001
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln) rs761281095 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.2503-4T>G rs772414581 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.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.2636T>C (p.Met879Thr) rs754457018 0.00001
NM_000368.5(TSC1):c.2658A>G (p.Lys886=) rs368212910 0.00001
NM_000368.5(TSC1):c.2722C>T (p.Arg908Trp) rs748845915 0.00001
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro) rs397514873 0.00001
NM_000368.5(TSC1):c.2766T>G (p.Leu922=) rs546119844 0.00001
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr) rs751362258 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.2898T>C (p.Tyr966=) rs1057522171 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.2926A>G (p.Lys976Glu) rs796053448 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.2982C>T (p.Asp994=) rs199919348 0.00001
NM_000368.5(TSC1):c.2994C>T (p.Asp998=) rs923543734 0.00001
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg) rs780224196 0.00001
NM_000368.5(TSC1):c.3010A>G (p.Met1004Val) rs371879917 0.00001
NM_000368.5(TSC1):c.3011T>C (p.Met1004Thr) rs757370776 0.00001
NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg) rs1242948205 0.00001
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr) rs764738792 0.00001
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser) rs1263094349 0.00001
NM_000368.5(TSC1):c.3032C>A (p.Ala1011Glu) rs796053449 0.00001
NM_000368.5(TSC1):c.3059C>T (p.Thr1020Ile) rs1060503214 0.00001
NM_000368.5(TSC1):c.305C>G (p.Ser102Cys) rs1307630727 0.00001
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295 0.00001
NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp) rs375394001 0.00001
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu) rs774196458 0.00001
NM_000368.5(TSC1):c.3115A>G (p.Ser1039Gly) rs1490199228 0.00001
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462 0.00001
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile) rs587778726 0.00001
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu) rs753263747 0.00001
NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln) rs755396992 0.00001
NM_000368.5(TSC1):c.3194C>T (p.Thr1065Met) rs753388676 0.00001
NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg) rs1167362899 0.00001
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=) rs878853966 0.00001
NM_000368.5(TSC1):c.3228C>T (p.Thr1076=) rs140622357 0.00001
NM_000368.5(TSC1):c.3268A>G (p.Met1090Val) rs776694051 0.00001
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986 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.3296A>G (p.Lys1099Arg) rs876660132 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.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.3350T>C (p.Leu1117Pro) rs762641110 0.00001
NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile) rs775420987 0.00001
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=) rs1157060310 0.00001
NM_000368.5(TSC1):c.3381G>A (p.Val1127=) rs773586317 0.00001
NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val) rs772233665 0.00001
NM_000368.5(TSC1):c.3405A>G (p.Leu1135=) rs568004490 0.00001
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082 0.00001
NM_000368.5(TSC1):c.3414T>C (p.Pro1138=) rs745475737 0.00001
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro) rs764018144 0.00001
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu) rs751126355 0.00001
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=) rs763931959 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>T (p.Asp1146Tyr) rs397514806 0.00001
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg) rs1554812543 0.00001
NM_000368.5(TSC1):c.375C>T (p.Asp125=) rs560863078 0.00001
NM_000368.5(TSC1):c.376G>A (p.Val126Ile) rs397514843 0.00001
NM_000368.5(TSC1):c.378C>T (p.Val126=) rs373173550 0.00001
NM_000368.5(TSC1):c.38T>C (p.Met13Thr) rs1041071543 0.00001
NM_000368.5(TSC1):c.391A>G (p.Thr131Ala) rs1564499857 0.00001
NM_000368.5(TSC1):c.395G>C (p.Gly132Ala) rs397514784 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.514G>A (p.Val172Met) rs952813051 0.00001
NM_000368.5(TSC1):c.518C>T (p.Ala173Val) rs777484049 0.00001
NM_000368.5(TSC1):c.519G>A (p.Ala173=) rs768999400 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.555C>T (p.Tyr185=) rs118203398 0.00001
NM_000368.5(TSC1):c.598G>A (p.Val200Ile) rs118203410 0.00001
NM_000368.5(TSC1):c.61G>T (p.Val21Leu) rs1392596033 0.00001
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) rs749030456 0.00001
NM_000368.5(TSC1):c.651A>G (p.Glu217=) rs766250769 0.00001
NM_000368.5(TSC1):c.670A>T (p.Met224Leu) rs535397245 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.898A>G (p.Thr300Ala) rs796053456 0.00001
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile) rs370916731 0.00001
NM_000368.5(TSC1):c.946C>T (p.Arg316Trp) rs535868591 0.00001
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00001
NM_000368.5(TSC1):c.997C>T (p.Pro333Ser) rs1057520994 0.00001
NM_000368.5(TSC1):c.1026A>G (p.Pro342=) rs1588324071
NM_000368.5(TSC1):c.1041G>C (p.Trp347Cys) rs118203491
NM_000368.5(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.5(TSC1):c.107-1G>A rs1064793494
NM_000368.5(TSC1):c.109C>A (p.Arg37Ser) rs1309560054
NM_000368.5(TSC1):c.1113C>A (p.His371Gln) rs771217333
NM_000368.5(TSC1):c.1167A>T (p.Gly389=) rs876660723
NM_000368.5(TSC1):c.1177A>T (p.Thr393Ser) rs1845904791
NM_000368.5(TSC1):c.1209G>T (p.Ser403=) rs141184479
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.5(TSC1):c.1237del (p.Gln413fs) rs1588321344
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys) rs77464996
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.1257del (p.Arg420fs) rs118203506
NM_000368.5(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.5(TSC1):c.12A>G (p.Gln4=) rs1588363707
NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg) rs760470520
NM_000368.5(TSC1):c.1332A>C (p.Ser444=) rs773003016
NM_000368.5(TSC1):c.1333+9T>A rs747629498
NM_000368.5(TSC1):c.1338G>A (p.Glu446=) rs1410493156
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000368.5(TSC1):c.1355G>A (p.Gly452Asp) rs371093730
NM_000368.5(TSC1):c.1403C>G (p.Ser468Cys) rs1845695519
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) rs118203527
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.5(TSC1):c.1503A>C (p.Gly501=) rs201810746
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp) rs1243886871
NM_000368.5(TSC1):c.1563G>A (p.Ser521=) rs1554816005
NM_000368.5(TSC1):c.1567G>A (p.Ala523Thr) rs118203548
NM_000368.5(TSC1):c.1569C>T (p.Ala523=) rs1234835402
NM_000368.5(TSC1):c.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.1594A>T (p.Asn532Tyr) rs765149885
NM_000368.5(TSC1):c.1600G>A (p.Glu534Lys) rs796053458
NM_000368.5(TSC1):c.1611C>T (p.His537=) rs898271020
NM_000368.5(TSC1):c.1628T>C (p.Leu543Pro) rs1588310271
NM_000368.5(TSC1):c.1679G>A (p.Gly560Asp) rs1395737285
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs) rs118203557
NM_000368.5(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs) rs1588309702
NM_000368.5(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala) rs1454859974
NM_000368.5(TSC1):c.1721C>T (p.Thr574Ile) rs548002938
NM_000368.5(TSC1):c.1734C>T (p.Thr578=) rs1251871091
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) rs886063623
NM_000368.5(TSC1):c.1749C>T (p.Pro583=) rs876659216
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr) rs786203799
NM_000368.5(TSC1):c.1772C>A (p.Pro591Gln) rs768985094
NM_000368.5(TSC1):c.1777A>G (p.Arg593Gly) rs118203581
NM_000368.5(TSC1):c.1781T>A (p.Val594Glu) rs1060503194
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn) rs1588309025
NM_000368.5(TSC1):c.1855T>G (p.Phe619Val) rs1554815776
NM_000368.5(TSC1):c.186C>G (p.Thr62=) rs1554820640
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala) rs886038287
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs) rs118203595
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.1916G>A (p.Gly639Asp) rs372583166
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr) rs1588308288
NM_000368.5(TSC1):c.1959dup (p.Gln654fs) rs118203603
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu) rs118203608
NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter) rs886041538
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.2027G>A (p.Trp676Ter) rs1554815454
NM_000368.5(TSC1):c.2041+1G>A rs397514842
NM_000368.5(TSC1):c.2041+5del rs1564479424
NM_000368.5(TSC1):c.2042-5A>G rs118203627
NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly) rs786201465
NM_000368.5(TSC1):c.2066G>C (p.Arg689Pro) rs200827913
NM_000368.5(TSC1):c.2072T>C (p.Leu691Pro) rs876658244
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2086C>A (p.Leu696Ile) rs1845506304
NM_000368.5(TSC1):c.208A>G (p.Lys70Glu) rs876658838
NM_000368.5(TSC1):c.2103G>A (p.Gln701=) rs118203639
NM_000368.5(TSC1):c.211-2A>C rs118203352
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.2117G>A (p.Arg706His) rs1588304158
NM_000368.5(TSC1):c.2145del (p.Asn716fs) rs118203650
NM_000368.5(TSC1):c.2149A>C (p.Arg717=) rs1057523194
NM_000368.5(TSC1):c.2162G>A (p.Arg721His) rs769566267
NM_000368.5(TSC1):c.21C>G (p.Val7=) rs145987906
NM_000368.5(TSC1):c.21C>T (p.Val7=) rs145987906
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.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.2236G>T (p.Asp746Tyr) rs786203007
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter) rs118203673
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.2361G>C (p.Glu787Asp) rs1564477079
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys) rs749111647
NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys) rs781371665
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.5(TSC1):c.238G>A (p.Val80Met) rs1588355807
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met) rs1331635112
NM_000368.5(TSC1):c.2394G>A (p.Thr798=) rs1060504860
NM_000368.5(TSC1):c.2412G>A (p.Arg804=) rs1554814676
NM_000368.5(TSC1):c.2444A>C (p.Lys815Thr) rs1588299170
NM_000368.5(TSC1):c.2448G>A (p.Lys816=) rs1588299142
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg) rs1369700443
NM_000368.5(TSC1):c.2499A>G (p.Gln833=) rs1554814615
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter) rs118203706
NM_000368.5(TSC1):c.2508A>C (p.Ser836=) rs1554814456
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.5(TSC1):c.2514T>C (p.Ser838=) 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.2607G>C (p.Lys869Asn) rs1845327520
NM_000368.5(TSC1):c.261dup (p.Ser88fs) rs1588355628
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-3dup rs1554813639
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.2635A>G (p.Met879Val) rs778416424
NM_000368.5(TSC1):c.2640G>T (p.Met880Ile) rs1218889799
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.2672A>G (p.Asn891Ser) rs1060503203
NM_000368.5(TSC1):c.2672dup (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
NM_000368.5(TSC1):c.2700G>C (p.Gln900His) rs560986491
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.2755A>C (p.Lys919Gln) rs1319954878
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.2816G>T (p.Gly939Val) rs1350545510
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000368.5(TSC1):c.2843A>G (p.Tyr948Cys) rs989183765
NM_000368.5(TSC1):c.2890G>A (p.Asp964Asn) rs1033463168
NM_000368.5(TSC1):c.2891A>T (p.Asp964Val) rs1554813302
NM_000368.5(TSC1):c.2904G>A (p.Arg968=) rs1554813280
NM_000368.5(TSC1):c.2933T>A (p.Leu978His) rs770834438
NM_000368.5(TSC1):c.2933T>C (p.Leu978Pro) rs770834438
NM_000368.5(TSC1):c.2934T>C (p.Leu978=) rs1554813253
NM_000368.5(TSC1):c.2938G>A (p.Glu980Lys) rs876658600
NM_000368.5(TSC1):c.2975+4G>C rs1057521710
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile) rs751970451
NM_000368.5(TSC1):c.3013G>A (p.Val1005Ile) rs1588288220
NM_000368.5(TSC1):c.304T>C (p.Ser102Pro) rs796053453
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=) rs1380396209
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.3125G>A (p.Ser1042Asn) rs148931779
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.3159C>T (p.His1053=) rs778413037
NM_000368.5(TSC1):c.3170G>T (p.Gly1057Val) rs1588287204
NM_000368.5(TSC1):c.3240A>G (p.Ser1080=) rs1554812759
NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala) rs1060503191
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser) rs747053008
NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser) rs1554812687
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.3327G>T (p.Met1109Ile) rs1845043593
NM_000368.5(TSC1):c.3336C>T (p.Ser1112=) rs761334590
NM_000368.5(TSC1):c.33T>C (p.Leu11=) rs1329395556
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.3424C>G (p.Pro1142Ala) rs1060503227
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.3453A>G (p.Leu1151=) rs1554812550
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp) rs796053451
NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp) rs749746550
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe) rs755799702
NM_000368.5(TSC1):c.356G>T (p.Cys119Phe) rs1554820265
NM_000368.5(TSC1):c.363+3_363+18del rs1554820251
NM_000368.5(TSC1):c.403G>A (p.Val135Met) rs1588350708
NM_000368.5(TSC1):c.419T>C (p.Leu140Pro) rs1588350642
NM_000368.5(TSC1):c.425T>C (p.Met142Thr) rs886042190
NM_000368.5(TSC1):c.42G>A (p.Leu14=) rs762233181
NM_000368.5(TSC1):c.43G>A (p.Asp15Asn) rs1554821020
NM_000368.5(TSC1):c.445C>G (p.Gln149Glu) rs118203384
NM_000368.5(TSC1):c.460T>A (p.Phe154Ile) rs1485129708
NM_000368.5(TSC1):c.469A>G (p.Ile157Val) rs1846673273
NM_000368.5(TSC1):c.47C>T (p.Ser16Phe) rs774900322
NM_000368.5(TSC1):c.492G>A (p.Trp164Ter) rs1554819870
NM_000368.5(TSC1):c.515T>A (p.Val172Glu) rs751092692
NM_000368.5(TSC1):c.541C>T (p.His181Tyr) rs1057524690
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.556G>A (p.Ala186Thr) rs1279777367
NM_000368.5(TSC1):c.569G>A (p.Arg190His) rs118203402
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer) rs118203417
NM_000368.5(TSC1):c.648del (p.Phe216fs) rs118203417
NM_000368.5(TSC1):c.660C>T (p.Val220=) rs1588346808
NM_000368.5(TSC1):c.663+1G>A rs118203419
NM_000368.5(TSC1):c.663G>A (p.Lys221=) rs868715706
NM_000368.5(TSC1):c.664-1G>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.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.737+1G>A 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.738-2A>T rs118203440
NM_000368.5(TSC1):c.765T>G (p.Val255=) rs1588327624
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter) rs118203450
NM_000368.5(TSC1):c.779C>T (p.Ala260Val) rs758617649
NM_000368.5(TSC1):c.797C>T (p.Pro266Leu) rs1554817662
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.874G>A (p.Val292Ile) rs1588326825
NM_000368.5(TSC1):c.878C>G (p.Thr293Ser) rs756681916
NM_000368.5(TSC1):c.882C>T (p.Thr294=) rs1588326689
NM_000368.5(TSC1):c.892G>A (p.Ala298Thr) rs1846004547
NM_000368.5(TSC1):c.901_902del (p.Gln301fs) rs118203464
NM_000368.5(TSC1):c.915G>A (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.915G>T (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.923C>A (p.Thr308Asn) rs1554817432
NM_000368.5(TSC1):c.931C>A (p.Pro311Thr) rs1332186256
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter) rs118203474
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter) rs1554817388
NM_000368.5(TSC1):c.989_990del (p.Leu330fs) rs118203479
NM_000368.5(TSC1):c.989dup (p.Ser331fs) rs118203478

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