ClinVar Miner

List of variants in gene TSC1 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 787
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln) rs549467159 0.00008
NM_000368.5(TSC1):c.110G>A (p.Arg37His) rs750441497 0.00004
NM_000368.5(TSC1):c.1885A>C (p.Lys629Gln) rs865941509 0.00004
NM_000368.5(TSC1):c.1721C>G (p.Thr574Ser) rs548002938 0.00003
NM_000368.5(TSC1):c.1888A>C (p.Lys630Gln) rs1158059433 0.00003
NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly) rs939275328 0.00003
NM_000368.5(TSC1):c.2677A>C (p.Ser893Arg) rs1396314595 0.00003
NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg) rs1433723046 0.00003
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly) rs768624733 0.00003
NM_000368.5(TSC1):c.348A>C (p.Leu116Phe) rs755799702 0.00003
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr) rs1007335343 0.00003
NM_000368.5(TSC1):c.65G>A (p.Arg22Gln) rs141736779 0.00003
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln) rs755859330 0.00003
NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg) rs878853959 0.00002
NM_000368.5(TSC1):c.167C>T (p.Pro56Leu) rs750512029 0.00002
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys) rs202241429 0.00002
NM_000368.5(TSC1):c.2303G>A (p.Arg768His) rs1033725987 0.00002
NM_000368.5(TSC1):c.2776C>G (p.Gln926Glu) rs397514879 0.00002
NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly) rs760762170 0.00002
NM_000368.5(TSC1):c.3253A>G (p.Lys1085Glu) rs1442514678 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.389C>T (p.Thr130Ile) rs779340088 0.00002
NM_000368.5(TSC1):c.542A>T (p.His181Leu) rs397515294 0.00002
NM_000368.5(TSC1):c.569G>A (p.Arg190His) rs118203402 0.00002
NM_000368.5(TSC1):c.106+4A>G rs373075566 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.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.1105C>A (p.Leu369Met) rs118203496 0.00001
NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala) rs760638759 0.00001
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512 0.00001
NM_000368.5(TSC1):c.1166G>A (p.Gly389Glu) rs752575728 0.00001
NM_000368.5(TSC1):c.1193C>T (p.Ala398Val) rs918660416 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.1237C>G (p.Gln413Glu) rs1588321339 0.00001
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg) rs1060503218 0.00001
NM_000368.5(TSC1):c.1244C>T (p.Thr415Ile) rs746550630 0.00001
NM_000368.5(TSC1):c.1263+5G>A rs767745683 0.00001
NM_000368.5(TSC1):c.1269G>C (p.Glu423Asp) rs1272450087 0.00001
NM_000368.5(TSC1):c.1282G>C (p.Ala428Pro) rs1845728007 0.00001
NM_000368.5(TSC1):c.1283C>T (p.Ala428Val) rs1554816420 0.00001
NM_000368.5(TSC1):c.130A>G (p.Thr44Ala) rs1399266964 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.1418T>C (p.Ile473Thr) rs185159716 0.00001
NM_000368.5(TSC1):c.1562C>T (p.Ser521Leu) rs759379027 0.00001
NM_000368.5(TSC1):c.1564G>C (p.Ala522Pro) rs1461138345 0.00001
NM_000368.5(TSC1):c.1571C>T (p.Ser524Phe) rs1276296733 0.00001
NM_000368.5(TSC1):c.1574G>C (p.Ser525Thr) rs750784794 0.00001
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr) rs765149885 0.00001
NM_000368.5(TSC1):c.1602G>T (p.Glu534Asp) rs1419023919 0.00001
NM_000368.5(TSC1):c.1643C>T (p.Pro548Leu) rs1588310178 0.00001
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) rs886063623 0.00001
NM_000368.5(TSC1):c.1754C>T (p.Pro585Leu) rs1845627444 0.00001
NM_000368.5(TSC1):c.1800G>C (p.Gln600His) rs1254353359 0.00001
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817 0.00001
NM_000368.5(TSC1):c.1818T>A (p.His606Gln) rs758769193 0.00001
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile) rs754401816 0.00001
NM_000368.5(TSC1):c.1943T>C (p.Val648Ala) rs771341361 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.2032C>T (p.His678Tyr) rs755647717 0.00001
NM_000368.5(TSC1):c.2033A>T (p.His678Leu) rs745413532 0.00001
NM_000368.5(TSC1):c.2038G>A (p.Gly680Arg) rs757322533 0.00001
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His) rs776386313 0.00001
NM_000368.5(TSC1):c.2298G>C (p.Glu766Asp) rs1403227945 0.00001
NM_000368.5(TSC1):c.22G>A (p.Gly8Arg) rs773784532 0.00001
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr) rs760208449 0.00001
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys) rs749111647 0.00001
NM_000368.5(TSC1):c.23G>C (p.Gly8Ala) rs1269896419 0.00001
NM_000368.5(TSC1):c.2502+3A>G rs1349115830 0.00001
NM_000368.5(TSC1):c.2503-4T>G rs772414581 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.2651A>G (p.Tyr884Cys) rs1449821288 0.00001
NM_000368.5(TSC1):c.2690A>T (p.Gln897Leu) rs772324460 0.00001
NM_000368.5(TSC1):c.2722C>T (p.Arg908Trp) rs748845915 0.00001
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln) rs780115763 0.00001
NM_000368.5(TSC1):c.2726T>C (p.Ile909Thr) rs1374339026 0.00001
NM_000368.5(TSC1):c.272C>G (p.Ser91Trp) rs118203361 0.00001
NM_000368.5(TSC1):c.2803C>T (p.Leu935Phe) rs1172586020 0.00001
NM_000368.5(TSC1):c.2867A>G (p.Gln956Arg) rs1212768461 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.2897A>G (p.Tyr966Cys) rs762213436 0.00001
NM_000368.5(TSC1):c.2933T>G (p.Leu978Arg) rs770834438 0.00001
NM_000368.5(TSC1):c.2976-2A>G rs1588288463 0.00001
NM_000368.5(TSC1):c.3011T>C (p.Met1004Thr) rs757370776 0.00001
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser) rs1263094349 0.00001
NM_000368.5(TSC1):c.3046G>A (p.Gly1016Ser) rs1020905743 0.00001
NM_000368.5(TSC1):c.305C>G (p.Ser102Cys) rs1307630727 0.00001
NM_000368.5(TSC1):c.3062C>T (p.Pro1021Leu) rs1845082733 0.00001
NM_000368.5(TSC1):c.3080G>T (p.Arg1027Leu) rs796053461 0.00001
NM_000368.5(TSC1):c.3092G>A (p.Gly1031Glu) rs1845079425 0.00001
NM_000368.5(TSC1):c.3101G>A (p.Gly1034Asp) rs1034398735 0.00001
NM_000368.5(TSC1):c.3115A>G (p.Ser1039Gly) rs1490199228 0.00001
NM_000368.5(TSC1):c.312G>T (p.Lys104Asn) rs1554820281 0.00001
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462 0.00001
NM_000368.5(TSC1):c.3169G>A (p.Gly1057Ser) rs587778727 0.00001
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu) rs753263747 0.00001
NM_000368.5(TSC1):c.3181A>G (p.Ser1061Gly) rs1203493016 0.00001
NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln) rs755396992 0.00001
NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg) rs1167362899 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.331C>T (p.Pro111Ser) rs748669519 0.00001
NM_000368.5(TSC1):c.3350T>C (p.Leu1117Pro) rs762641110 0.00001
NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val) rs772233665 0.00001
NM_000368.5(TSC1):c.3390G>C (p.Lys1130Asn) rs1845035929 0.00001
NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser) rs1249897804 0.00001
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082 0.00001
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro) rs764018144 0.00001
NM_000368.5(TSC1):c.3424C>T (p.Pro1142Ser) rs1060503227 0.00001
NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu) rs767904247 0.00001
NM_000368.5(TSC1):c.3475A>T (p.Thr1159Ser) rs1216169846 0.00001
NM_000368.5(TSC1):c.3478C>T (p.His1160Tyr) rs1470270925 0.00001
NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp) rs749746550 0.00001
NM_000368.5(TSC1):c.371C>G (p.Thr124Ser) rs747251435 0.00001
NM_000368.5(TSC1):c.38T>C (p.Met13Thr) rs1041071543 0.00001
NM_000368.5(TSC1):c.413C>A (p.Thr138Asn) rs1163879822 0.00001
NM_000368.5(TSC1):c.418C>G (p.Leu140Val) rs1554819915 0.00001
NM_000368.5(TSC1):c.424A>G (p.Met142Val) rs1846677025 0.00001
NM_000368.5(TSC1):c.458A>G (p.Asp153Gly) rs1846674570 0.00001
NM_000368.5(TSC1):c.50C>G (p.Pro17Arg) rs1189239082 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.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.670A>T (p.Met224Leu) rs535397245 0.00001
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn) rs984306144 0.00001
NM_000368.5(TSC1):c.772G>A (p.Glu258Lys) rs118203450 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.871G>A (p.Asp291Asn) rs755195460 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.966G>A (p.Met322Ile) rs397514807 0.00001
NM_000368.5(TSC1):c.-3A>G
NM_000368.5(TSC1):c.1002G>C (p.Ser334=) rs200820603
NM_000368.5(TSC1):c.1007G>T (p.Arg336Leu)
NM_000368.5(TSC1):c.101A>G (p.Asn34Ser) rs980870206
NM_000368.5(TSC1):c.101A>T (p.Asn34Ile)
NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu) rs1588324106
NM_000368.5(TSC1):c.1024C>T (p.Pro342Ser)
NM_000368.5(TSC1):c.1025C>T (p.Pro342Leu) rs1060503197
NM_000368.5(TSC1):c.1029+5G>A rs1845952054
NM_000368.5(TSC1):c.1030-3C>T rs118203488
NM_000368.5(TSC1):c.1030-5C>T rs1588323218
NM_000368.5(TSC1):c.1031C>A (p.Ala344Asp)
NM_000368.5(TSC1):c.1041G>C (p.Trp347Cys) rs118203491
NM_000368.5(TSC1):c.1054G>A (p.Val352Ile) rs796053447
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr) rs876660024
NM_000368.5(TSC1):c.1059_1060insTAC (p.Cys353_Gly354insTyr) rs2131962787
NM_000368.5(TSC1):c.106+5G>A rs1554820973
NM_000368.5(TSC1):c.1060G>A (p.Gly354Ser)
NM_000368.5(TSC1):c.1061G>A (p.Gly354Asp)
NM_000368.5(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.5(TSC1):c.1065G>T (p.Met355Ile)
NM_000368.5(TSC1):c.1067C>A (p.Thr356Asn) rs1845931432
NM_000368.5(TSC1):c.1073C>T (p.Pro358Leu) rs2131961651
NM_000368.5(TSC1):c.1075C>G (p.Pro359Ala)
NM_000368.5(TSC1):c.1079C>G (p.Thr360Ser) rs118203493
NM_000368.5(TSC1):c.107A>T (p.Asp36Val) rs148468036
NM_000368.5(TSC1):c.1084_1086del (p.Pro362del) rs1554817252
NM_000368.5(TSC1):c.108C>G (p.Asp36Glu)
NM_000368.5(TSC1):c.1094T>C (p.Val365Ala) rs2131960121
NM_000368.5(TSC1):c.109C>A (p.Arg37Ser) rs1309560054
NM_000368.5(TSC1):c.10C>A (p.Gln4Lys)
NM_000368.5(TSC1):c.1109C>T (p.Ser370Leu) rs796053457
NM_000368.5(TSC1):c.1121G>A (p.Ser374Asn) rs1564488001
NM_000368.5(TSC1):c.1123A>G (p.Lys375Glu) rs1564487989
NM_000368.5(TSC1):c.1127T>A (p.Val376Asp) rs1588322703
NM_000368.5(TSC1):c.1129T>C (p.Phe377Leu) rs1845926660
NM_000368.5(TSC1):c.112G>T (p.Gly38Cys) rs1846929239
NM_000368.5(TSC1):c.1133G>A (p.Gly378Asp)
NM_000368.5(TSC1):c.1138A>G (p.Thr380Ala) rs1060503216
NM_000368.5(TSC1):c.1141+3A>G
NM_000368.5(TSC1):c.1151A>G (p.Lys384Arg) rs1845907002
NM_000368.5(TSC1):c.1156A>C (p.Thr386Pro)
NM_000368.5(TSC1):c.1159C>T (p.Pro387Ser)
NM_000368.5(TSC1):c.1172C>T (p.Pro391Leu)
NM_000368.5(TSC1):c.1177A>T (p.Thr393Ser) rs1845904791
NM_000368.5(TSC1):c.1195C>G (p.Pro399Ala) rs1060503211
NM_000368.5(TSC1):c.1195C>T (p.Pro399Ser) rs1060503211
NM_000368.5(TSC1):c.1202G>A (p.Cys401Tyr) rs2131942881
NM_000368.5(TSC1):c.1211A>T (p.Asp404Val) rs1554817130
NM_000368.5(TSC1):c.1219G>C (p.Val407Leu) rs769331772
NM_000368.5(TSC1):c.1222C>T (p.His408Tyr)
NM_000368.5(TSC1):c.1223A>C (p.His408Pro) rs1554817122
NM_000368.5(TSC1):c.1225A>T (p.Ile409Phe)
NM_000368.5(TSC1):c.1227T>G (p.Ile409Met)
NM_000368.5(TSC1):c.1229C>T (p.Ser410Leu) rs1564487289
NM_000368.5(TSC1):c.1234C>T (p.Pro412Ser)
NM_000368.5(TSC1):c.1247T>A (p.Val416Asp)
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys) rs77464996
NM_000368.5(TSC1):c.1252C>G (p.Pro418Ala) rs1845895299
NM_000368.5(TSC1):c.1255C>A (p.Pro419Thr)
NM_000368.5(TSC1):c.1256C>A (p.Pro419His) rs878853959
NM_000368.5(TSC1):c.1256C>T (p.Pro419Leu) rs878853959
NM_000368.5(TSC1):c.1261_1263dup (p.Lys421_Glu422insLys)
NM_000368.5(TSC1):c.1263+4C>T rs1554817077
NM_000368.5(TSC1):c.1274T>G (p.Met425Arg)
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu) rs587778721
NM_000368.5(TSC1):c.1289C>T (p.Pro430Leu) rs1845727308
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg) rs762688935
NM_000368.5(TSC1):c.1294C>A (p.Leu432Ile)
NM_000368.5(TSC1):c.1298A>G (p.His433Arg) rs1554816403
NM_000368.5(TSC1):c.1305A>C (p.Gln435His) rs1334781311
NM_000368.5(TSC1):c.1309C>G (p.His437Asp) rs985183299
NM_000368.5(TSC1):c.1309C>T (p.His437Tyr) rs985183299
NM_000368.5(TSC1):c.130A>T (p.Thr44Ser) rs1399266964
NM_000368.5(TSC1):c.1319A>G (p.Asn440Ser) rs2131879422
NM_000368.5(TSC1):c.1336G>C (p.Glu446Gln)
NM_000368.5(TSC1):c.1338G>C (p.Glu446Asp)
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala) rs1588313030
NM_000368.5(TSC1):c.1343C>T (p.Pro448Leu) rs397514848
NM_000368.5(TSC1):c.1355G>A (p.Gly452Asp) rs371093730
NM_000368.5(TSC1):c.1355G>T (p.Gly452Val)
NM_000368.5(TSC1):c.1363A>G (p.Thr455Ala)
NM_000368.5(TSC1):c.1370G>A (p.Ser457Asn) rs2131866202
NM_000368.5(TSC1):c.1372G>C (p.Asp458His) rs2131866030
NM_000368.5(TSC1):c.1382G>A (p.Gly461Glu) rs140953644
NM_000368.5(TSC1):c.1385T>C (p.Phe462Ser) rs1588312788
NM_000368.5(TSC1):c.1407A>C (p.Glu469Asp)
NM_000368.5(TSC1):c.1412A>T (p.Asp471Val) rs2131863099
NM_000368.5(TSC1):c.1415G>A (p.Ser472Asn) rs1203620977
NM_000368.5(TSC1):c.1415G>C (p.Ser472Thr) rs1203620977
NM_000368.5(TSC1):c.1418T>A (p.Ile473Asn)
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr) rs1554816213
NM_000368.5(TSC1):c.1430A>T (p.Lys477Ile)
NM_000368.5(TSC1):c.1432G>C (p.Glu478Gln)
NM_000368.5(TSC1):c.1444A>G (p.Ile482Val)
NM_000368.5(TSC1):c.1446A>G (p.Ile482Met) rs1845658834
NM_000368.5(TSC1):c.1467CAC[1] (p.Thr491del) rs1554816071
NM_000368.5(TSC1):c.1469C>T (p.Thr490Ile) rs1564482593
NM_000368.5(TSC1):c.1486C>T (p.Pro496Ser)
NM_000368.5(TSC1):c.148C>G (p.Leu50Val) rs2132268675
NM_000368.5(TSC1):c.1492G>A (p.Val498Ile)
NM_000368.5(TSC1):c.149T>G (p.Leu50Arg)
NM_000368.5(TSC1):c.1534C>T (p.Leu512Phe)
NM_000368.5(TSC1):c.1538C>T (p.Pro513Leu)
NM_000368.5(TSC1):c.1541G>T (p.Gly514Val)
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp) rs1243886871
NM_000368.5(TSC1):c.1558C>T (p.His520Tyr) rs1845649293
NM_000368.5(TSC1):c.1567G>A (p.Ala523Thr) rs118203548
NM_000368.5(TSC1):c.1581G>C (p.Gln527His) rs1554815989
NM_000368.5(TSC1):c.1585G>T (p.Ala529Ser) rs751125011
NM_000368.5(TSC1):c.1588A>G (p.Ser530Gly)
NM_000368.5(TSC1):c.158G>C (p.Ser53Thr)
NM_000368.5(TSC1):c.1600G>C (p.Glu534Gln)
NM_000368.5(TSC1):c.1602_1603delinsTG (p.Glu534_Pro535delinsAspAla) rs1554815972
NM_000368.5(TSC1):c.1603C>G (p.Pro535Ala)
NM_000368.5(TSC1):c.1604C>T (p.Pro535Leu) rs1164741723
NM_000368.5(TSC1):c.1623C>G (p.Asp541Glu) rs1346059974
NM_000368.5(TSC1):c.1624A>G (p.Lys542Glu) rs1845641716
NM_000368.5(TSC1):c.1628T>C (p.Leu543Pro) rs1588310271
NM_000368.5(TSC1):c.1634C>G (p.Pro545Arg)
NM_000368.5(TSC1):c.1640C>T (p.Thr547Ile)
NM_000368.5(TSC1):c.1645A>G (p.Lys549Glu)
NM_000368.5(TSC1):c.1666G>T (p.Asp556Tyr)
NM_000368.5(TSC1):c.1668C>A (p.Asp556Glu) rs1845637294
NM_000368.5(TSC1):c.1679G>A (p.Gly560Asp) rs1395737285
NM_000368.5(TSC1):c.1679G>T (p.Gly560Val) rs1395737285
NM_000368.5(TSC1):c.1687G>A (p.Asp563Asn) rs1554815931
NM_000368.5(TSC1):c.1687G>C (p.Asp563His) rs1554815931
NM_000368.5(TSC1):c.1688A>G (p.Asp563Gly) rs1588309959
NM_000368.5(TSC1):c.1700C>A (p.Ala567Glu)
NM_000368.5(TSC1):c.1706A>G (p.Asp569Gly) rs1588309831
NM_000368.5(TSC1):c.1711G>A (p.Glu571Lys)
NM_000368.5(TSC1):c.1721C>T (p.Thr574Ile) rs548002938
NM_000368.5(TSC1):c.1729G>A (p.Glu577Lys) rs118203570
NM_000368.5(TSC1):c.1733C>T (p.Thr578Ile) rs1588309612
NM_000368.5(TSC1):c.1735A>G (p.Ser579Gly) rs1845629411
NM_000368.5(TSC1):c.1735A>T (p.Ser579Cys)
NM_000368.5(TSC1):c.1744A>G (p.Thr582Ala) rs1564481573
NM_000368.5(TSC1):c.1747C>T (p.Pro583Ser)
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr) rs786203799
NM_000368.5(TSC1):c.1752T>G (p.Ser584Arg) rs1845627777
NM_000368.5(TSC1):c.1753C>T (p.Pro585Ser) rs766367103
NM_000368.5(TSC1):c.175C>T (p.His59Tyr)
NM_000368.5(TSC1):c.1781T>A (p.Val594Glu) rs1060503194
NM_000368.5(TSC1):c.1794C>A (p.Ser598Arg) rs766438395
NM_000368.5(TSC1):c.1796G>A (p.Gly599Glu) rs1845622314
NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu) rs543077026
NM_000368.5(TSC1):c.1804C>A (p.Pro602Thr) rs1588309106
NM_000368.5(TSC1):c.1808C>A (p.Pro603Gln) rs751247705
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg) rs751247705
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn) rs1588309025
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe) rs1554815795
NM_000368.5(TSC1):c.1822T>C (p.Phe608Leu) rs1845619679
NM_000368.5(TSC1):c.1829T>A (p.Val610Glu)
NM_000368.5(TSC1):c.1844C>T (p.Thr615Ile) rs1588308884
NM_000368.5(TSC1):c.1846G>A (p.Ala616Thr) rs1845618225
NM_000368.5(TSC1):c.1852C>G (p.His618Asp) rs1588308804
NM_000368.5(TSC1):c.1853A>G (p.His618Arg) rs2131818558
NM_000368.5(TSC1):c.1855T>G (p.Phe619Val) rs1554815776
NM_000368.5(TSC1):c.1858G>A (p.Val620Ile)
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala) rs886038287
NM_000368.5(TSC1):c.1879C>G (p.Leu627Val)
NM_000368.5(TSC1):c.1884_1885delinsGC (p.Lys629Gln) rs1554815756
NM_000368.5(TSC1):c.1894A>G (p.Lys632Glu)
NM_000368.5(TSC1):c.1895A>G (p.Lys632Arg) rs1554815747
NM_000368.5(TSC1):c.1910A>G (p.Glu637Gly)
NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp) rs372583166
NM_000368.5(TSC1):c.1927A>T (p.Thr643Ser)
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu) rs1269162063
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr) rs1588308288
NM_000368.5(TSC1):c.1941A>T (p.Glu647Asp)
NM_000368.5(TSC1):c.1948G>A (p.Asp650Asn)
NM_000368.5(TSC1):c.1955T>G (p.Leu652Arg)
NM_000368.5(TSC1):c.1958T>G (p.Ile653Arg)
NM_000368.5(TSC1):c.1964A>T (p.Gln655Leu)
NM_000368.5(TSC1):c.1967G>A (p.Gly656Glu)
NM_000368.5(TSC1):c.1967G>C (p.Gly656Ala) rs1554815701
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu) rs118203608
NM_000368.5(TSC1):c.1983C>A (p.Ser661Arg)
NM_000368.5(TSC1):c.1986G>T (p.Lys662Asn)
NM_000368.5(TSC1):c.1995C>G (p.Asn665Lys) rs748733167
NM_000368.5(TSC1):c.1998-5C>T rs1845548849
NM_000368.5(TSC1):c.1998-81A>C
NM_000368.5(TSC1):c.2009C>A (p.Pro670His)
NM_000368.5(TSC1):c.2015A>C (p.Lys672Thr)
NM_000368.5(TSC1):c.2023G>A (p.Asp675Asn) rs768189353
NM_000368.5(TSC1):c.2023G>T (p.Asp675Tyr) rs768189353
NM_000368.5(TSC1):c.2033A>G (p.His678Arg) rs745413532
NM_000368.5(TSC1):c.2037T>G (p.Phe679Leu)
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu) rs118203623
NM_000368.5(TSC1):c.2041+5del rs1564479424
NM_000368.5(TSC1):c.2042-5A>G rs118203627
NM_000368.5(TSC1):c.2042-5A>T rs118203627
NM_000368.5(TSC1):c.2042G>A (p.Gly681Asp)
NM_000368.5(TSC1):c.2045C>G (p.Ser682Cys) rs919177189
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del) rs397514799
NM_000368.5(TSC1):c.2050C>T (p.Pro684Ser) rs746909024
NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg) rs1845511359
NM_000368.5(TSC1):c.2056G>A (p.Asp686Asn) rs1406756346
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.2068A>G (p.Thr690Ala) rs752473063
NM_000368.5(TSC1):c.2069C>T (p.Thr690Ile) rs1845509575
NM_000368.5(TSC1):c.2071C>G (p.Leu691Val) rs1554815343
NM_000368.5(TSC1):c.2071C>T (p.Leu691Phe) rs1554815343
NM_000368.5(TSC1):c.2072T>C (p.Leu691Pro) rs876658244
NM_000368.5(TSC1):c.2075G>C (p.Arg692Pro) rs199755731
NM_000368.5(TSC1):c.2086C>T (p.Leu696Phe) rs1845506304
NM_000368.5(TSC1):c.2087T>C (p.Leu696Pro)
NM_000368.5(TSC1):c.2087T>G (p.Leu696Arg)
NM_000368.5(TSC1):c.208A>G (p.Lys70Glu) rs876658838
NM_000368.5(TSC1):c.2091A>T (p.Leu697Phe)
NM_000368.5(TSC1):c.2092C>A (p.Leu698Met)
NM_000368.5(TSC1):c.2097C>G (p.His699Gln)
NM_000368.5(TSC1):c.2102A>C (p.Gln701Pro)
NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys) rs752054698
NM_000368.5(TSC1):c.2116C>T (p.Arg706Cys) rs1588304163
NM_000368.5(TSC1):c.2117G>A (p.Arg706His) rs1588304158
NM_000368.5(TSC1):c.2119T>C (p.Phe707Leu) rs1845501093
NM_000368.5(TSC1):c.2127G>C (p.Arg709Ser)
NM_000368.5(TSC1):c.2131C>A (p.Gln711Lys) rs118203647
NM_000368.5(TSC1):c.2132A>G (p.Gln711Arg)
NM_000368.5(TSC1):c.2138C>G (p.Ala713Gly)
NM_000368.5(TSC1):c.2140C>G (p.Leu714Val)
NM_000368.5(TSC1):c.2144G>T (p.Arg715Leu)
NM_000368.5(TSC1):c.2152C>T (p.Arg718Trp) rs1445358121
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln) rs1060503207
NM_000368.5(TSC1):c.2155C>G (p.Leu719Val)
NM_000368.5(TSC1):c.2155C>T (p.Leu719Phe)
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.2173A>G (p.Lys725Glu)
NM_000368.5(TSC1):c.2177C>T (p.Ala726Val)
NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr) rs1845494587
NM_000368.5(TSC1):c.2192A>T (p.Glu731Val)
NM_000368.5(TSC1):c.2206A>T (p.Met736Leu) rs2131756215
NM_000368.5(TSC1):c.2209-2A>G
NM_000368.5(TSC1):c.2214T>A (p.Asp738Glu) rs1588302102
NM_000368.5(TSC1):c.221A>G (p.Asp74Gly) rs1846821741
NM_000368.5(TSC1):c.2222A>C (p.Lys741Thr) rs1588302047
NM_000368.5(TSC1):c.2229A>T (p.Gln743His)
NM_000368.5(TSC1):c.2235G>C (p.Lys745Asn) rs753265422
NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr) rs786203007
NM_000368.5(TSC1):c.2254G>A (p.Val752Ile) rs765643529
NM_000368.5(TSC1):c.225G>T (p.Arg75Ser)
NM_000368.5(TSC1):c.2275G>A (p.Ala759Thr) rs1060503199
NM_000368.5(TSC1):c.2276C>G (p.Ala759Gly) rs1554815021
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp) rs1264839312
NM_000368.5(TSC1):c.2291T>A (p.Leu764His)
NM_000368.5(TSC1):c.2291_2292delinsAA (p.Leu764Gln)
NM_000368.5(TSC1):c.2296G>C (p.Glu766Gln) rs1588301609
NM_000368.5(TSC1):c.2297A>G (p.Glu766Gly) rs1588301593
NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu) rs118203675
NM_000368.5(TSC1):c.2300A>G (p.Gln767Arg) rs1845449144
NM_000368.5(TSC1):c.2302C>T (p.Arg768Cys) rs1588301564
NM_000368.5(TSC1):c.2314G>C (p.Val772Leu)
NM_000368.5(TSC1):c.2327A>G (p.His776Arg)
NM_000368.5(TSC1):c.2329A>G (p.Ser777Gly) rs1554814968
NM_000368.5(TSC1):c.232G>C (p.Glu78Gln) rs1588355838
NM_000368.5(TSC1):c.2331C>G (p.Ser777Arg) rs1554814967
NM_000368.5(TSC1):c.2335A>G (p.Ile779Val) rs1845445721
NM_000368.5(TSC1):c.2339G>A (p.Arg780Lys) rs1845445479
NM_000368.5(TSC1):c.2356C>G (p.Arg786Gly)
NM_000368.5(TSC1):c.2359G>A (p.Glu787Lys) rs1564477097
NM_000368.5(TSC1):c.2361G>C (p.Glu787Asp) rs1564477079
NM_000368.5(TSC1):c.2364A>C (p.Glu788Asp)
NM_000368.5(TSC1):c.236A>T (p.Tyr79Phe)
NM_000368.5(TSC1):c.2372A>G (p.Asn791Ser) rs876660894
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg) rs796053460
NM_000368.5(TSC1):c.2378G>A (p.Ser793Asn) rs2131728548
NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys) rs781371665
NM_000368.5(TSC1):c.2389C>A (p.Gln797Lys) rs397514862
NM_000368.5(TSC1):c.238G>A (p.Val80Met) rs1588355807
NM_000368.5(TSC1):c.2392-5G>A rs1463016849
NM_000368.5(TSC1):c.2393C>G (p.Thr798Arg)
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met) rs1331635112
NM_000368.5(TSC1):c.2417T>C (p.Met806Thr) rs2131708510
NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr) rs118203690
NM_000368.5(TSC1):c.2425G>A (p.Glu809Lys) rs118203692
NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp) rs397514814
NM_000368.5(TSC1):c.2438A>T (p.Glu813Val)
NM_000368.5(TSC1):c.2444A>C (p.Lys815Thr) rs1588299170
NM_000368.5(TSC1):c.2445G>T (p.Lys815Asn)
NM_000368.5(TSC1):c.2447A>G (p.Lys816Arg)
NM_000368.5(TSC1):c.2448G>T (p.Lys816Asn)
NM_000368.5(TSC1):c.2450C>T (p.Ala817Val) rs1845377267
NM_000368.5(TSC1):c.2451CAA[2] (p.Asn819del) rs1588299112
NM_000368.5(TSC1):c.2452A>G (p.Asn818Asp)
NM_000368.5(TSC1):c.2454C>G (p.Asn818Lys) rs1014587956
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg) rs1369700443
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala) rs1554814639
NM_000368.5(TSC1):c.2474A>G (p.Glu825Gly)
NM_000368.5(TSC1):c.247G>C (p.Ala83Pro) rs76667066
NM_000368.5(TSC1):c.2485A>G (p.Ser829Gly)
NM_000368.5(TSC1):c.2491G>T (p.Val831Phe) rs773279842
NM_000368.5(TSC1):c.2502+1G>A
NM_000368.5(TSC1):c.2503-4T>C rs772414581
NM_000368.5(TSC1):c.2503C>G (p.Leu835Val)
NM_000368.5(TSC1):c.2509A>C (p.Asn837His)
NM_000368.5(TSC1):c.2509A>G (p.Asn837Asp)
NM_000368.5(TSC1):c.250G>T (p.Ala84Ser)
NM_000368.5(TSC1):c.2512A>G (p.Ser838Gly) rs1845335475
NM_000368.5(TSC1):c.2513G>C (p.Ser838Thr) rs1060503208
NM_000368.5(TSC1):c.2514T>A (p.Ser838Arg)
NM_000368.5(TSC1):c.2514T>G (p.Ser838Arg) rs786203259
NM_000368.5(TSC1):c.2515G>A (p.Glu839Lys) rs2131689008
NM_000368.5(TSC1):c.2516A>G (p.Glu839Gly) rs1588297551
NM_000368.5(TSC1):c.2521G>T (p.Val841Phe) rs1343088775
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys) rs1463772907
NM_000368.5(TSC1):c.2572G>A (p.Val858Ile) rs1845329722
NM_000368.5(TSC1):c.2578G>A (p.Glu860Lys) rs1169898186
NM_000368.5(TSC1):c.257G>A (p.Arg86His) rs1846818019
NM_000368.5(TSC1):c.2608C>G (p.His870Asp)
NM_000368.5(TSC1):c.2610C>G (p.His870Gln)
NM_000368.5(TSC1):c.2614G>A (p.Asp872Asn) rs746607455
NM_000368.5(TSC1):c.2614G>T (p.Asp872Tyr)
NM_000368.5(TSC1):c.2620A>C (p.Thr874Pro) rs1554814368
NM_000368.5(TSC1):c.2624_2625+3dup
NM_000368.5(TSC1):c.2626-5T>G rs1444272064
NM_000368.5(TSC1):c.2626G>A (p.Glu876Lys) rs747602915
NM_000368.5(TSC1):c.2629G>A (p.Val877Ile) rs1321117036
NM_000368.5(TSC1):c.262T>G (p.Ser88Ala)
NM_000368.5(TSC1):c.2635A>G (p.Met879Val) rs778416424
NM_000368.5(TSC1):c.2637G>A (p.Met879Ile) rs1554813610
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile) rs1554813610
NM_000368.5(TSC1):c.2640G>T (p.Met880Ile) rs1218889799
NM_000368.5(TSC1):c.2643A>T (p.Lys881Asn) rs1554813602
NM_000368.5(TSC1):c.2648C>T (p.Ala883Val)
NM_000368.5(TSC1):c.2656A>G (p.Lys886Glu) rs1554813568
NM_000368.5(TSC1):c.265A>G (p.Ile89Val) rs1564501798
NM_000368.5(TSC1):c.2665G>A (p.Glu889Lys)
NM_000368.5(TSC1):c.2665_2666delinsAT (p.Glu889Ile) rs587778724
NM_000368.5(TSC1):c.2666A>T (p.Glu889Val)
NM_000368.5(TSC1):c.2667A>T (p.Glu889Asp)
NM_000368.5(TSC1):c.2668A>G (p.Lys890Glu) rs543892243
NM_000368.5(TSC1):c.2672A>G (p.Asn891Ser) rs1060503203
NM_000368.5(TSC1):c.2673C>A (p.Asn891Lys)
NM_000368.5(TSC1):c.2675G>A (p.Arg892Lys)
NM_000368.5(TSC1):c.267C>G (p.Ile89Met) rs1846816338
NM_000368.5(TSC1):c.2680C>T (p.His894Tyr) rs1845148693
NM_000368.5(TSC1):c.2681A>G (p.His894Arg) rs1588290830
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.2700G>C (p.Gln900His) rs560986491
NM_000368.5(TSC1):c.2704C>A (p.Leu902Ile)
NM_000368.5(TSC1):c.2707G>C (p.Asp903His)
NM_000368.5(TSC1):c.2710A>G (p.Thr904Ala) rs1554813482
NM_000368.5(TSC1):c.2713T>A (p.Ser905Thr)
NM_000368.5(TSC1):c.2717A>C (p.Gln906Pro)
NM_000368.5(TSC1):c.2725A>G (p.Ile909Val)
NM_000368.5(TSC1):c.272C>T (p.Ser91Leu) rs118203361
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro) rs397514873
NM_000368.5(TSC1):c.2763C>A (p.His921Gln)
NM_000368.5(TSC1):c.2773G>A (p.Glu925Lys)
NM_000368.5(TSC1):c.2778G>C (p.Gln926His) rs1554813423
NM_000368.5(TSC1):c.2791G>C (p.Glu931Gln) rs1845137395
NM_000368.5(TSC1):c.2794G>A (p.Asp932Asn) rs2131630999
NM_000368.5(TSC1):c.2796T>G (p.Asp932Glu) rs766871150
NM_000368.5(TSC1):c.27G>C (p.Glu9Asp)
NM_000368.5(TSC1):c.2804T>G (p.Leu935Arg) rs2131630651
NM_000368.5(TSC1):c.2807A>G (p.Gln936Arg) rs2131630505
NM_000368.5(TSC1):c.2813+5C>T rs1060503223
NM_000368.5(TSC1):c.2813G>A (p.Arg938Lys) rs1249697208
NM_000368.5(TSC1):c.2815G>A (p.Gly939Arg) rs1564471685
NM_000368.5(TSC1):c.2816G>T (p.Gly939Val) rs1350545510
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser) rs751362258
NM_000368.5(TSC1):c.2836A>G (p.Ser946Gly) rs1060503225
NM_000368.5(TSC1):c.2837G>A (p.Ser946Asn) rs1845130264
NM_000368.5(TSC1):c.2838C>A (p.Ser946Arg)
NM_000368.5(TSC1):c.2839A>G (p.Arg947Gly) rs1845130132
NM_000368.5(TSC1):c.2840G>A (p.Arg947Lys)
NM_000368.5(TSC1):c.2843A>G (p.Tyr948Cys) rs989183765
NM_000368.5(TSC1):c.2849C>T (p.Ala950Val)
NM_000368.5(TSC1):c.284A>G (p.His95Arg)
NM_000368.5(TSC1):c.2854A>G (p.Lys952Glu)
NM_000368.5(TSC1):c.2861T>A (p.Ile954Lys) rs1845129125
NM_000368.5(TSC1):c.2861T>C (p.Ile954Thr)
NM_000368.5(TSC1):c.2864C>A (p.Thr955Asn) rs1488726432
NM_000368.5(TSC1):c.2869G>A (p.Val957Met)
NM_000368.5(TSC1):c.286G>C (p.Val96Leu) rs987344953
NM_000368.5(TSC1):c.2873T>C (p.Phe958Ser)
NM_000368.5(TSC1):c.2884A>C (p.Ile962Leu) rs1227198324
NM_000368.5(TSC1):c.2884A>G (p.Ile962Val) rs1227198324
NM_000368.5(TSC1):c.2887T>G (p.Leu963Val)
NM_000368.5(TSC1):c.289A>T (p.Ile97Leu) rs138541569
NM_000368.5(TSC1):c.2905T>G (p.Leu969Val)
NM_000368.5(TSC1):c.2909A>G (p.Glu970Gly) rs1372477238
NM_000368.5(TSC1):c.291A>G (p.Ile97Met) rs1588355427
NM_000368.5(TSC1):c.2920C>T (p.Leu974Phe)
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu) rs796053448
NM_000368.5(TSC1):c.2927A>G (p.Lys976Arg)
NM_000368.5(TSC1):c.2928A>C (p.Lys976Asn)
NM_000368.5(TSC1):c.292A>G (p.Arg98Gly) rs2132233857
NM_000368.5(TSC1):c.2930A>C (p.Lys977Thr)
NM_000368.5(TSC1):c.2932C>A (p.Leu978Ile) rs397514859
NM_000368.5(TSC1):c.2933T>A (p.Leu978His) rs770834438
NM_000368.5(TSC1):c.2935G>A (p.Glu979Lys) rs1845118974
NM_000368.5(TSC1):c.2938G>A (p.Glu980Lys) rs876658600
NM_000368.5(TSC1):c.293G>T (p.Arg98Ile)
NM_000368.5(TSC1):c.2956G>A (p.Ala986Thr)
NM_000368.5(TSC1):c.2963C>T (p.Ala988Val) rs1239372124
NM_000368.5(TSC1):c.296T>C (p.Leu99Pro)
NM_000368.5(TSC1):c.2975+1G>A
NM_000368.5(TSC1):c.2975+4G>C rs1057521710
NM_000368.5(TSC1):c.2976-13G>A
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr) rs144314195
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly) rs1554813029
NM_000368.5(TSC1):c.2990A>G (p.Asn997Ser)
NM_000368.5(TSC1):c.2991T>G (p.Asn997Lys)
NM_000368.5(TSC1):c.2992G>A (p.Asp998Asn)
NM_000368.5(TSC1):c.2995G>C (p.Gly999Arg) rs780224196
NM_000368.5(TSC1):c.2996G>T (p.Gly999Val) rs1845089126
NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp) rs552217429
NM_000368.5(TSC1):c.3002C>T (p.Ser1001Leu)
NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe) rs1554812991
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.3022A>C (p.Asn1008His)
NM_000368.5(TSC1):c.3034T>A (p.Ser1012Thr)
NM_000368.5(TSC1):c.3041A>G (p.His1014Arg) rs2131613922
NM_000368.5(TSC1):c.3049G>A (p.Glu1017Lys) rs1554812930
NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu) rs1317622700
NM_000368.5(TSC1):c.3056A>G (p.Lys1019Arg) rs2131612809
NM_000368.5(TSC1):c.3059C>T (p.Thr1020Ile) rs1060503214
NM_000368.5(TSC1):c.305C>A (p.Ser102Tyr)
NM_000368.5(TSC1):c.3064A>G (p.Arg1022Gly)
NM_000368.5(TSC1):c.3065G>C (p.Arg1022Thr)
NM_000368.5(TSC1):c.3066del (p.Arg1022fs)
NM_000368.5(TSC1):c.3067C>T (p.Pro1023Ser) rs138445573
NM_000368.5(TSC1):c.3068C>T (p.Pro1023Leu) rs1554812917
NM_000368.5(TSC1):c.3070A>T (p.Ser1024Cys)
NM_000368.5(TSC1):c.3073A>T (p.Ser1025Cys)
NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn) rs1845081620
NM_000368.5(TSC1):c.3074G>T (p.Ser1025Ile)
NM_000368.5(TSC1):c.3076G>T (p.Ala1026Ser) rs533565295
NM_000368.5(TSC1):c.3076_3077delinsTT (p.Ala1026Phe) rs1588287842
NM_000368.5(TSC1):c.3079C>G (p.Arg1027Gly)
NM_000368.5(TSC1):c.3083G>A (p.Gly1028Asp) rs1845080410
NM_000368.5(TSC1):c.3084_3086del (p.Ser1030del) rs1588287797
NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn) rs796053450
NM_000368.5(TSC1):c.3099A>C (p.Arg1033Ser) rs1015742388
NM_000368.5(TSC1):c.3104G>A (p.Gly1035Asp) rs1176815392
NM_000368.5(TSC1):c.3106G>A (p.Gly1036Arg) rs1588287655
NM_000368.5(TSC1):c.3106_3107delinsAA (p.Gly1036Lys) rs2131609182
NM_000368.5(TSC1):c.3107G>T (p.Gly1036Val)
NM_000368.5(TSC1):c.3109G>A (p.Gly1037Ser)
NM_000368.5(TSC1):c.3113G>A (p.Ser1038Asn) rs1060503196
NM_000368.5(TSC1):c.3115A>C (p.Ser1039Arg) rs1490199228
NM_000368.5(TSC1):c.3124A>G (p.Ser1042Gly) rs1845075552
NM_000368.5(TSC1):c.3127A>G (p.Ser1043Gly) rs1554812848
NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe) rs747162992
NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu) rs1203864892
NM_000368.5(TSC1):c.3147G>C (p.Glu1049Asp) rs397514831
NM_000368.5(TSC1):c.3152C>A (p.Pro1051His) rs1588287285
NM_000368.5(TSC1):c.3152C>G (p.Pro1051Arg)
NM_000368.5(TSC1):c.3154C>T (p.Pro1052Ser)
NM_000368.5(TSC1):c.3155C>G (p.Pro1052Arg)
NM_000368.5(TSC1):c.3155C>T (p.Pro1052Leu)
NM_000368.5(TSC1):c.3157C>G (p.His1053Asp)
NM_000368.5(TSC1):c.3164G>T (p.Arg1055Met) rs1167652701
NM_000368.5(TSC1):c.3173C>T (p.Pro1058Leu)
NM_000368.5(TSC1):c.3181A>C (p.Ser1061Arg) rs1203493016
NM_000368.5(TSC1):c.3191A>T (p.Glu1064Val)
NM_000368.5(TSC1):c.3196A>C (p.Thr1066Pro)
NM_000368.5(TSC1):c.3197C>T (p.Thr1066Ile)
NM_000368.5(TSC1):c.319C>G (p.Leu107Val)
NM_000368.5(TSC1):c.3205G>A (p.Glu1069Lys) rs1845061706
NM_000368.5(TSC1):c.3207A>C (p.Glu1069Asp)
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val) rs1060503200
NM_000368.5(TSC1):c.3212C>T (p.Ser1071Phe) rs2131601255
NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val) rs779369226
NM_000368.5(TSC1):c.3217A>G (p.Ser1073Gly) rs1845059319
NM_000368.5(TSC1):c.3222C>G (p.Ile1074Met)
NM_000368.5(TSC1):c.3230C>G (p.Thr1077Ser)
NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala) rs1060503191
NM_000368.5(TSC1):c.3245C>T (p.Pro1082Leu) rs767439431
NM_000368.5(TSC1):c.3248G>T (p.Ser1083Ile)
NM_000368.5(TSC1):c.3256A>C (p.Ser1086Arg)
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg) rs1845053380
NM_000368.5(TSC1):c.325C>A (p.Gln109Lys)
NM_000368.5(TSC1):c.3263T>G (p.Leu1088Arg) rs1845053005
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser) rs747053008
NM_000368.5(TSC1):c.3275C>G (p.Ala1092Gly) rs1845051123
NM_000368.5(TSC1):c.3277C>G (p.Arg1093Gly)
NM_000368.5(TSC1):c.3277C>T (p.Arg1093Ter) rs1431256375
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
NM_000368.5(TSC1):c.3281A>G (p.Glu1094Gly) rs1588286774
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.3301G>A (p.Glu1101Lys) rs1554812661
NM_000368.5(TSC1):c.3303G>C (p.Glu1101Asp) rs118203751
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn) rs1263464680
NM_000368.5(TSC1):c.3309G>C (p.Gln1103His) rs1474184918
NM_000368.5(TSC1):c.3311G>T (p.Cys1104Phe) rs796053467
NM_000368.5(TSC1):c.3319G>A (p.Asp1107Asn) rs1060503226
NM_000368.5(TSC1):c.3322G>T (p.Gly1108Cys) rs118203753
NM_000368.5(TSC1):c.3326T>C (p.Met1109Thr)
NM_000368.5(TSC1):c.3329C>A (p.Thr1110Asn)
NM_000368.5(TSC1):c.3332G>A (p.Ser1111Asn) rs1554812642
NM_000368.5(TSC1):c.3333del (p.Ser1111fs)
NM_000368.5(TSC1):c.3349C>G (p.Leu1117Val)
NM_000368.5(TSC1):c.334C>T (p.Leu112Phe) rs1554820276
NM_000368.5(TSC1):c.3375_3376delinsTT (p.Leu1125_Gly1126delinsPheCys)
NM_000368.5(TSC1):c.3379G>T (p.Val1127Leu) rs1845037495
NM_000368.5(TSC1):c.3387dup (p.Lys1130fs) rs1588286388
NM_000368.5(TSC1):c.3389A>G (p.Lys1130Arg) rs1588286359
NM_000368.5(TSC1):c.3395C>T (p.Pro1132Leu) rs1564469655
NM_000368.5(TSC1):c.3406G>C (p.Asp1136His)
NM_000368.5(TSC1):c.3407A>G (p.Asp1136Gly) rs1588286218
NM_000368.5(TSC1):c.3412C>T (p.Pro1138Ser) rs2131589157
NM_000368.5(TSC1):c.3413C>A (p.Pro1138His) rs756449737
NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr) rs1845031012
NM_000368.5(TSC1):c.3417C>A (p.His1139Gln) rs756737864
NM_000368.5(TSC1):c.3422C>G (p.Ser1141Cys) rs1344689860
NM_000368.5(TSC1):c.3424C>A (p.Pro1142Thr)
NM_000368.5(TSC1):c.3424C>G (p.Pro1142Ala) rs1060503227
NM_000368.5(TSC1):c.3443T>C (p.Val1148Ala)
NM_000368.5(TSC1):c.344C>A (p.Ser115Tyr)
NM_000368.5(TSC1):c.3467A>G (p.Tyr1156Cys)
NM_000368.5(TSC1):c.3470A>G (p.Asn1157Ser) rs1845023976
NM_000368.5(TSC1):c.347T>C (p.Leu116Ser) rs2132230247
NM_000368.5(TSC1):c.3481C>G (p.His1161Asp)
NM_000368.5(TSC1):c.3482A>G (p.His1161Arg) rs1564469371
NM_000368.5(TSC1):c.3485A>G (p.Glu1162Gly)
NM_000368.5(TSC1):c.3491G>A (p.Ser1164Asn) rs2131585043
NM_000368.5(TSC1):c.356G>A (p.Cys119Tyr) rs1554820265
NM_000368.5(TSC1):c.356G>T (p.Cys119Phe) rs1554820265
NM_000368.5(TSC1):c.361A>C (p.Lys121Gln) rs1846807332
NM_000368.5(TSC1):c.364-3C>A
NM_000368.5(TSC1):c.367G>A (p.Asp123Asn)
NM_000368.5(TSC1):c.368A>C (p.Asp123Ala) rs1588351019
NM_000368.5(TSC1):c.373G>A (p.Asp125Asn)
NM_000368.5(TSC1):c.377T>C (p.Val126Ala)
NM_000368.5(TSC1):c.37A>C (p.Met13Leu)
NM_000368.5(TSC1):c.389C>A (p.Thr130Lys)
NM_000368.5(TSC1):c.391A>C (p.Thr131Pro)
NM_000368.5(TSC1):c.391A>G (p.Thr131Ala) rs1564499857
NM_000368.5(TSC1):c.394G>A (p.Gly132Ser)
NM_000368.5(TSC1):c.403G>A (p.Val135Met) rs1588350708
NM_000368.5(TSC1):c.413C>T (p.Thr138Ile) rs1163879822
NM_000368.5(TSC1):c.416T>A (p.Met139Lys)
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.435G>T (p.Gln145His) rs1195580419
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.448C>A (p.His150Asn)
NM_000368.5(TSC1):c.454C>T (p.Leu152Phe)
NM_000368.5(TSC1):c.455T>C (p.Leu152Pro)
NM_000368.5(TSC1):c.457G>T (p.Asp153Tyr)
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.478C>T (p.Arg160Cys) rs1554819886
NM_000368.5(TSC1):c.47C>T (p.Ser16Phe) rs774900322
NM_000368.5(TSC1):c.485CAT[1] (p.Ser163del) rs1588350366
NM_000368.5(TSC1):c.491G>T (p.Trp164Leu) rs118203387
NM_000368.5(TSC1):c.492G>T (p.Trp164Cys) rs1554819870
NM_000368.5(TSC1):c.509-4C>G rs2132162807
NM_000368.5(TSC1):c.509-5T>G rs1846593189
NM_000368.5(TSC1):c.512A>C (p.His171Pro)
NM_000368.5(TSC1):c.514G>C (p.Val172Leu) rs952813051
NM_000368.5(TSC1):c.515T>A (p.Val172Glu) rs751092692
NM_000368.5(TSC1):c.518C>A (p.Ala173Glu)
NM_000368.5(TSC1):c.523G>T (p.Val175Phe) rs1564498330
NM_000368.5(TSC1):c.529C>T (p.Leu177Phe) rs2132160788
NM_000368.5(TSC1):c.541C>T (p.His181Tyr) rs1057524690
NM_000368.5(TSC1):c.542A>G (p.His181Arg) rs397515294
NM_000368.5(TSC1):c.548G>C (p.Ser183Thr) rs1554819580
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.556G>C (p.Ala186Pro)
NM_000368.5(TSC1):c.556G>T (p.Ala186Ser) rs1279777367
NM_000368.5(TSC1):c.562T>C (p.Phe188Leu)
NM_000368.5(TSC1):c.567T>A (p.His189Gln)
NM_000368.5(TSC1):c.574T>C (p.Tyr192His) rs786202831
NM_000368.5(TSC1):c.599T>C (p.Val200Ala)
NM_000368.5(TSC1):c.5C>T (p.Ala2Val) rs1588363746
NM_000368.5(TSC1):c.611G>A (p.Arg204His) rs397514834
NM_000368.5(TSC1):c.623G>A (p.Ser208Asn)
NM_000368.5(TSC1):c.623G>C (p.Ser208Thr) rs1264782606
NM_000368.5(TSC1):c.648T>G (p.Phe216Leu)
NM_000368.5(TSC1):c.663G>A (p.Lys221=) rs868715706
NM_000368.5(TSC1):c.664C>A (p.Pro222Thr)
NM_000368.5(TSC1):c.667A>G (p.Met223Val) rs2132138226
NM_000368.5(TSC1):c.674A>C (p.Glu225Ala)
NM_000368.5(TSC1):c.677A>G (p.His226Arg)
NM_000368.5(TSC1):c.683G>A (p.Arg228Gln) rs1223799508
NM_000368.5(TSC1):c.689A>G (p.His230Arg) rs1588345775
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu) rs1322586198
NM_000368.5(TSC1):c.707G>C (p.Gly236Ala)
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_000368.5(TSC1):c.746G>T (p.Arg249Ile) rs1588327781
NM_000368.5(TSC1):c.758A>C (p.His253Pro)
NM_000368.5(TSC1):c.761A>T (p.Asp254Val)
NM_000368.5(TSC1):c.771C>G (p.Ile257Met) rs1060504854
NM_000368.5(TSC1):c.779C>T (p.Ala260Val) rs758617649
NM_000368.5(TSC1):c.782A>C (p.Lys261Thr) rs371225009
NM_000368.5(TSC1):c.79G>A (p.Ala27Thr)
NM_000368.5(TSC1):c.806C>A (p.Ala269Asp) rs1347033062
NM_000368.5(TSC1):c.812A>G (p.Tyr271Cys)
NM_000368.5(TSC1):c.818A>T (p.Asp273Val)
NM_000368.5(TSC1):c.820G>A (p.Gly274Ser) rs1389310342
NM_000368.5(TSC1):c.824A>G (p.Tyr275Cys) rs1554817636
NM_000368.5(TSC1):c.827C>T (p.Ser276Phe) rs1846012269
NM_000368.5(TSC1):c.829G>A (p.Val277Met)
NM_000368.5(TSC1):c.840A>C (p.Gln280His) rs1171852730
NM_000368.5(TSC1):c.840A>T (p.Gln280His)
NM_000368.5(TSC1):c.856C>G (p.Pro286Ala) rs1047485135
NM_000368.5(TSC1):c.856C>T (p.Pro286Ser) rs1047485135
NM_000368.5(TSC1):c.860A>G (p.His287Arg)
NM_000368.5(TSC1):c.874G>A (p.Val292Ile) rs1588326825
NM_000368.5(TSC1):c.875T>C (p.Val292Ala)
NM_000368.5(TSC1):c.878C>G (p.Thr293Ser) rs756681916
NM_000368.5(TSC1):c.878C>T (p.Thr293Ile) rs756681916
NM_000368.5(TSC1):c.881C>A (p.Thr294Asn) rs878853969
NM_000368.5(TSC1):c.881C>T (p.Thr294Ile) rs878853969
NM_000368.5(TSC1):c.883A>G (p.Ser295Gly) rs1588326679
NM_000368.5(TSC1):c.886C>T (p.Pro296Ser) rs750890263
NM_000368.5(TSC1):c.890A>C (p.Tyr297Ser)
NM_000368.5(TSC1):c.892G>A (p.Ala298Thr) rs1846004547
NM_000368.5(TSC1):c.893C>G (p.Ala298Gly)
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala) rs796053456
NM_000368.5(TSC1):c.899C>A (p.Thr300Lys)
NM_000368.5(TSC1):c.8A>G (p.Gln3Arg)
NM_000368.5(TSC1):c.901C>G (p.Gln301Glu)
NM_000368.5(TSC1):c.902A>G (p.Gln301Arg) rs1389512342
NM_000368.5(TSC1):c.902A>T (p.Gln301Leu)
NM_000368.5(TSC1):c.903G>T (p.Gln301His)
NM_000368.5(TSC1):c.914-4T>G rs2131982922
NM_000368.5(TSC1):c.916T>C (p.Cys306Arg) rs34876281
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.931C>G (p.Pro311Ala) rs1332186256
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe) rs766317920
NM_000368.5(TSC1):c.93G>T (p.Glu31Asp) rs781059342
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000368.5(TSC1):c.95A>G (p.Asn32Ser) rs1222555421
NM_000368.5(TSC1):c.968C>T (p.Pro323Leu) rs1588324535
NM_000368.5(TSC1):c.96C>A (p.Asn32Lys) rs1588363242
NM_000368.5(TSC1):c.975G>T (p.Gln325His) rs1554817398
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe) rs1847031671

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