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)
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|
|
NM_000368.5(TSC1):c.903G>T (p.Gln301His)
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|
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
|
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NM_000368.5(TSC1):c.975G>T (p.Gln325His)
|
rs1554817398
|
|
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe)
|
rs1847031671
|
|