NM_000368.5(TSC1):c.2626-3C>T
|
rs1060503192
|
0.00608
|
NM_000368.5(TSC1):c.348A>C (p.Leu116Phe)
|
rs755799702
|
0.00003
|
NM_000368.5(TSC1):c.2776C>G (p.Gln926Glu)
|
rs397514879
|
0.00002
|
NM_000368.5(TSC1):c.47C>G (p.Ser16Cys)
|
rs774900322
|
0.00002
|
NM_000368.5(TSC1):c.1000T>A (p.Ser334Thr)
|
rs1845955815
|
0.00001
|
NM_000368.5(TSC1):c.1016C>T (p.Thr339Ile)
|
rs1246013552
|
0.00001
|
NM_000368.5(TSC1):c.1045C>G (p.Pro349Ala)
|
rs779767990
|
0.00001
|
NM_000368.5(TSC1):c.1091A>T (p.Asn364Ile)
|
rs876658981
|
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.1130T>G (p.Phe377Cys)
|
rs1187617751
|
0.00001
|
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser)
|
rs1064796512
|
0.00001
|
NM_000368.5(TSC1):c.1144G>A (p.Gly382Ser)
|
rs367564729
|
0.00001
|
NM_000368.5(TSC1):c.115C>T (p.Pro39Ser)
|
rs1588359851
|
0.00001
|
NM_000368.5(TSC1):c.118A>G (p.Met40Val)
|
rs974227401
|
0.00001
|
NM_000368.5(TSC1):c.1193C>T (p.Ala398Val)
|
rs918660416
|
0.00001
|
NM_000368.5(TSC1):c.1237C>G (p.Gln413Glu)
|
rs1588321339
|
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.1277_1279del (p.Asp426_Ser427delinsAla)
|
rs1203057835
|
0.00001
|
NM_000368.5(TSC1):c.1283C>T (p.Ala428Val)
|
rs1554816420
|
0.00001
|
NM_000368.5(TSC1):c.1429_1431del (p.Lys477del)
|
rs796053469
|
0.00001
|
NM_000368.5(TSC1):c.1561T>C (p.Ser521Pro)
|
rs1194627656
|
0.00001
|
NM_000368.5(TSC1):c.1564G>C (p.Ala522Pro)
|
rs1461138345
|
0.00001
|
NM_000368.5(TSC1):c.1602G>T (p.Glu534Asp)
|
rs1419023919
|
0.00001
|
NM_000368.5(TSC1):c.1627C>T (p.Leu543Phe)
|
rs1845641287
|
0.00001
|
NM_000368.5(TSC1):c.1643C>T (p.Pro548Leu)
|
rs1588310178
|
0.00001
|
NM_000368.5(TSC1):c.1754C>T (p.Pro585Leu)
|
rs1845627444
|
0.00001
|
NM_000368.5(TSC1):c.1780G>A (p.Val594Met)
|
rs1845623814
|
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.1849C>T (p.His617Tyr)
|
rs397514854
|
0.00001
|
NM_000368.5(TSC1):c.1997+4A>G
|
rs1404828446
|
0.00001
|
NM_000368.5(TSC1):c.2032C>T (p.His678Tyr)
|
rs755647717
|
0.00001
|
NM_000368.5(TSC1):c.2044T>C (p.Ser682Pro)
|
rs1588304748
|
0.00001
|
NM_000368.5(TSC1):c.2144G>A (p.Arg715Gln)
|
rs986350787
|
0.00001
|
NM_000368.5(TSC1):c.2298G>C (p.Glu766Asp)
|
rs1403227945
|
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.2519C>T (p.Ser840Leu)
|
rs1564475110
|
0.00001
|
NM_000368.5(TSC1):c.2585A>G (p.Tyr862Cys)
|
rs1060503221
|
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.2880G>A (p.Leu960=)
|
rs1845126730
|
0.00001
|
NM_000368.5(TSC1):c.2885T>G (p.Ile962Ser)
|
rs1438535722
|
0.00001
|
NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys)
|
rs762213436
|
0.00001
|
NM_000368.5(TSC1):c.2976-2A>G
|
rs1588288463
|
0.00001
|
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg)
|
rs780224196
|
0.00001
|
NM_000368.5(TSC1):c.3010A>G (p.Met1004Val)
|
rs371879917
|
0.00001
|
NM_000368.5(TSC1):c.3011T>C (p.Met1004Thr)
|
rs757370776
|
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.3151C>T (p.Pro1051Ser)
|
rs1210523479
|
0.00001
|
NM_000368.5(TSC1):c.3169G>A (p.Gly1057Ser)
|
rs587778727
|
0.00001
|
NM_000368.5(TSC1):c.3248G>A (p.Ser1083Asn)
|
rs1845055163
|
0.00001
|
NM_000368.5(TSC1):c.3274G>A (p.Ala1092Thr)
|
rs747053008
|
0.00001
|
NM_000368.5(TSC1):c.3390G>C (p.Lys1130Asn)
|
rs1845035929
|
0.00001
|
NM_000368.5(TSC1):c.3424C>T (p.Pro1142Ser)
|
rs1060503227
|
0.00001
|
NM_000368.5(TSC1):c.3425C>T (p.Pro1142Leu)
|
rs1207133391
|
0.00001
|
NM_000368.5(TSC1):c.3478C>T (p.His1160Tyr)
|
rs1470270925
|
0.00001
|
NM_000368.5(TSC1):c.364A>G (p.Met122Val)
|
rs1846685026
|
0.00001
|
NM_000368.5(TSC1):c.380T>C (p.Val127Ala)
|
rs1444696723
|
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.61G>T (p.Val21Leu)
|
rs1392596033
|
0.00001
|
NM_000368.5(TSC1):c.730C>A (p.Pro244Thr)
|
rs1846543788
|
0.00001
|
NM_000368.5(TSC1):c.818A>G (p.Asp273Gly)
|
rs768057796
|
0.00001
|
NM_000368.5(TSC1):c.880A>G (p.Thr294Ala)
|
rs1588326742
|
0.00001
|
NM_000368.5(TSC1):c.913+5A>G
|
rs1468819254
|
0.00001
|
NC_000009.11:g.(?_135771612)_(135778184_?)dup
|
|
|
NC_000009.11:g.(?_135771622)_(135801136_?)dup
|
|
|
NC_000009.11:g.(?_135771622)_(135804259_?)dup
|
|
|
NC_000009.11:g.(?_135771622)_(135810482_?)dup
|
|
|
NC_000009.11:g.(?_135796740)_(135820530_?)dup
|
|
|
NC_000009.11:g.(?_135797196)_(135820530_?)dup
|
|
|
NC_000009.11:g.(?_135798715)_(135804279_?)dup
|
|
|
NC_000009.11:g.(?_135804148)_(135804265_?)dup
|
|
|
NC_000009.11:g.(?_135810420)_(135820530_?)dup
|
|
|
NC_000009.11:g.(?_135819930)_(135820530_?)dup
|
|
|
NC_000009.11:g.(?_135820391)_(135821434_?)del
|
|
|
NC_000009.12:g.(?_132896235)_(132945143_?)dup
|
|
|
NC_000009.12:g.132944862_132944882dup
|
|
|
NM_000368.5(TSC1):c.1001C>G (p.Ser334Trp)
|
rs118203481
|
|
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile)
|
rs1845955010
|
|
NM_000368.5(TSC1):c.1012A>G (p.Ile338Val)
|
rs2131974315
|
|
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.1025C>T (p.Pro342Leu)
|
rs1060503197
|
|
NM_000368.5(TSC1):c.1028A>T (p.Gln343Leu)
|
|
|
NM_000368.5(TSC1):c.1029+3A>G
|
rs1554817334
|
|
NM_000368.5(TSC1):c.1029+4T>C
|
rs772962741
|
|
NM_000368.5(TSC1):c.1029+5G>A
|
rs1845952054
|
|
NM_000368.5(TSC1):c.1029+5G>T
|
|
|
NM_000368.5(TSC1):c.1029+6G>T
|
rs1845951912
|
|
NM_000368.5(TSC1):c.1029A>G (p.Gln343=)
|
|
|
NM_000368.5(TSC1):c.1030-12T>C
|
|
|
NM_000368.5(TSC1):c.1030-14T>C
|
|
|
NM_000368.5(TSC1):c.1030-3C>G
|
rs118203488
|
|
NM_000368.5(TSC1):c.1030-3C>T
|
rs118203488
|
|
NM_000368.5(TSC1):c.1030-5C>G
|
rs1588323218
|
|
NM_000368.5(TSC1):c.1030-6T>A
|
rs1418175406
|
|
NM_000368.5(TSC1):c.1030-7T>C
|
|
|
NM_000368.5(TSC1):c.1030-9A>G
|
rs118203487
|
|
NM_000368.5(TSC1):c.1030G>C (p.Ala344Pro)
|
rs1845934367
|
|
NM_000368.5(TSC1):c.1030G>T (p.Ala344Ser)
|
rs1845934367
|
|
NM_000368.5(TSC1):c.1031C>G (p.Ala344Gly)
|
rs2131965142
|
|
NM_000368.5(TSC1):c.1034C>T (p.Thr345Ile)
|
rs1845934094
|
|
NM_000368.5(TSC1):c.1039T>A (p.Trp347Arg)
|
rs1175861603
|
|
NM_000368.5(TSC1):c.1039T>C (p.Trp347Arg)
|
rs1175861603
|
|
NM_000368.5(TSC1):c.1039T>G (p.Trp347Gly)
|
rs1175861603
|
|
NM_000368.5(TSC1):c.1041G>C (p.Trp347Cys)
|
rs118203491
|
|
NM_000368.5(TSC1):c.1043G>T (p.Ser348Ile)
|
|
|
NM_000368.5(TSC1):c.1044C>A (p.Ser348Arg)
|
|
|
NM_000368.5(TSC1):c.1045C>T (p.Pro349Ser)
|
rs779767990
|
|
NM_000368.5(TSC1):c.1046C>A (p.Pro349Gln)
|
rs1554817268
|
|
NM_000368.5(TSC1):c.1052T>C (p.Met351Thr)
|
|
|
NM_000368.5(TSC1):c.1054G>C (p.Val352Leu)
|
|
|
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr)
|
rs876660024
|
|
NM_000368.5(TSC1):c.1058G>C (p.Cys353Ser)
|
rs876660024
|
|
NM_000368.5(TSC1):c.105T>C (p.Ser35=)
|
rs1588363213
|
|
NM_000368.5(TSC1):c.106+10A>G
|
rs2132293220
|
|
NM_000368.5(TSC1):c.106+13_106+15del
|
|
|
NM_000368.5(TSC1):c.106+16T>C
|
|
|
NM_000368.5(TSC1):c.106+3T>C
|
rs1847030488
|
|
NM_000368.5(TSC1):c.106+5G>A
|
rs1554820973
|
|
NM_000368.5(TSC1):c.106+6C>T
|
rs746774454
|
|
NM_000368.5(TSC1):c.1063A>G (p.Met355Val)
|
rs1302832406
|
|
NM_000368.5(TSC1):c.1065G>A (p.Met355Ile)
|
rs878853958
|
|
NM_000368.5(TSC1):c.1065G>T (p.Met355Ile)
|
|
|
NM_000368.5(TSC1):c.1067C>A (p.Thr356Asn)
|
rs1845931432
|
|
NM_000368.5(TSC1):c.106G>C (p.Asp36His)
|
rs1847030850
|
|
NM_000368.5(TSC1):c.1072C>T (p.Pro358Ser)
|
|
|
NM_000368.5(TSC1):c.1073C>T (p.Pro358Leu)
|
rs2131961651
|
|
NM_000368.5(TSC1):c.1078A>T (p.Thr360Ser)
|
rs201738258
|
|
NM_000368.5(TSC1):c.1079C>G (p.Thr360Ser)
|
rs118203493
|
|
NM_000368.5(TSC1):c.107A>C (p.Asp36Ala)
|
|
|
NM_000368.5(TSC1):c.107A>G (p.Asp36Gly)
|
rs148468036
|
|
NM_000368.5(TSC1):c.107A>T (p.Asp36Val)
|
rs148468036
|
|
NM_000368.5(TSC1):c.1082C>G (p.Ser361Cys)
|
|
|
NM_000368.5(TSC1):c.1084_1086del (p.Pro362del)
|
rs1554817252
|
|
NM_000368.5(TSC1):c.1085C>T (p.Pro362Leu)
|
rs2131960830
|
|
NM_000368.5(TSC1):c.1088G>A (p.Gly363Glu)
|
rs2131960613
|
|
NM_000368.5(TSC1):c.1094T>C (p.Val365Ala)
|
rs2131960121
|
|
NM_000368.5(TSC1):c.1096C>A (p.Pro366Thr)
|
|
|
NM_000368.5(TSC1):c.1096C>T (p.Pro366Ser)
|
rs1041988929
|
|
NM_000368.5(TSC1):c.1102G>A (p.Asp368Asn)
|
|
|
NM_000368.5(TSC1):c.1102G>C (p.Asp368His)
|
rs2131959427
|
|
NM_000368.5(TSC1):c.1105C>G (p.Leu369Val)
|
rs118203496
|
|
NM_000368.5(TSC1):c.1109C>T (p.Ser370Leu)
|
rs796053457
|
|
NM_000368.5(TSC1):c.1120A>G (p.Ser374Gly)
|
rs2131957774
|
|
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.1125A>T (p.Lys375Asn)
|
rs2131957415
|
|
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.1136C>T (p.Thr379Ile)
|
rs1060503193
|
|
NM_000368.5(TSC1):c.1138A>G (p.Thr380Ala)
|
rs1060503216
|
|
NM_000368.5(TSC1):c.1139C>T (p.Thr380Ile)
|
rs1064796512
|
|
NM_000368.5(TSC1):c.113_114delinsAT (p.Gly38Asp)
|
|
|
NM_000368.5(TSC1):c.1141+4T>C
|
|
|
NM_000368.5(TSC1):c.1141+5G>A
|
rs1845924784
|
|
NM_000368.5(TSC1):c.1141+7A>C
|
|
|
NM_000368.5(TSC1):c.1142-10T>C
|
|
|
NM_000368.5(TSC1):c.1142C>G (p.Ala381Gly)
|
|
|
NM_000368.5(TSC1):c.1145G>A (p.Gly382Asp)
|
rs1460150475
|
|
NM_000368.5(TSC1):c.1148G>A (p.Gly383Glu)
|
rs1554817166
|
|
NM_000368.5(TSC1):c.1151A>G (p.Lys384Arg)
|
rs1845907002
|
|
NM_000368.5(TSC1):c.1153G>A (p.Gly385Arg)
|
rs2131947237
|
|
NM_000368.5(TSC1):c.1156A>C (p.Thr386Pro)
|
|
|
NM_000368.5(TSC1):c.1157C>A (p.Thr386Asn)
|
rs1845906487
|
|
NM_000368.5(TSC1):c.1159C>T (p.Pro387Ser)
|
|
|
NM_000368.5(TSC1):c.115C>G (p.Pro39Ala)
|
rs1588359851
|
|
NM_000368.5(TSC1):c.1165G>A (p.Gly389Arg)
|
|
|
NM_000368.5(TSC1):c.116C>T (p.Pro39Leu)
|
|
|
NM_000368.5(TSC1):c.1177A>G (p.Thr393Ala)
|
|
|
NM_000368.5(TSC1):c.1177A>T (p.Thr393Ser)
|
rs1845904791
|
|
NM_000368.5(TSC1):c.1178C>A (p.Thr393Asn)
|
rs201452238
|
|
NM_000368.5(TSC1):c.1182TCC[6] (p.Pro395_Pro397dup)
|
rs1845904104
|
|
NM_000368.5(TSC1):c.1183C>G (p.Pro395Ala)
|
|
|
NM_000368.5(TSC1):c.1183C>T (p.Pro395Ser)
|
rs1845904525
|
|
NM_000368.5(TSC1):c.1184C>T (p.Pro395Leu)
|
rs1845904421
|
|
NM_000368.5(TSC1):c.1186C>A (p.Pro396Thr)
|
|
|
NM_000368.5(TSC1):c.1186C>T (p.Pro396Ser)
|
rs1845904238
|
|
NM_000368.5(TSC1):c.1189C>G (p.Pro397Ala)
|
|
|
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.1198C>G (p.Leu400Val)
|
|
|
NM_000368.5(TSC1):c.1198C>T (p.Leu400Phe)
|
rs773160913
|
|
NM_000368.5(TSC1):c.11A>C (p.Gln4Pro)
|
|
|
NM_000368.5(TSC1):c.1202G>A (p.Cys401Tyr)
|
rs2131942881
|
|
NM_000368.5(TSC1):c.1206T>A (p.His402Gln)
|
rs1845902050
|
|
NM_000368.5(TSC1):c.1207T>G (p.Ser403Ala)
|
rs1845901815
|
|
NM_000368.5(TSC1):c.120G>A (p.Met40Ile)
|
rs1480174819
|
|
NM_000368.5(TSC1):c.1210G>T (p.Asp404Tyr)
|
rs1845900843
|
|
NM_000368.5(TSC1):c.1211A>T (p.Asp404Val)
|
rs1554817130
|
|
NM_000368.5(TSC1):c.1215C>G (p.Asp405Glu)
|
rs2131941639
|
|
NM_000368.5(TSC1):c.1216T>C (p.Tyr406His)
|
rs1554817128
|
|
NM_000368.5(TSC1):c.1219G>T (p.Val407Leu)
|
rs769331772
|
|
NM_000368.5(TSC1):c.1223A>C (p.His408Pro)
|
rs1554817122
|
|
NM_000368.5(TSC1):c.1223A>G (p.His408Arg)
|
rs1554817122
|
|
NM_000368.5(TSC1):c.1225A>T (p.Ile409Phe)
|
|
|
NM_000368.5(TSC1):c.1226T>C (p.Ile409Thr)
|
rs1474143751
|
|
NM_000368.5(TSC1):c.1229C>T (p.Ser410Leu)
|
rs1564487289
|
|
NM_000368.5(TSC1):c.1231C>G (p.Leu411Val)
|
rs397514840
|
|
NM_000368.5(TSC1):c.1231C>T (p.Leu411Phe)
|
rs397514840
|
|
NM_000368.5(TSC1):c.1232T>C (p.Leu411Pro)
|
|
|
NM_000368.5(TSC1):c.1234C>A (p.Pro412Thr)
|
rs2131939930
|
|
NM_000368.5(TSC1):c.1234C>T (p.Pro412Ser)
|
|
|
NM_000368.5(TSC1):c.1235C>T (p.Pro412Leu)
|
rs1845897946
|
|
NM_000368.5(TSC1):c.1238A>C (p.Gln413Pro)
|
|
|
NM_000368.5(TSC1):c.1239G>C (p.Gln413His)
|
rs786203715
|
|
NM_000368.5(TSC1):c.123T>A (p.Leu41=)
|
rs1846926807
|
|
NM_000368.5(TSC1):c.1246G>T (p.Val416Phe)
|
|
|
NM_000368.5(TSC1):c.1247T>A (p.Val416Asp)
|
|
|
NM_000368.5(TSC1):c.1252C>A (p.Pro418Thr)
|
rs1845895299
|
|
NM_000368.5(TSC1):c.1252C>G (p.Pro418Ala)
|
rs1845895299
|
|
NM_000368.5(TSC1):c.1252C>T (p.Pro418Ser)
|
rs1845895299
|
|
NM_000368.5(TSC1):c.1253C>G (p.Pro418Arg)
|
rs997339959
|
|
NM_000368.5(TSC1):c.1253C>T (p.Pro418Leu)
|
|
|
NM_000368.5(TSC1):c.1255C>A (p.Pro419Thr)
|
|
|
NM_000368.5(TSC1):c.1255C>T (p.Pro419Ser)
|
rs765145057
|
|
NM_000368.5(TSC1):c.1256C>T (p.Pro419Leu)
|
rs878853959
|
|
NM_000368.5(TSC1):c.1258A>G (p.Arg420Gly)
|
rs1554817078
|
|
NM_000368.5(TSC1):c.1260G>A (p.Arg420=)
|
|
|
NM_000368.5(TSC1):c.1263+4C>T
|
rs1554817077
|
|
NM_000368.5(TSC1):c.1264-16A>G
|
rs2131883904
|
|
NM_000368.5(TSC1):c.1264-3C>A
|
rs1194717065
|
|
NM_000368.5(TSC1):c.1264-3C>T
|
rs1194717065
|
|
NM_000368.5(TSC1):c.1264-6T>A
|
rs370778877
|
|
NM_000368.5(TSC1):c.1264G>A (p.Glu422Lys)
|
rs1845729073
|
|
NM_000368.5(TSC1):c.1265A>G (p.Glu422Gly)
|
rs2131883216
|
|
NM_000368.5(TSC1):c.1267G>A (p.Glu423Lys)
|
|
|
NM_000368.5(TSC1):c.1271G>A (p.Arg424Lys)
|
|
|
NM_000368.5(TSC1):c.1274T>G (p.Met425Arg)
|
|
|
NM_000368.5(TSC1):c.1275G>A (p.Met425Ile)
|
rs2131882532
|
|
NM_000368.5(TSC1):c.1279T>G (p.Ser427Ala)
|
|
|
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu)
|
rs587778721
|
|
NM_000368.5(TSC1):c.1286G>C (p.Arg429Thr)
|
rs1845727586
|
|
NM_000368.5(TSC1):c.1288C>A (p.Pro430Thr)
|
|
|
NM_000368.5(TSC1):c.1289C>T (p.Pro430Leu)
|
rs1845727308
|
|
NM_000368.5(TSC1):c.1289_1290insGCGCGGACC (p.Pro430_Cys431insArgGlyPro)
|
rs1554816418
|
|
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg)
|
rs762688935
|
|
NM_000368.5(TSC1):c.1297C>A (p.His433Asn)
|
|
|
NM_000368.5(TSC1):c.1297C>T (p.His433Tyr)
|
|
|
NM_000368.5(TSC1):c.1298A>G (p.His433Arg)
|
rs1554816403
|
|
NM_000368.5(TSC1):c.1299C>G (p.His433Gln)
|
rs1275474831
|
|
NM_000368.5(TSC1):c.12A>T (p.Gln4His)
|
|
|
NM_000368.5(TSC1):c.1304A>G (p.Gln435Arg)
|
rs2131880323
|
|
NM_000368.5(TSC1):c.1305A>C (p.Gln435His)
|
rs1334781311
|
|
NM_000368.5(TSC1):c.1306C>T (p.His436Tyr)
|
rs1845725716
|
|
NM_000368.5(TSC1):c.1308C>A (p.His436Gln)
|
|
|
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.1311TCT[1] (p.Leu439del)
|
|
|
NM_000368.5(TSC1):c.1312C>T (p.Leu438Phe)
|
|
|
NM_000368.5(TSC1):c.1319A>G (p.Asn440Ser)
|
rs2131879422
|
|
NM_000368.5(TSC1):c.1324A>G (p.Arg442Gly)
|
rs1845724649
|
|
NM_000368.5(TSC1):c.1325G>A (p.Arg442Lys)
|
|
|
NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg)
|
rs760470520
|
|
NM_000368.5(TSC1):c.1330T>A (p.Ser444Thr)
|
|
|
NM_000368.5(TSC1):c.1333+6A>T
|
|
|
NM_000368.5(TSC1):c.1334-20T>G
|
|
|
NM_000368.5(TSC1):c.1334-3C>T
|
rs766782582
|
|
NM_000368.5(TSC1):c.1334A>G (p.Glu445Gly)
|
rs2131869266
|
|
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala)
|
rs1588313030
|
|
NM_000368.5(TSC1):c.133T>G (p.Leu45Val)
|
rs755226092
|
|
NM_000368.5(TSC1):c.1342C>A (p.Pro448Thr)
|
rs118203518
|
|
NM_000368.5(TSC1):c.1343C>T (p.Pro448Leu)
|
rs397514848
|
|
NM_000368.5(TSC1):c.1345G>A (p.Gly449Ser)
|
|
|
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser)
|
rs1554820662
|
|
NM_000368.5(TSC1):c.1351A>C (p.Lys451Gln)
|
|
|
NM_000368.5(TSC1):c.1355G>A (p.Gly452Asp)
|
rs371093730
|
|
NM_000368.5(TSC1):c.1358C>T (p.Ser453Phe)
|
rs1271797824
|
|
NM_000368.5(TSC1):c.1361T>C (p.Val454Ala)
|
rs2131867114
|
|
NM_000368.5(TSC1):c.1364C>G (p.Thr455Ser)
|
|
|
NM_000368.5(TSC1):c.1368A>C (p.Leu456=)
|
rs397514856
|
|
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.1374T>A (p.Asp458Glu)
|
rs2131865879
|
|
NM_000368.5(TSC1):c.1376T>A (p.Leu459His)
|
rs1554816231
|
|
NM_000368.5(TSC1):c.1381G>A (p.Gly461Arg)
|
|
|
NM_000368.5(TSC1):c.1390G>A (p.Gly464Ser)
|
|
|
NM_000368.5(TSC1):c.1391G>A (p.Gly464Asp)
|
rs1845696020
|
|
NM_000368.5(TSC1):c.13G>A (p.Ala5Thr)
|
rs2132297148
|
|
NM_000368.5(TSC1):c.1403C>G (p.Ser468Cys)
|
rs1845695519
|
|
NM_000368.5(TSC1):c.1403C>T (p.Ser468Phe)
|
rs1845695519
|
|
NM_000368.5(TSC1):c.1405G>A (p.Glu469Lys)
|
rs2131863649
|
|
NM_000368.5(TSC1):c.1407AGA[1] (p.Glu470del)
|
rs1564483296
|
|
NM_000368.5(TSC1):c.1412A>T (p.Asp471Val)
|
rs2131863099
|
|
NM_000368.5(TSC1):c.1414A>G (p.Ser472Gly)
|
|
|
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>G (p.Ile473Ser)
|
|
|
NM_000368.5(TSC1):c.141T>G (p.Asp47Glu)
|
|
|
NM_000368.5(TSC1):c.1420G>C (p.Glu474Gln)
|
rs2131862581
|
|
NM_000368.5(TSC1):c.1424A>G (p.Lys475Arg)
|
rs2131862407
|
|
NM_000368.5(TSC1):c.1426G>A (p.Asp476Asn)
|
|
|
NM_000368.5(TSC1):c.1429A>G (p.Lys477Glu)
|
|
|
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr)
|
rs1554816213
|
|
NM_000368.5(TSC1):c.1430AAG[2] (p.Glu479del)
|
rs1233867963
|
|
NM_000368.5(TSC1):c.1433A>G (p.Glu478Gly)
|
rs118203529
|
|
NM_000368.5(TSC1):c.1438+5T>C
|
rs1060503215
|
|
NM_000368.5(TSC1):c.1439-3C>T
|
rs2131851362
|
|
NM_000368.5(TSC1):c.1439-6T>G
|
rs1845661202
|
|
NM_000368.5(TSC1):c.1439-7C>A
|
rs1588311354
|
|
NM_000368.5(TSC1):c.143A>G (p.Tyr48Cys)
|
|
|
NM_000368.5(TSC1):c.1442C>T (p.Ala481Val)
|
rs775367219
|
|
NM_000368.5(TSC1):c.1445T>C (p.Ile482Thr)
|
|
|
NM_000368.5(TSC1):c.1446A>G (p.Ile482Met)
|
rs1845658834
|
|
NM_000368.5(TSC1):c.1448C>T (p.Ser483Phe)
|
rs1588311235
|
|
NM_000368.5(TSC1):c.1451G>A (p.Arg484Lys)
|
|
|
NM_000368.5(TSC1):c.1454A>T (p.Glu485Val)
|
rs2131850010
|
|
NM_000368.5(TSC1):c.1459T>C (p.Ser487Pro)
|
|
|
NM_000368.5(TSC1):c.1460C>A (p.Ser487Tyr)
|
rs118203532
|
|
NM_000368.5(TSC1):c.1464G>C (p.Glu488Asp)
|
|
|
NM_000368.5(TSC1):c.1465A>T (p.Ile489Phe)
|
rs1564482602
|
|
NM_000368.5(TSC1):c.1467CAC[1] (p.Thr491del)
|
rs1554816071
|
|
NM_000368.5(TSC1):c.1469C>A (p.Thr490Asn)
|
|
|
NM_000368.5(TSC1):c.1469C>T (p.Thr490Ile)
|
rs1564482593
|
|
NM_000368.5(TSC1):c.146A>G (p.Tyr49Cys)
|
|
|
NM_000368.5(TSC1):c.146A>T (p.Tyr49Phe)
|
|
|
NM_000368.5(TSC1):c.1472C>G (p.Thr491Arg)
|
|
|
NM_000368.5(TSC1):c.1472C>T (p.Thr491Ile)
|
rs1554816070
|
|
NM_000368.5(TSC1):c.1475C>T (p.Ala492Val)
|
|
|
NM_000368.5(TSC1):c.1477G>C (p.Glu493Gln)
|
|
|
NM_000368.5(TSC1):c.1480G>A (p.Ala494Thr)
|
rs1845656527
|
|
NM_000368.5(TSC1):c.1481C>G (p.Ala494Gly)
|
|
|
NM_000368.5(TSC1):c.1481C>T (p.Ala494Val)
|
|
|
NM_000368.5(TSC1):c.1483G>A (p.Glu495Lys)
|
rs1845656110
|
|
NM_000368.5(TSC1):c.1487C>T (p.Pro496Leu)
|
|
|
NM_000368.5(TSC1):c.1489G>A (p.Val497Met)
|
rs946491568
|
|
NM_000368.5(TSC1):c.148C>G (p.Leu50Val)
|
rs2132268675
|
|
NM_000368.5(TSC1):c.1491_1493dup (p.Val498_Pro499insVal)
|
|
|
NM_000368.5(TSC1):c.1492G>A (p.Val498Ile)
|
|
|
NM_000368.5(TSC1):c.1498C>A (p.Arg500=)
|
rs118203537
|
|
NM_000368.5(TSC1):c.1499G>A (p.Arg500Gln)
|
rs118203538
|
|
NM_000368.5(TSC1):c.149T>C (p.Leu50Pro)
|
rs118203341
|
|
NM_000368.5(TSC1):c.1514C>G (p.Ser505Cys)
|
rs2131845783
|
|
NM_000368.5(TSC1):c.1516C>A (p.Pro506Thr)
|
rs2131845533
|
|
NM_000368.5(TSC1):c.1517C>A (p.Pro506His)
|
rs2131845442
|
|
NM_000368.5(TSC1):c.1522T>C (p.Tyr508His)
|
|
|
NM_000368.5(TSC1):c.1523A>G (p.Tyr508Cys)
|
rs1845653443
|
|
NM_000368.5(TSC1):c.1526G>T (p.Arg509Leu)
|
|
|
NM_000368.5(TSC1):c.1531A>G (p.Ser511Gly)
|
|
|
NM_000368.5(TSC1):c.1534C>T (p.Leu512Phe)
|
|
|
NM_000368.5(TSC1):c.1541G>A (p.Gly514Asp)
|
rs1564482313
|
|
NM_000368.5(TSC1):c.1546C>G (p.Gln516Glu)
|
|
|
NM_000368.5(TSC1):c.1558C>A (p.His520Asn)
|
|
|
NM_000368.5(TSC1):c.1558C>T (p.His520Tyr)
|
rs1845649293
|
|
NM_000368.5(TSC1):c.1562C>G (p.Ser521Trp)
|
rs759379027
|
|
NM_000368.5(TSC1):c.1565C>G (p.Ala522Gly)
|
rs1845647948
|
|
NM_000368.5(TSC1):c.1565C>T (p.Ala522Val)
|
rs1845647948
|
|
NM_000368.5(TSC1):c.1567G>A (p.Ala523Thr)
|
rs118203548
|
|
NM_000368.5(TSC1):c.1570T>G (p.Ser524Ala)
|
|
|
NM_000368.5(TSC1):c.1573A>C (p.Ser525Arg)
|
rs1845647074
|
|
NM_000368.5(TSC1):c.1573A>G (p.Ser525Gly)
|
rs1845647074
|
|
NM_000368.5(TSC1):c.1573A>T (p.Ser525Cys)
|
|
|
NM_000368.5(TSC1):c.1574G>A (p.Ser525Asn)
|
rs750784794
|
|
NM_000368.5(TSC1):c.157A>G (p.Ser53Gly)
|
|
|
NM_000368.5(TSC1):c.1581G>C (p.Gln527His)
|
rs1554815989
|
|
NM_000368.5(TSC1):c.1582G>A (p.Gly528Ser)
|
rs1845645876
|
|
NM_000368.5(TSC1):c.1582G>T (p.Gly528Cys)
|
rs1845645876
|
|
NM_000368.5(TSC1):c.1585G>T (p.Ala529Ser)
|
rs751125011
|
|
NM_000368.5(TSC1):c.1586C>T (p.Ala529Val)
|
rs1845645423
|
|
NM_000368.5(TSC1):c.1589G>A (p.Ser530Asn)
|
rs368481360
|
|
NM_000368.5(TSC1):c.158G>A (p.Ser53Asn)
|
rs1588359592
|
|
NM_000368.5(TSC1):c.1591G>T (p.Val531Leu)
|
rs377279170
|
|
NM_000368.5(TSC1):c.1595A>G (p.Asn532Ser)
|
|
|
NM_000368.5(TSC1):c.1597C>G (p.Pro533Ala)
|
rs1331420425
|
|
NM_000368.5(TSC1):c.1600G>A (p.Glu534Lys)
|
rs796053458
|
|
NM_000368.5(TSC1):c.1600G>C (p.Glu534Gln)
|
|
|
NM_000368.5(TSC1):c.1607T>C (p.Leu536Ser)
|
rs776633158
|
|
NM_000368.5(TSC1):c.1613C>G (p.Ser538Cys)
|
|
|
NM_000368.5(TSC1):c.1613C>T (p.Ser538Phe)
|
rs1588310350
|
|
NM_000368.5(TSC1):c.1619T>C (p.Leu540Pro)
|
rs1588310300
|
|
NM_000368.5(TSC1):c.1621G>A (p.Asp541Asn)
|
|
|
NM_000368.5(TSC1):c.1624A>G (p.Lys542Glu)
|
rs1845641716
|
|
NM_000368.5(TSC1):c.1625A>G (p.Lys542Arg)
|
|
|
NM_000368.5(TSC1):c.1628T>C (p.Leu543Pro)
|
rs1588310271
|
|
NM_000368.5(TSC1):c.1628T>G (p.Leu543Arg)
|
rs1588310271
|
|
NM_000368.5(TSC1):c.1638C>A (p.Asp546Glu)
|
|
|
NM_000368.5(TSC1):c.1640C>T (p.Thr547Ile)
|
|
|
NM_000368.5(TSC1):c.1647G>T (p.Lys549Asn)
|
|
|
NM_000368.5(TSC1):c.1649A>T (p.Gln550Leu)
|
|
|
NM_000368.5(TSC1):c.1663A>G (p.Ile555Val)
|
rs2131834436
|
|
NM_000368.5(TSC1):c.1666G>T (p.Asp556Tyr)
|
|
|
NM_000368.5(TSC1):c.1668C>A (p.Asp556Glu)
|
rs1845637294
|
|
NM_000368.5(TSC1):c.1671_1672delinsTT (p.Pro558Ser)
|
|
|
NM_000368.5(TSC1):c.1672C>T (p.Pro558Ser)
|
rs1554815946
|
|
NM_000368.5(TSC1):c.1677C>G (p.Cys559Trp)
|
|
|
NM_000368.5(TSC1):c.1679G>T (p.Gly560Val)
|
rs1395737285
|
|
NM_000368.5(TSC1):c.1681A>C (p.Ser561Arg)
|
rs1845635382
|
|
NM_000368.5(TSC1):c.1681A>G (p.Ser561Gly)
|
rs1845635382
|
|
NM_000368.5(TSC1):c.1684G>A (p.Ala562Thr)
|
rs1845635236
|
|
NM_000368.5(TSC1):c.1685C>T (p.Ala562Val)
|
rs377185303
|
|
NM_000368.5(TSC1):c.1687G>A (p.Asp563Asn)
|
rs1554815931
|
|
NM_000368.5(TSC1):c.1691A>G (p.Glu564Gly)
|
|
|
NM_000368.5(TSC1):c.1703G>C (p.Gly568Ala)
|
rs1845633233
|
|
NM_000368.5(TSC1):c.1703_1705del (p.Gly568del)
|
rs1845632722
|
|
NM_000368.5(TSC1):c.1706A>G (p.Asp569Gly)
|
rs1588309831
|
|
NM_000368.5(TSC1):c.1709G>C (p.Arg570Thr)
|
|
|
NM_000368.5(TSC1):c.1711G>A (p.Glu571Lys)
|
|
|
NM_000368.5(TSC1):c.1715G>C (p.Cys572Ser)
|
|
|
NM_000368.5(TSC1):c.1717C>G (p.Gln573Glu)
|
rs118203565
|
|
NM_000368.5(TSC1):c.1718A>C (p.Gln573Pro)
|
|
|
NM_000368.5(TSC1):c.1718A>G (p.Gln573Arg)
|
rs2131829461
|
|
NM_000368.5(TSC1):c.1724C>A (p.Ser575Tyr)
|
rs118203566
|
|
NM_000368.5(TSC1):c.1726T>G (p.Leu576Val)
|
|
|
NM_000368.5(TSC1):c.1729G>A (p.Glu577Lys)
|
rs118203570
|
|
NM_000368.5(TSC1):c.1731G>C (p.Glu577Asp)
|
rs118203571
|
|
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.1738A>T (p.Ile580Phe)
|
|
|
NM_000368.5(TSC1):c.1744A>T (p.Thr582Ser)
|
rs1564481573
|
|
NM_000368.5(TSC1):c.1747C>G (p.Pro583Ala)
|
rs2131827202
|
|
NM_000368.5(TSC1):c.1747C>T (p.Pro583Ser)
|
|
|
NM_000368.5(TSC1):c.1748C>T (p.Pro583Leu)
|
rs2131827057
|
|
NM_000368.5(TSC1):c.1752T>G (p.Ser584Arg)
|
rs1845627777
|
|
NM_000368.5(TSC1):c.1753C>A (p.Pro585Thr)
|
|
|
NM_000368.5(TSC1):c.1757G>A (p.Cys586Tyr)
|
rs1588309480
|
|
NM_000368.5(TSC1):c.1758T>G (p.Cys586Trp)
|
|
|
NM_000368.5(TSC1):c.175C>T (p.His59Tyr)
|
|
|
NM_000368.5(TSC1):c.1768C>T (p.Pro590Ser)
|
rs902419565
|
|
NM_000368.5(TSC1):c.176A>C (p.His59Pro)
|
rs757837986
|
|
NM_000368.5(TSC1):c.1775C>A (p.Thr592Lys)
|
|
|
NM_000368.5(TSC1):c.1775C>G (p.Thr592Arg)
|
rs775869914
|
|
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.1781T>C (p.Val594Ala)
|
|
|
NM_000368.5(TSC1):c.1781T>G (p.Val594Gly)
|
|
|
NM_000368.5(TSC1):c.1783G>T (p.Gly595Cys)
|
rs2131824204
|
|
NM_000368.5(TSC1):c.1786T>C (p.Phe596Leu)
|
|
|
NM_000368.5(TSC1):c.1787T>G (p.Phe596Cys)
|
|
|
NM_000368.5(TSC1):c.1789G>A (p.Gly597Arg)
|
|
|
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>A (p.Pro601His)
|
rs543077026
|
|
NM_000368.5(TSC1):c.1804C>A (p.Pro602Thr)
|
rs1588309106
|
|
NM_000368.5(TSC1):c.1804C>T (p.Pro602Ser)
|
|
|
NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu)
|
rs1588309097
|
|
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.1813G>C (p.Asp605His)
|
rs1588309025
|
|
NM_000368.5(TSC1):c.1814A>G (p.Asp605Gly)
|
rs994264701
|
|
NM_000368.5(TSC1):c.1815T>A (p.Asp605Glu)
|
rs2131821441
|
|
NM_000368.5(TSC1):c.1817A>C (p.His606Pro)
|
rs1845620152
|
|
NM_000368.5(TSC1):c.1817A>G (p.His606Arg)
|
|
|
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe)
|
rs1554815795
|
|
NM_000368.5(TSC1):c.1820T>A (p.Leu607His)
|
|
|
NM_000368.5(TSC1):c.1822T>C (p.Phe608Leu)
|
rs1845619679
|
|
NM_000368.5(TSC1):c.1824T>G (p.Phe608Leu)
|
|
|
NM_000368.5(TSC1):c.1825G>A (p.Glu609Lys)
|
rs118203587
|
|
NM_000368.5(TSC1):c.1828G>A (p.Val610Met)
|
rs1845619200
|
|
NM_000368.5(TSC1):c.1829T>C (p.Val610Ala)
|
rs1845619064
|
|
NM_000368.5(TSC1):c.1829T>G (p.Val610Gly)
|
rs1845619064
|
|
NM_000368.5(TSC1):c.1837C>T (p.Pro613Ser)
|
rs2131819871
|
|
NM_000368.5(TSC1):c.1841A>G (p.Lys614Arg)
|
|
|
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.1847C>G (p.Ala616Gly)
|
|
|
NM_000368.5(TSC1):c.184A>G (p.Thr62Ala)
|
|
|
NM_000368.5(TSC1):c.1852C>A (p.His618Asn)
|
rs1588308804
|
|
NM_000368.5(TSC1):c.1852C>G (p.His618Asp)
|
rs1588308804
|
|
NM_000368.5(TSC1):c.1852C>T (p.His618Tyr)
|
rs1588308804
|
|
NM_000368.5(TSC1):c.1853A>G (p.His618Arg)
|
rs2131818558
|
|
NM_000368.5(TSC1):c.1854T>G (p.His618Gln)
|
rs2131818460
|
|
NM_000368.5(TSC1):c.1855T>G (p.Phe619Val)
|
rs1554815776
|
|
NM_000368.5(TSC1):c.1855_1856inv (p.Phe619Asn)
|
|
|
NM_000368.5(TSC1):c.1859T>C (p.Val620Ala)
|
|
|
NM_000368.5(TSC1):c.185C>G (p.Thr62Ser)
|
|
|
NM_000368.5(TSC1):c.1868A>G (p.Lys623Arg)
|
|
|
NM_000368.5(TSC1):c.1871C>G (p.Thr624Ser)
|
rs754401816
|
|
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala)
|
rs886038287
|
|
NM_000368.5(TSC1):c.1876G>A (p.Glu626Lys)
|
rs397514815
|
|
NM_000368.5(TSC1):c.1876G>C (p.Glu626Gln)
|
|
|
NM_000368.5(TSC1):c.1884_1885delinsGC (p.Lys629Gln)
|
rs1554815756
|
|
NM_000368.5(TSC1):c.1888A>G (p.Lys630Glu)
|
rs1158059433
|
|
NM_000368.5(TSC1):c.1889A>C (p.Lys630Thr)
|
|
|
NM_000368.5(TSC1):c.188C>T (p.Thr63Ile)
|
rs1564503204
|
|
NM_000368.5(TSC1):c.1891G>A (p.Ala631Thr)
|
rs1845613535
|
|
NM_000368.5(TSC1):c.1895A>G (p.Lys632Arg)
|
rs1554815747
|
|
NM_000368.5(TSC1):c.1897G>C (p.Gly633Arg)
|
|
|
NM_000368.5(TSC1):c.1898G>A (p.Gly633Glu)
|
rs1554815746
|
|
NM_000368.5(TSC1):c.1901A>G (p.Asn634Ser)
|
rs2131814737
|
|
NM_000368.5(TSC1):c.1903A>C (p.Thr635Pro)
|
|
|
NM_000368.5(TSC1):c.1906G>C (p.Glu636Gln)
|
rs1588308465
|
|
NM_000368.5(TSC1):c.1911A>C (p.Glu637Asp)
|
rs1845611837
|
|
NM_000368.5(TSC1):c.1912G>A (p.Asp638Asn)
|
|
|
NM_000368.5(TSC1):c.1912G>T (p.Asp638Tyr)
|
|
|
NM_000368.5(TSC1):c.1914T>A (p.Asp638Glu)
|
|
|
NM_000368.5(TSC1):c.1918G>A (p.Val640Met)
|
rs1845611376
|
|
NM_000368.5(TSC1):c.1919T>A (p.Val640Glu)
|
rs2131813212
|
|
NM_000368.5(TSC1):c.1922C>T (p.Pro641Leu)
|
rs397514863
|
|
NM_000368.5(TSC1):c.1925C>T (p.Ser642Phe)
|
rs1845610761
|
|
NM_000368.5(TSC1):c.192G>T (p.Leu64Phe)
|
rs1554820635
|
|
NM_000368.5(TSC1):c.1933C>T (p.Pro645Ser)
|
|
|
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr)
|
rs1588308288
|
|
NM_000368.5(TSC1):c.1939G>A (p.Glu647Lys)
|
rs1171512070
|
|
NM_000368.5(TSC1):c.1940A>T (p.Glu647Val)
|
|
|
NM_000368.5(TSC1):c.194A>C (p.Gln65Pro)
|
|
|
NM_000368.5(TSC1):c.1955T>G (p.Leu652Arg)
|
|
|
NM_000368.5(TSC1):c.1960C>A (p.Gln654Lys)
|
rs75820036
|
|
NM_000368.5(TSC1):c.1961A>G (p.Gln654Arg)
|
|
|
NM_000368.5(TSC1):c.1962G>C (p.Gln654His)
|
rs1845607280
|
|
NM_000368.5(TSC1):c.1967G>C (p.Gly656Ala)
|
rs1554815701
|
|
NM_000368.5(TSC1):c.1970C>G (p.Ala657Gly)
|
rs1845606482
|
|
NM_000368.5(TSC1):c.1974C>A (p.Asp658Glu)
|
rs118203608
|
|
NM_000368.5(TSC1):c.1978C>T (p.His660Tyr)
|
|
|
NM_000368.5(TSC1):c.1983C>T (p.Ser661=)
|
|
|
NM_000368.5(TSC1):c.1985A>C (p.Lys662Thr)
|
|
|
NM_000368.5(TSC1):c.1987_1988delinsTT (p.Glu663Leu)
|
|
|
NM_000368.5(TSC1):c.1988A>T (p.Glu663Val)
|
rs1845605103
|
|
NM_000368.5(TSC1):c.1995C>A (p.Asn665Lys)
|
|
|
NM_000368.5(TSC1):c.1995C>G (p.Asn665Lys)
|
rs748733167
|
|
NM_000368.5(TSC1):c.1996A>G (p.Lys666Glu)
|
rs1845604585
|
|
NM_000368.5(TSC1):c.1997+2dup
|
|
|
NM_000368.5(TSC1):c.1997+3A>C
|
|
|
NM_000368.5(TSC1):c.1997+3A>G
|
rs1554815682
|
|
NM_000368.5(TSC1):c.1997+4del
|
rs2131806631
|
|
NM_000368.5(TSC1):c.1997+5G>A
|
rs1554815679
|
|
NM_000368.5(TSC1):c.1997+6G>A
|
rs553762962
|
|
NM_000368.5(TSC1):c.1998-14A>G
|
rs1845549826
|
|
NM_000368.5(TSC1):c.19G>A (p.Val7Ile)
|
|
|
NM_000368.5(TSC1):c.2000T>C (p.Leu667Ser)
|
|
|
NM_000368.5(TSC1):c.2006T>C (p.Leu669Ser)
|
rs118203617
|
|
NM_000368.5(TSC1):c.2008C>A (p.Pro670Thr)
|
|
|
NM_000368.5(TSC1):c.2009C>A (p.Pro670His)
|
|
|
NM_000368.5(TSC1):c.2011A>G (p.Ser671Gly)
|
rs1475481061
|
|
NM_000368.5(TSC1):c.2013C>A (p.Ser671Arg)
|
rs1845545985
|
|
NM_000368.5(TSC1):c.2018C>G (p.Ser673Cys)
|
rs774835995
|
|
NM_000368.5(TSC1):c.2020G>A (p.Val674Ile)
|
rs1845544758
|
|
NM_000368.5(TSC1):c.2021T>C (p.Val674Ala)
|
|
|
NM_000368.5(TSC1):c.2021T>G (p.Val674Gly)
|
rs1588305911
|
|
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.2034C>G (p.His678Gln)
|
rs201392975
|
|
NM_000368.5(TSC1):c.2040A>C (p.Gly680=)
|
rs2131786060
|
|
NM_000368.5(TSC1):c.2041+5A>C
|
|
|
NM_000368.5(TSC1):c.2041+5del
|
rs1564479424
|
|
NM_000368.5(TSC1):c.2041+6G>A
|
rs1845540881
|
|
NM_000368.5(TSC1):c.2045C>G (p.Ser682Cys)
|
rs919177189
|
|
NM_000368.5(TSC1):c.2045C>T (p.Ser682Phe)
|
|
|
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del)
|
rs397514799
|
|
NM_000368.5(TSC1):c.2048C>T (p.Pro683Leu)
|
rs1413960643
|
|
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.2052_2054del (p.Ser685del)
|
rs2131774168
|
|
NM_000368.5(TSC1):c.2055A>G (p.Ser685=)
|
|
|
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.2064C>G (p.Ile688Met)
|
|
|
NM_000368.5(TSC1):c.2066G>C (p.Arg689Pro)
|
rs200827913
|
|
NM_000368.5(TSC1):c.2066G>T (p.Arg689Leu)
|
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.206A>G (p.Asp69Gly)
|
rs1846914861
|
|
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>A (p.Leu691His)
|
rs876658244
|
|
NM_000368.5(TSC1):c.2072T>C (p.Leu691Pro)
|
rs876658244
|
|
NM_000368.5(TSC1):c.2072T>G (p.Leu691Arg)
|
|
|
NM_000368.5(TSC1):c.2075G>C (p.Arg692Pro)
|
rs199755731
|
|
NM_000368.5(TSC1):c.2075G>T (p.Arg692Leu)
|
|
|
NM_000368.5(TSC1):c.2077G>A (p.Asp693Asn)
|
|
|
NM_000368.5(TSC1):c.2077G>T (p.Asp693Tyr)
|
rs397514800
|
|
NM_000368.5(TSC1):c.2080C>A (p.Gln694Lys)
|
rs397514789
|
|
NM_000368.5(TSC1):c.2082G>T (p.Gln694His)
|
rs2131771543
|
|
NM_000368.5(TSC1):c.2083T>G (p.Leu695Val)
|
|
|
NM_000368.5(TSC1):c.2086C>A (p.Leu696Ile)
|
rs1845506304
|
|
NM_000368.5(TSC1):c.2086C>T (p.Leu696Phe)
|
rs1845506304
|
|
NM_000368.5(TSC1):c.208A>G (p.Lys70Glu)
|
rs876658838
|
|
NM_000368.5(TSC1):c.2095C>T (p.His699Tyr)
|
rs1845505547
|
|
NM_000368.5(TSC1):c.2096A>G (p.His699Arg)
|
rs1845505398
|
|
NM_000368.5(TSC1):c.2097C>A (p.His699Gln)
|
rs1554815319
|
|
NM_000368.5(TSC1):c.2099A>G (p.Asn700Ser)
|
rs1845504712
|
|
NM_000368.5(TSC1):c.210G>A (p.Lys70=)
|
rs1060503219
|
|
NM_000368.5(TSC1):c.210G>C (p.Lys70Asn)
|
rs1060503219
|
|
NM_000368.5(TSC1):c.211-18_211-10dup
|
rs2132240395
|
|
NM_000368.5(TSC1):c.211-3C>A
|
|
|
NM_000368.5(TSC1):c.211-3C>T
|
rs1564501920
|
|
NM_000368.5(TSC1):c.2110T>A (p.Tyr704Asn)
|
rs2131767728
|
|
NM_000368.5(TSC1):c.2111A>C (p.Tyr704Ser)
|
rs752054698
|
|
NM_000368.5(TSC1):c.2116C>A (p.Arg706Ser)
|
rs1588304163
|
|
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.2117G>C (p.Arg706Pro)
|
rs1588304158
|
|
NM_000368.5(TSC1):c.2119T>C (p.Phe707Leu)
|
rs1845501093
|
|
NM_000368.5(TSC1):c.2122A>C (p.Lys708Gln)
|
rs1845500801
|
|
NM_000368.5(TSC1):c.2126G>A (p.Arg709Lys)
|
|
|
NM_000368.5(TSC1):c.212A>G (p.His71Arg)
|
rs1588355896
|
|
NM_000368.5(TSC1):c.2131C>A (p.Gln711Lys)
|
rs118203647
|
|
NM_000368.5(TSC1):c.2138C>T (p.Ala713Val)
|
rs1286421874
|
|
NM_000368.5(TSC1):c.2141T>A (p.Leu714His)
|
rs1438737976
|
|
NM_000368.5(TSC1):c.2143C>G (p.Arg715Gly)
|
rs1564478519
|
|
NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp)
|
rs1564478519
|
|
NM_000368.5(TSC1):c.2144G>C (p.Arg715Pro)
|
|
|
NM_000368.5(TSC1):c.2146A>C (p.Asn716His)
|
rs2131763292
|
|
NM_000368.5(TSC1):c.2147A>G (p.Asn716Ser)
|
rs2131763158
|
|
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.2156T>C (p.Leu719Pro)
|
rs2131761805
|
|
NM_000368.5(TSC1):c.2156TCC[1] (p.Leu720del)
|
|
|
NM_000368.5(TSC1):c.2158C>T (p.Leu720Phe)
|
rs2131761582
|
|
NM_000368.5(TSC1):c.215T>A (p.Leu72His)
|
|
|
NM_000368.5(TSC1):c.2161C>G (p.Arg721Gly)
|
rs763357144
|
|
NM_000368.5(TSC1):c.2162G>C (p.Arg721Pro)
|
rs769566267
|
|
NM_000368.5(TSC1):c.2162G>T (p.Arg721Leu)
|
rs769566267
|
|
NM_000368.5(TSC1):c.2165A>G (p.Lys722Arg)
|
rs2131760538
|
|
NM_000368.5(TSC1):c.2167G>T (p.Val723Leu)
|
rs2131760345
|
|
NM_000368.5(TSC1):c.2171T>C (p.Ile724Thr)
|
rs796053459
|
|
NM_000368.5(TSC1):c.2173A>G (p.Lys725Glu)
|
|
|
NM_000368.5(TSC1):c.2174A>G (p.Lys725Arg)
|
|
|
NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr)
|
rs1845494587
|
|
NM_000368.5(TSC1):c.2182G>T (p.Ala728Ser)
|
rs1845494587
|
|
NM_000368.5(TSC1):c.2183C>T (p.Ala728Val)
|
rs1564478337
|
|
NM_000368.5(TSC1):c.2192A>C (p.Glu731Ala)
|
|
|
NM_000368.5(TSC1):c.2196T>G (p.His732Gln)
|
|
|
NM_000368.5(TSC1):c.2197A>C (p.Asn733His)
|
|
|
NM_000368.5(TSC1):c.2198A>C (p.Asn733Thr)
|
rs1564478277
|
|
NM_000368.5(TSC1):c.2198A>G (p.Asn733Ser)
|
rs1564478277
|
|
NM_000368.5(TSC1):c.2206A>T (p.Met736Leu)
|
rs2131756215
|
|
NM_000368.5(TSC1):c.2208+12_2208+29del
|
|
|
NM_000368.5(TSC1):c.2209-10T>G
|
rs2131742414
|
|
NM_000368.5(TSC1):c.2209A>G (p.Lys737Glu)
|
rs1588302128
|
|
NM_000368.5(TSC1):c.220G>A (p.Asp74Asn)
|
rs2132238980
|
|
NM_000368.5(TSC1):c.220G>C (p.Asp74His)
|
|
|
NM_000368.5(TSC1):c.2210A>T (p.Lys737Ile)
|
|
|
NM_000368.5(TSC1):c.2213A>T (p.Asp738Val)
|
rs1350928783
|
|
NM_000368.5(TSC1):c.2215C>G (p.Gln739Glu)
|
|
|
NM_000368.5(TSC1):c.221A>G (p.Asp74Gly)
|
rs1846821741
|
|
NM_000368.5(TSC1):c.2221A>C (p.Lys741Gln)
|
rs587778723
|
|
NM_000368.5(TSC1):c.2222A>C (p.Lys741Thr)
|
rs1588302047
|
|
NM_000368.5(TSC1):c.2225T>C (p.Leu742Ser)
|
rs1060503201
|
|
NM_000368.5(TSC1):c.222C>G (p.Asp74Glu)
|
|
|
NM_000368.5(TSC1):c.2231A>G (p.Glu744Gly)
|
|
|
NM_000368.5(TSC1):c.2234A>G (p.Lys745Arg)
|
|
|
NM_000368.5(TSC1):c.2235G>C (p.Lys745Asn)
|
rs753265422
|
|
NM_000368.5(TSC1):c.2235G>T (p.Lys745Asn)
|
rs753265422
|
|
NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr)
|
rs786203007
|
|
NM_000368.5(TSC1):c.2239A>G (p.Ile747Val)
|
rs1564477496
|
|
NM_000368.5(TSC1):c.2244G>C (p.Gln748His)
|
rs1588301930
|
|
NM_000368.5(TSC1):c.2247G>T (p.Met749Ile)
|
|
|
NM_000368.5(TSC1):c.2251A>C (p.Lys751Gln)
|
rs1845453569
|
|
NM_000368.5(TSC1):c.2252A>G (p.Lys751Arg)
|
|
|
NM_000368.5(TSC1):c.2253G>T (p.Lys751Asn)
|
rs1845453410
|
|
NM_000368.5(TSC1):c.2254G>A (p.Val752Ile)
|
rs765643529
|
|
NM_000368.5(TSC1):c.2254G>C (p.Val752Leu)
|
|
|
NM_000368.5(TSC1):c.2269G>C (p.Glu757Gln)
|
rs1057519319
|
|
NM_000368.5(TSC1):c.2270A>T (p.Glu757Val)
|
rs1845452248
|
|
NM_000368.5(TSC1):c.2275G>A (p.Ala759Thr)
|
rs1060503199
|
|
NM_000368.5(TSC1):c.2276C>T (p.Ala759Val)
|
rs1554815021
|
|
NM_000368.5(TSC1):c.227T>A (p.Ile76Asn)
|
rs118203355
|
|
NM_000368.5(TSC1):c.2282A>G (p.Tyr761Cys)
|
rs1554815018
|
|
NM_000368.5(TSC1):c.2286T>A (p.Asn762Lys)
|
rs1554815010
|
|
NM_000368.5(TSC1):c.2287C>G (p.Gln763Glu)
|
rs118203671
|
|
NM_000368.5(TSC1):c.2290C>T (p.Leu764Phe)
|
|
|
NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu)
|
rs118203675
|
|
NM_000368.5(TSC1):c.229A>G (p.Asn77Asp)
|
rs2132238313
|
|
NM_000368.5(TSC1):c.2300A>C (p.Gln767Pro)
|
rs1845449144
|
|
NM_000368.5(TSC1):c.2300A>G (p.Gln767Arg)
|
rs1845449144
|
|
NM_000368.5(TSC1):c.2301G>T (p.Gln767His)
|
rs1845448996
|
|
NM_000368.5(TSC1):c.2302C>T (p.Arg768Cys)
|
rs1588301564
|
|
NM_000368.5(TSC1):c.2311A>G (p.Met771Val)
|
rs1057522203
|
|
NM_000368.5(TSC1):c.2314G>A (p.Val772Ile)
|
rs1468880078
|
|
NM_000368.5(TSC1):c.2314G>C (p.Val772Leu)
|
|
|
NM_000368.5(TSC1):c.2314G>T (p.Val772Leu)
|
|
|
NM_000368.5(TSC1):c.2317A>G (p.Thr773Ala)
|
|
|
NM_000368.5(TSC1):c.2317_2318delinsCA (p.Thr773His)
|
rs1060503202
|
|
NM_000368.5(TSC1):c.2321A>C (p.Lys774Thr)
|
rs2131733177
|
|
NM_000368.5(TSC1):c.2326C>A (p.His776Asn)
|
|
|
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.2332C>A (p.Gln778Lys)
|
|
|
NM_000368.5(TSC1):c.2333A>T (p.Gln778Leu)
|
rs1845445850
|
|
NM_000368.5(TSC1):c.2335A>C (p.Ile779Leu)
|
|
|
NM_000368.5(TSC1):c.2335A>G (p.Ile779Val)
|
rs1845445721
|
|
NM_000368.5(TSC1):c.2337C>G (p.Ile779Met)
|
|
|
NM_000368.5(TSC1):c.2339G>A (p.Arg780Lys)
|
rs1845445479
|
|
NM_000368.5(TSC1):c.2344C>G (p.Leu782Val)
|
|
|
NM_000368.5(TSC1):c.2345T>A (p.Leu782Gln)
|
rs1845444954
|
|
NM_000368.5(TSC1):c.2350C>T (p.His784Tyr)
|
|
|
NM_000368.5(TSC1):c.2354A>G (p.Asp785Gly)
|
rs2131730508
|
|
NM_000368.5(TSC1):c.2357G>T (p.Arg786Leu)
|
|
|
NM_000368.5(TSC1):c.2359G>A (p.Glu787Lys)
|
rs1564477097
|
|
NM_000368.5(TSC1):c.235T>C (p.Tyr79His)
|
rs1846820628
|
|
NM_000368.5(TSC1):c.2361G>C (p.Glu787Asp)
|
rs1564477079
|
|
NM_000368.5(TSC1):c.2364A>T (p.Glu788Asp)
|
|
|
NM_000368.5(TSC1):c.236A>G (p.Tyr79Cys)
|
rs373855276
|
|
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.2390A>G (p.Gln797Arg)
|
|
|
NM_000368.5(TSC1):c.2390A>T (p.Gln797Leu)
|
rs2131727903
|
|
NM_000368.5(TSC1):c.2391+1G>A
|
rs1060503224
|
|
NM_000368.5(TSC1):c.2391G>T (p.Gln797His)
|
|
|
NM_000368.5(TSC1):c.2392-10C>G
|
rs2131711171
|
|
NM_000368.5(TSC1):c.2392-15C>G
|
|
|
NM_000368.5(TSC1):c.2392-1G>C
|
|
|
NM_000368.5(TSC1):c.2392-3C>T
|
rs561093328
|
|
NM_000368.5(TSC1):c.2392-6G>A
|
|
|
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met)
|
rs1331635112
|
|
NM_000368.5(TSC1):c.239T>C (p.Val80Ala)
|
|
|
NM_000368.5(TSC1):c.23G>A (p.Gly8Glu)
|
rs1269896419
|
|
NM_000368.5(TSC1):c.23G>T (p.Gly8Val)
|
rs1269896419
|
|
NM_000368.5(TSC1):c.2402A>G (p.Glu801Gly)
|
|
|
NM_000368.5(TSC1):c.2413A>G (p.Asn805Asp)
|
rs1845380748
|
|
NM_000368.5(TSC1):c.2416A>G (p.Met806Val)
|
rs1845380611
|
|
NM_000368.5(TSC1):c.2417T>C (p.Met806Thr)
|
rs2131708510
|
|
NM_000368.5(TSC1):c.2419A>G (p.Ile807Val)
|
rs2131708365
|
|
NM_000368.5(TSC1):c.2425G>A (p.Glu809Lys)
|
rs118203692
|
|
NM_000368.5(TSC1):c.2429T>G (p.Leu810Arg)
|
|
|
NM_000368.5(TSC1):c.2435T>C (p.Ile812Thr)
|
|
|
NM_000368.5(TSC1):c.2436A>G (p.Ile812Met)
|
|
|
NM_000368.5(TSC1):c.2438A>G (p.Glu813Gly)
|
rs1554814657
|
|
NM_000368.5(TSC1):c.2443AAG[1] (p.Lys816del)
|
rs1564476060
|
|
NM_000368.5(TSC1):c.2444A>C (p.Lys815Thr)
|
rs1588299170
|
|
NM_000368.5(TSC1):c.2445G>C (p.Lys815Asn)
|
rs1845377926
|
|
NM_000368.5(TSC1):c.2446_2447delinsGC (p.Lys816Ala)
|
|
|
NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser)
|
rs1554814652
|
|
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>A (p.Asn818Lys)
|
rs1014587956
|
|
NM_000368.5(TSC1):c.2454C>G (p.Asn818Lys)
|
rs1014587956
|
|
NM_000368.5(TSC1):c.2455A>G (p.Asn819Asp)
|
|
|
NM_000368.5(TSC1):c.2458A>G (p.Lys820Glu)
|
rs1845376841
|
|
NM_000368.5(TSC1):c.2461G>A (p.Val821Met)
|
rs1845376276
|
|
NM_000368.5(TSC1):c.2461G>C (p.Val821Leu)
|
|
|
NM_000368.5(TSC1):c.2461_2463del (p.Val821del)
|
|
|
NM_000368.5(TSC1):c.2467C>G (p.His823Asp)
|
|
|
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala)
|
rs1554814639
|
|
NM_000368.5(TSC1):c.2471C>A (p.Thr824Asn)
|
rs1845375284
|
|
NM_000368.5(TSC1):c.247G>C (p.Ala83Pro)
|
rs76667066
|
|
NM_000368.5(TSC1):c.2480T>C (p.Leu827Pro)
|
rs1845374191
|
|
NM_000368.5(TSC1):c.2486G>A (p.Ser829Asn)
|
rs1202468122
|
|
NM_000368.5(TSC1):c.248C>A (p.Ala83Asp)
|
rs1588355749
|
|
NM_000368.5(TSC1):c.248C>T (p.Ala83Val)
|
rs1588355749
|
|
NM_000368.5(TSC1):c.2491G>A (p.Val831Ile)
|
rs773279842
|
|
NM_000368.5(TSC1):c.2491G>T (p.Val831Phe)
|
rs773279842
|
|
NM_000368.5(TSC1):c.2498_2499inv (p.Gln833Leu)
|
|
|
NM_000368.5(TSC1):c.24G>T (p.Gly8=)
|
rs2132296659
|
|
NM_000368.5(TSC1):c.2502+1G>T
|
|
|
NM_000368.5(TSC1):c.2503-14T>G
|
|
|
NM_000368.5(TSC1):c.2506T>C (p.Ser836Pro)
|
rs1845336311
|
|
NM_000368.5(TSC1):c.2506T>G (p.Ser836Ala)
|
|
|
NM_000368.5(TSC1):c.2512A>G (p.Ser838Gly)
|
rs1845335475
|
|
NM_000368.5(TSC1):c.2513G>A (p.Ser838Asn)
|
rs1060503208
|
|
NM_000368.5(TSC1):c.2513G>C (p.Ser838Thr)
|
rs1060503208
|
|
NM_000368.5(TSC1):c.2515G>A (p.Glu839Lys)
|
rs2131689008
|
|
NM_000368.5(TSC1):c.253A>G (p.Thr85Ala)
|
rs2132236558
|
|
NM_000368.5(TSC1):c.2547C>A (p.Asn849Lys)
|
rs1554814418
|
|
NM_000368.5(TSC1):c.2547C>G (p.Asn849Lys)
|
rs1554814418
|
|
NM_000368.5(TSC1):c.2549G>A (p.Arg850Lys)
|
rs1060503195
|
|
NM_000368.5(TSC1):c.2551C>G (p.Gln851Glu)
|
rs1588297391
|
|
NM_000368.5(TSC1):c.2555T>C (p.Leu852Pro)
|
|
|
NM_000368.5(TSC1):c.2564T>C (p.Leu855Pro)
|
rs1845331236
|
|
NM_000368.5(TSC1):c.2565T>A (p.Leu855=)
|
rs1845331038
|
|
NM_000368.5(TSC1):c.2572G>A (p.Val858Ile)
|
rs1845329722
|
|
NM_000368.5(TSC1):c.2576A>G (p.Asn859Ser)
|
rs2131686192
|
|
NM_000368.5(TSC1):c.257G>A (p.Arg86His)
|
rs1846818019
|
|
NM_000368.5(TSC1):c.25G>A (p.Glu9Lys)
|
|
|
NM_000368.5(TSC1):c.2604C>G (p.Asn868Lys)
|
|
|
NM_000368.5(TSC1):c.2606A>G (p.Lys869Arg)
|
rs1588297197
|
|
NM_000368.5(TSC1):c.2607G>C (p.Lys869Asn)
|
rs1845327520
|
|
NM_000368.5(TSC1):c.2609A>G (p.His870Arg)
|
rs1845327392
|
|
NM_000368.5(TSC1):c.2612C>T (p.Ser871Leu)
|
rs1166302175
|
|
NM_000368.5(TSC1):c.2614G>A (p.Asp872Asn)
|
rs746607455
|
|
NM_000368.5(TSC1):c.2618C>A (p.Thr873Asn)
|
|
|
NM_000368.5(TSC1):c.2618C>T (p.Thr873Ile)
|
|
|
NM_000368.5(TSC1):c.2620A>C (p.Thr874Pro)
|
rs1554814368
|
|
NM_000368.5(TSC1):c.2621C>T (p.Thr874Ile)
|
rs2131684508
|
|
NM_000368.5(TSC1):c.2625+1G>T
|
|
|
NM_000368.5(TSC1):c.2625+357_2625+372del
|
rs1845301667
|
|
NM_000368.5(TSC1):c.2625+3A>G
|
rs1845325976
|
|
NM_000368.5(TSC1):c.2625+4T>A
|
rs1588297117
|
|
NM_000368.5(TSC1):c.2625+4T>G
|
rs1588297117
|
|
NM_000368.5(TSC1):c.2625G>T (p.Lys875Asn)
|
rs777437357
|
|
NM_000368.5(TSC1):c.2626-3_2626-2insTTT
|
rs760737807
|
|
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.2629G>C (p.Val877Leu)
|
|
|
NM_000368.5(TSC1):c.262T>G (p.Ser88Ala)
|
|
|
NM_000368.5(TSC1):c.2630T>C (p.Val877Ala)
|
rs1564472328
|
|
NM_000368.5(TSC1):c.2635A>C (p.Met879Leu)
|
rs778416424
|
|
NM_000368.5(TSC1):c.2637G>A (p.Met879Ile)
|
rs1554813610
|
|
NM_000368.5(TSC1):c.2637G>C (p.Met879Ile)
|
rs1554813610
|
|
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile)
|
rs1554813610
|
|
NM_000368.5(TSC1):c.2639T>C (p.Met880Thr)
|
|
|
NM_000368.5(TSC1):c.263C>G (p.Ser88Cys)
|
rs1588355606
|
|
NM_000368.5(TSC1):c.2640G>A (p.Met880Ile)
|
rs1218889799
|
|
NM_000368.5(TSC1):c.2640G>T (p.Met880Ile)
|
rs1218889799
|
|
NM_000368.5(TSC1):c.2644G>A (p.Ala882Thr)
|
rs1271658593
|
|
NM_000368.5(TSC1):c.2645C>G (p.Ala882Gly)
|
|
|
NM_000368.5(TSC1):c.2645C>T (p.Ala882Val)
|
rs1554813594
|
|
NM_000368.5(TSC1):c.265A>G (p.Ile89Val)
|
rs1564501798
|
|
NM_000368.5(TSC1):c.2665G>A (p.Glu889Lys)
|
|
|
NM_000368.5(TSC1):c.2667A>C (p.Glu889Asp)
|
|
|
NM_000368.5(TSC1):c.2668A>G (p.Lys890Glu)
|
rs543892243
|
|
NM_000368.5(TSC1):c.266T>C (p.Ile89Thr)
|
rs1564501791
|
|
NM_000368.5(TSC1):c.2672A>G (p.Asn891Ser)
|
rs1060503203
|
|
NM_000368.5(TSC1):c.2674A>G (p.Arg892Gly)
|
|
|
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.2684T>C (p.Val895Ala)
|
rs1845148114
|
|
NM_000368.5(TSC1):c.2686C>T (p.Leu896Phe)
|
rs377132822
|
|
NM_000368.5(TSC1):c.268C>T (p.Leu90Phe)
|
rs2132235523
|
|
NM_000368.5(TSC1):c.2691G>T (p.Gln897His)
|
rs372915963
|
|
NM_000368.5(TSC1):c.2692C>A (p.Gln898Lys)
|
rs118203728
|
|
NM_000368.5(TSC1):c.2695A>T (p.Thr899Ser)
|
|
|
NM_000368.5(TSC1):c.2698C>G (p.Gln900Glu)
|
rs397514871
|
|
NM_000368.5(TSC1):c.269T>C (p.Leu90Pro)
|
|
|
NM_000368.5(TSC1):c.2700G>C (p.Gln900His)
|
rs560986491
|
|
NM_000368.5(TSC1):c.2702G>A (p.Arg901Lys)
|
|
|
NM_000368.5(TSC1):c.2709T>A (p.Asp903Glu)
|
|
|
NM_000368.5(TSC1):c.270_272dup (p.Ser91_Leu92insSer)
|
|
|
NM_000368.5(TSC1):c.2710A>G (p.Thr904Ala)
|
rs1554813482
|
|
NM_000368.5(TSC1):c.2711C>A (p.Thr904Asn)
|
rs1564471932
|
|
NM_000368.5(TSC1):c.2711C>T (p.Thr904Ile)
|
rs1564471932
|
|
NM_000368.5(TSC1):c.2718A>G (p.Gln906=)
|
rs1845144230
|
|
NM_000368.5(TSC1):c.271T>G (p.Ser91Ala)
|
rs2132235320
|
|
NM_000368.5(TSC1):c.2720A>C (p.Lys907Thr)
|
|
|
NM_000368.5(TSC1):c.2730G>A (p.Leu910=)
|
rs1845142584
|
|
NM_000368.5(TSC1):c.2732A>C (p.Glu911Ala)
|
|
|
NM_000368.5(TSC1):c.2741C>A (p.Ser914Tyr)
|
|
|
NM_000368.5(TSC1):c.2741C>T (p.Ser914Phe)
|
|
|
NM_000368.5(TSC1):c.2743C>T (p.His915Tyr)
|
|
|
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro)
|
rs397514873
|
|
NM_000368.5(TSC1):c.2753A>C (p.Lys918Thr)
|
rs757025842
|
|
NM_000368.5(TSC1):c.2753A>G (p.Lys918Arg)
|
rs757025842
|
|
NM_000368.5(TSC1):c.2755A>G (p.Lys919Glu)
|
rs1319954878
|
|
NM_000368.5(TSC1):c.2756A>C (p.Lys919Thr)
|
rs1324456435
|
|
NM_000368.5(TSC1):c.2761C>A (p.His921Asn)
|
rs1588290485
|
|
NM_000368.5(TSC1):c.2761C>T (p.His921Tyr)
|
|
|
NM_000368.5(TSC1):c.2762A>G (p.His921Arg)
|
rs1845140377
|
|
NM_000368.5(TSC1):c.2764C>T (p.Leu922Phe)
|
rs1011595359
|
|
NM_000368.5(TSC1):c.2768T>C (p.Leu923Pro)
|
rs2131632108
|
|
NM_000368.5(TSC1):c.276A>C (p.Leu92Phe)
|
rs1846814862
|
|
NM_000368.5(TSC1):c.2770T>G (p.Leu924Val)
|
|
|
NM_000368.5(TSC1):c.2774A>T (p.Glu925Val)
|
rs2131631775
|
|
NM_000368.5(TSC1):c.2778G>C (p.Gln926His)
|
rs1554813423
|
|
NM_000368.5(TSC1):c.277_278inv (p.Leu93Arg)
|
|
|
NM_000368.5(TSC1):c.2781G>T (p.Lys927Asn)
|
rs118203733
|
|
NM_000368.5(TSC1):c.2788C>G (p.Leu930Val)
|
|
|
NM_000368.5(TSC1):c.278T>C (p.Leu93Pro)
|
rs118203363
|
|
NM_000368.5(TSC1):c.2791G>C (p.Glu931Gln)
|
rs1845137395
|
|
NM_000368.5(TSC1):c.2792A>C (p.Glu931Ala)
|
rs1845137259
|
|
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.2797G>A (p.Val933Ile)
|
|
|
NM_000368.5(TSC1):c.2797G>T (p.Val933Phe)
|
rs1845136906
|
|
NM_000368.5(TSC1):c.279G>A (p.Leu93=)
|
|
|
NM_000368.5(TSC1):c.2802A>T (p.Lys934Asn)
|
|
|
NM_000368.5(TSC1):c.2803C>G (p.Leu935Val)
|
|
|
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.2809G>A (p.Ala937Thr)
|
rs1845136006
|
|
NM_000368.5(TSC1):c.2812A>C (p.Arg938=)
|
rs1207111375
|
|
NM_000368.5(TSC1):c.2813+6T>C
|
rs1845135110
|
|
NM_000368.5(TSC1):c.2813G>A (p.Arg938Lys)
|
rs1249697208
|
|
NM_000368.5(TSC1):c.2814-12T>C
|
|
|
NM_000368.5(TSC1):c.2814-16G>A
|
|
|
NM_000368.5(TSC1):c.2814-4T>C
|
|
|
NM_000368.5(TSC1):c.2814-7C>G
|
|
|
NM_000368.5(TSC1):c.2814A>C (p.Arg938Ser)
|
rs1439157444
|
|
NM_000368.5(TSC1):c.2815G>A (p.Gly939Arg)
|
rs1564471685
|
|
NM_000368.5(TSC1):c.2816G>A (p.Gly939Glu)
|
|
|
NM_000368.5(TSC1):c.2816G>T (p.Gly939Val)
|
rs1350545510
|
|
NM_000368.5(TSC1):c.2819A>C (p.Gln940Pro)
|
rs1845131755
|
|
NM_000368.5(TSC1):c.281G>A (p.Gly94Asp)
|
rs2132234443
|
|
NM_000368.5(TSC1):c.281G>T (p.Gly94Val)
|
|
|
NM_000368.5(TSC1):c.2824C>G (p.Gln942Glu)
|
|
|
NM_000368.5(TSC1):c.2828C>T (p.Ala943Val)
|
|
|
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser)
|
rs751362258
|
|
NM_000368.5(TSC1):c.2831C>T (p.Ala944Val)
|
|
|
NM_000368.5(TSC1):c.2836A>G (p.Ser946Gly)
|
rs1060503225
|
|
NM_000368.5(TSC1):c.2836A>T (p.Ser946Cys)
|
rs1060503225
|
|
NM_000368.5(TSC1):c.2837G>A (p.Ser946Asn)
|
rs1845130264
|
|
NM_000368.5(TSC1):c.2837G>C (p.Ser946Thr)
|
|
|
NM_000368.5(TSC1):c.2839A>G (p.Arg947Gly)
|
rs1845130132
|
|
NM_000368.5(TSC1):c.2841G>T (p.Arg947Ser)
|
rs1417111404
|
|
NM_000368.5(TSC1):c.2843A>G (p.Tyr948Cys)
|
rs989183765
|
|
NM_000368.5(TSC1):c.2843A>T (p.Tyr948Phe)
|
rs989183765
|
|
NM_000368.5(TSC1):c.2848G>A (p.Ala950Thr)
|
|
|
NM_000368.5(TSC1):c.2848G>T (p.Ala950Ser)
|
rs1845129427
|
|
NM_000368.5(TSC1):c.2849C>T (p.Ala950Val)
|
|
|
NM_000368.5(TSC1):c.2854A>G (p.Lys952Glu)
|
|
|
NM_000368.5(TSC1):c.2860A>G (p.Ile954Val)
|
|
|
NM_000368.5(TSC1):c.2861T>A (p.Ile954Lys)
|
rs1845129125
|
|
NM_000368.5(TSC1):c.2861_2862delinsAC (p.Ile954Asn)
|
rs1564471610
|
|
NM_000368.5(TSC1):c.2864C>T (p.Thr955Ile)
|
|
|
NM_000368.5(TSC1):c.2867A>T (p.Gln956Leu)
|
rs1212768461
|
|
NM_000368.5(TSC1):c.2869G>A (p.Val957Met)
|
|
|
NM_000368.5(TSC1):c.286G>A (p.Val96Ile)
|
|
|
NM_000368.5(TSC1):c.286G>C (p.Val96Leu)
|
rs987344953
|
|
NM_000368.5(TSC1):c.2881G>A (p.Glu961Lys)
|
|
|
NM_000368.5(TSC1):c.2881G>C (p.Glu961Gln)
|
|
|
NM_000368.5(TSC1):c.2883G>C (p.Glu961Asp)
|
rs2131626309
|
|
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.2885T>A (p.Ile962Asn)
|
rs1438535722
|
|
NM_000368.5(TSC1):c.2885T>C (p.Ile962Thr)
|
|
|
NM_000368.5(TSC1):c.2888T>C (p.Leu963Ser)
|
rs2131626118
|
|
NM_000368.5(TSC1):c.2889A>G (p.Leu963=)
|
|
|
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.2893_2894dup (p.Leu965fs)
|
|
|
NM_000368.5(TSC1):c.2895A>T (p.Leu965Phe)
|
rs750886491
|
|
NM_000368.5(TSC1):c.2899G>T (p.Gly967Cys)
|
|
|
NM_000368.5(TSC1):c.28C>A (p.Leu10Ile)
|
rs1399717425
|
|
NM_000368.5(TSC1):c.2903G>A (p.Arg968Lys)
|
|
|
NM_000368.5(TSC1):c.2908G>A (p.Glu970Lys)
|
|
|
NM_000368.5(TSC1):c.2909A>G (p.Glu970Gly)
|
rs1372477238
|
|
NM_000368.5(TSC1):c.2914G>A (p.Asp972Asn)
|
rs1845122540
|
|
NM_000368.5(TSC1):c.2915A>G (p.Asp972Gly)
|
rs2131625009
|
|
NM_000368.5(TSC1):c.2920C>T (p.Leu974Phe)
|
|
|
NM_000368.5(TSC1):c.2921T>G (p.Leu974Arg)
|
rs2131624756
|
|
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu)
|
rs796053448
|
|
NM_000368.5(TSC1):c.292A>G (p.Arg98Gly)
|
rs2132233857
|
|
NM_000368.5(TSC1):c.2931del (p.Lys977fs)
|
rs1845120600
|
|
NM_000368.5(TSC1):c.2932C>A (p.Leu978Ile)
|
rs397514859
|
|
NM_000368.5(TSC1):c.2932C>T (p.Leu978Phe)
|
|
|
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.2935G>A (p.Glu979Lys)
|
rs1845118974
|
|
NM_000368.5(TSC1):c.2935GAA[2] (p.Glu981del)
|
rs1233796412
|
|
NM_000368.5(TSC1):c.2938G>A (p.Glu980Lys)
|
rs876658600
|
|
NM_000368.5(TSC1):c.2942A>G (p.Glu981Gly)
|
rs2131623978
|
|
NM_000368.5(TSC1):c.2947G>A (p.Ala983Thr)
|
rs1845117262
|
|
NM_000368.5(TSC1):c.2947G>T (p.Ala983Ser)
|
rs1845117262
|
|
NM_000368.5(TSC1):c.2948C>G (p.Ala983Gly)
|
rs2131623702
|
|
NM_000368.5(TSC1):c.2949_2957del (p.985AAE[1])
|
rs767902029
|
|
NM_000368.5(TSC1):c.2953G>A (p.Ala985Thr)
|
rs1554813242
|
|
NM_000368.5(TSC1):c.2954C>T (p.Ala985Val)
|
|
|
NM_000368.5(TSC1):c.2958_2959insCTCCCTCTCCCTCTCCCTCTCCCACGGCCGCGGGCACCCCCCGCACACCGCCACACACCCACCCAAACCCCCAACAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAAAGCAGAAGCAGCT (p.Glu987fs)
|
|
|
NM_000368.5(TSC1):c.2958_2966dup (p.985AAE[3])
|
rs2131622960
|
|
NM_000368.5(TSC1):c.2960A>G (p.Glu987Gly)
|
rs867884507
|
|
NM_000368.5(TSC1):c.2963C>T (p.Ala988Val)
|
rs1239372124
|
|
NM_000368.5(TSC1):c.2966C>T (p.Ala989Val)
|
rs1554813219
|
|
NM_000368.5(TSC1):c.2970A>C (p.Glu990Asp)
|
|
|
NM_000368.5(TSC1):c.2972A>G (p.Glu991Gly)
|
|
|
NM_000368.5(TSC1):c.2974del (p.Arg992fs)
|
rs1554813210
|
|
NM_000368.5(TSC1):c.2975+1G>A
|
|
|
NM_000368.5(TSC1):c.2975+3A>G
|
rs2131622699
|
|
NM_000368.5(TSC1):c.2975+5G>T
|
|
|
NM_000368.5(TSC1):c.2976-13G>A
|
|
|
NM_000368.5(TSC1):c.2976G>T (p.Arg992Ser)
|
rs1453837305
|
|
NM_000368.5(TSC1):c.2977C>T (p.Leu993Phe)
|
rs1177810382
|
|
NM_000368.5(TSC1):c.2980G>C (p.Asp994His)
|
rs78868727
|
|
NM_000368.5(TSC1):c.2983T>C (p.Cys995Arg)
|
|
|
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly)
|
rs1554813029
|
|
NM_000368.5(TSC1):c.2991T>G (p.Asn997Lys)
|
|
|
NM_000368.5(TSC1):c.2993A>T (p.Asp998Val)
|
|
|
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.2999G>A (p.Cys1000Tyr)
|
rs1845088618
|
|
NM_000368.5(TSC1):c.2999G>T (p.Cys1000Phe)
|
|
|
NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp)
|
rs552217429
|
|
NM_000368.5(TSC1):c.3002C>T (p.Ser1001Leu)
|
|
|
NM_000368.5(TSC1):c.3004G>A (p.Asp1002Asn)
|
rs1588288289
|
|
NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe)
|
rs1554812991
|
|
NM_000368.5(TSC1):c.3010A>T (p.Met1004Leu)
|
rs371879917
|
|
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.3020A>G (p.His1007Arg)
|
|
|
NM_000368.5(TSC1):c.3021C>A (p.His1007Gln)
|
|
|
NM_000368.5(TSC1):c.3026A>G (p.Glu1009Gly)
|
|
|
NM_000368.5(TSC1):c.3034T>C (p.Ser1012Pro)
|
rs764979889
|
|
NM_000368.5(TSC1):c.3035C>T (p.Ser1012Phe)
|
|
|
NM_000368.5(TSC1):c.3041A>G (p.His1014Arg)
|
rs2131613922
|
|
NM_000368.5(TSC1):c.3042C>A (p.His1014Gln)
|
rs1394343524
|
|
NM_000368.5(TSC1):c.3044A>G (p.Asn1015Ser)
|
|
|
NM_000368.5(TSC1):c.3045C>A (p.Asn1015Lys)
|
rs759047948
|
|
NM_000368.5(TSC1):c.3046G>T (p.Gly1016Cys)
|
rs1020905743
|
|
NM_000368.5(TSC1):c.3049G>A (p.Glu1017Lys)
|
rs1554812930
|
|
NM_000368.5(TSC1):c.3049G>C (p.Glu1017Gln)
|
|
|
NM_000368.5(TSC1):c.304T>A (p.Ser102Thr)
|
rs796053453
|
|
NM_000368.5(TSC1):c.304T>C (p.Ser102Pro)
|
rs796053453
|
|
NM_000368.5(TSC1):c.3050A>G (p.Glu1017Gly)
|
rs922638686
|
|
NM_000368.5(TSC1):c.3056A>G (p.Lys1019Arg)
|
rs2131612809
|
|
NM_000368.5(TSC1):c.3058A>G (p.Thr1020Ala)
|
rs1588287982
|
|
NM_000368.5(TSC1):c.3059C>A (p.Thr1020Asn)
|
|
|
NM_000368.5(TSC1):c.3059C>T (p.Thr1020Ile)
|
rs1060503214
|
|
NM_000368.5(TSC1):c.3061C>T (p.Pro1021Ser)
|
rs1845082934
|
|
NM_000368.5(TSC1):c.3062C>G (p.Pro1021Arg)
|
rs1845082733
|
|
NM_000368.5(TSC1):c.3065G>A (p.Arg1022Lys)
|
|
|
NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn)
|
rs1845081620
|
|
NM_000368.5(TSC1):c.3074G>C (p.Ser1025Thr)
|
|
|
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.3085A>T (p.Ser1029Cys)
|
rs2131610745
|
|
NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn)
|
rs796053450
|
|
NM_000368.5(TSC1):c.3088A>G (p.Ser1030Gly)
|
|
|
NM_000368.5(TSC1):c.3088A>T (p.Ser1030Cys)
|
rs1588287783
|
|
NM_000368.5(TSC1):c.308G>T (p.Trp103Leu)
|
rs118203364
|
|
NM_000368.5(TSC1):c.3090T>A (p.Ser1030Arg)
|
|
|
NM_000368.5(TSC1):c.3091G>A (p.Gly1031Arg)
|
rs772043928
|
|
NM_000368.5(TSC1):c.3099A>C (p.Arg1033Ser)
|
rs1015742388
|
|
NM_000368.5(TSC1):c.3099A>T (p.Arg1033Ser)
|
|
|
NM_000368.5(TSC1):c.3100G>C (p.Gly1034Arg)
|
|
|
NM_000368.5(TSC1):c.3101G>T (p.Gly1034Val)
|
rs1034398735
|
|
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.3109_3111dup (p.Gly1037dup)
|
rs2131608962
|
|
NM_000368.5(TSC1):c.3112AGC[3] (p.Ser1041_Ser1043del)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3112AGC[4] (p.Ser1042_Ser1043del)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3113G>A (p.Ser1038Asn)
|
rs1060503196
|
|
NM_000368.5(TSC1):c.3113G>T (p.Ser1038Ile)
|
rs1060503196
|
|
NM_000368.5(TSC1):c.3114C>G (p.Ser1038Arg)
|
rs1588287598
|
|
NM_000368.5(TSC1):c.3121A>G (p.Ser1041Gly)
|
rs1060503204
|
|
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.3128G>A (p.Ser1043Asn)
|
|
|
NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer)
|
rs1588287475
|
|
NM_000368.5(TSC1):c.3130G>C (p.Glu1044Gln)
|
|
|
NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe)
|
rs747162992
|
|
NM_000368.5(TSC1):c.3134T>A (p.Leu1045His)
|
rs2131606944
|
|
NM_000368.5(TSC1):c.3137C>T (p.Ser1046Phe)
|
rs1845071202
|
|
NM_000368.5(TSC1):c.3140C>G (p.Thr1047Ser)
|
rs587778726
|
|
NM_000368.5(TSC1):c.3142C>T (p.Pro1048Ser)
|
|
|
NM_000368.5(TSC1):c.3143C>G (p.Pro1048Arg)
|
|
|
NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu)
|
rs1203864892
|
|
NM_000368.5(TSC1):c.3146A>G (p.Glu1049Gly)
|
rs2131606041
|
|
NM_000368.5(TSC1):c.3147G>C (p.Glu1049Asp)
|
rs397514831
|
|
NM_000368.5(TSC1):c.314A>C (p.His105Pro)
|
rs758924121
|
|
NM_000368.5(TSC1):c.3157C>G (p.His1053Asp)
|
|
|
NM_000368.5(TSC1):c.3160C>T (p.Gln1054Ter)
|
|
|
NM_000368.5(TSC1):c.3161A>G (p.Gln1054Arg)
|
rs1588287238
|
|
NM_000368.5(TSC1):c.316A>G (p.Lys106Glu)
|
|
|
NM_000368.5(TSC1):c.3170G>T (p.Gly1057Val)
|
rs1588287204
|
|
NM_000368.5(TSC1):c.3173del (p.Pro1058fs)
|
|
|
NM_000368.5(TSC1):c.3176T>G (p.Phe1059Cys)
|
|
|
NM_000368.5(TSC1):c.317A>G (p.Lys106Arg)
|
rs1846812083
|
|
NM_000368.5(TSC1):c.3181A>C (p.Ser1061Arg)
|
rs1203493016
|
|
NM_000368.5(TSC1):c.3187T>C (p.Trp1063Arg)
|
rs1845063816
|
|
NM_000368.5(TSC1):c.3190G>A (p.Glu1064Lys)
|
rs1845063569
|
|
NM_000368.5(TSC1):c.3191A>T (p.Glu1064Val)
|
|
|
NM_000368.5(TSC1):c.3192G>T (p.Glu1064Asp)
|
|
|
NM_000368.5(TSC1):c.3196A>C (p.Thr1066Pro)
|
|
|
NM_000368.5(TSC1):c.3197C>T (p.Thr1066Ile)
|
|
|
NM_000368.5(TSC1):c.3199A>C (p.Met1067Leu)
|
|
|
NM_000368.5(TSC1):c.3199A>G (p.Met1067Val)
|
rs2131602062
|
|
NM_000368.5(TSC1):c.3199_3200del (p.Met1067fs)
|
rs2131602023
|
|
NM_000368.5(TSC1):c.319C>T (p.Leu107Phe)
|
|
|
NM_000368.5(TSC1):c.31C>T (p.Leu11Phe)
|
|
|
NM_000368.5(TSC1):c.3200T>C (p.Met1067Thr)
|
rs1167362899
|
|
NM_000368.5(TSC1):c.3205G>A (p.Glu1069Lys)
|
rs1845061706
|
|
NM_000368.5(TSC1):c.3206A>T (p.Glu1069Val)
|
rs1554812780
|
|
NM_000368.5(TSC1):c.3209C>G (p.Ala1070Gly)
|
rs1060503200
|
|
NM_000368.5(TSC1):c.3212C>T (p.Ser1071Phe)
|
rs2131601255
|
|
NM_000368.5(TSC1):c.3214G>A (p.Ala1072Thr)
|
rs1845060154
|
|
NM_000368.5(TSC1):c.3214G>T (p.Ala1072Ser)
|
rs1845060154
|
|
NM_000368.5(TSC1):c.3217A>G (p.Ser1073Gly)
|
rs1845059319
|
|
NM_000368.5(TSC1):c.3223C>A (p.Pro1075Thr)
|
|
|
NM_000368.5(TSC1):c.3223C>T (p.Pro1075Ser)
|
rs1845058768
|
|
NM_000368.5(TSC1):c.3226A>C (p.Thr1076Pro)
|
rs1845058224
|
|
NM_000368.5(TSC1):c.3227C>G (p.Thr1076Ser)
|
rs2131600316
|
|
NM_000368.5(TSC1):c.3229A>G (p.Thr1077Ala)
|
|
|
NM_000368.5(TSC1):c.322T>C (p.Ser108Pro)
|
rs1178072536
|
|
NM_000368.5(TSC1):c.3235G>A (p.Gly1079Ser)
|
|
|
NM_000368.5(TSC1):c.3239C>T (p.Ser1080Leu)
|
|
|
NM_000368.5(TSC1):c.323C>G (p.Ser108Cys)
|
rs1846811712
|
|
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.3250T>C (p.Ser1084Pro)
|
rs796053463
|
|
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg)
|
rs1845053380
|
|
NM_000368.5(TSC1):c.3258C>G (p.Ser1086Arg)
|
rs1845053380
|
|
NM_000368.5(TSC1):c.325C>G (p.Gln109Glu)
|
rs397514774
|
|
NM_000368.5(TSC1):c.3260T>A (p.Phe1087Tyr)
|
rs2131598234
|
|
NM_000368.5(TSC1):c.3263T>G (p.Leu1088Arg)
|
rs1845053005
|
|
NM_000368.5(TSC1):c.3266G>A (p.Gly1089Asp)
|
rs762845573
|
|
NM_000368.5(TSC1):c.3269T>C (p.Met1090Thr)
|
|
|
NM_000368.5(TSC1):c.326A>G (p.Gln109Arg)
|
rs1846811126
|
|
NM_000368.5(TSC1):c.326_328del (p.Gln109_Ala110delinsPro)
|
rs1846810976
|
|
NM_000368.5(TSC1):c.3275C>G (p.Ala1092Gly)
|
rs1845051123
|
|
NM_000368.5(TSC1):c.3277C>T (p.Arg1093Ter)
|
rs1431256375
|
|
NM_000368.5(TSC1):c.3278G>C (p.Arg1093Pro)
|
rs550526986
|
|
NM_000368.5(TSC1):c.3280G>C (p.Glu1094Gln)
|
rs1845049905
|
|
NM_000368.5(TSC1):c.3281A>G (p.Glu1094Gly)
|
rs1588286774
|
|
NM_000368.5(TSC1):c.3281A>T (p.Glu1094Val)
|
rs1588286774
|
|
NM_000368.5(TSC1):c.3282G>T (p.Glu1094Asp)
|
|
|
NM_000368.5(TSC1):c.3283_3284delinsAG (p.Leu1095Arg)
|
|
|
NM_000368.5(TSC1):c.3290G>T (p.Arg1097Leu)
|
rs118203750
|
|
NM_000368.5(TSC1):c.3292A>C (p.Asn1098His)
|
rs1845048359
|
|
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.3298A>T (p.Ser1100Cys)
|
rs1845047652
|
|
NM_000368.5(TSC1):c.329C>T (p.Ala110Val)
|
rs1588355332
|
|
NM_000368.5(TSC1):c.3301G>A (p.Glu1101Lys)
|
rs1554812661
|
|
NM_000368.5(TSC1):c.3304A>T (p.Ser1102Cys)
|
|
|
NM_000368.5(TSC1):c.3308A>G (p.Gln1103Arg)
|
rs1564469848
|
|
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.3316G>A (p.Glu1106Lys)
|
rs2131594768
|
|
NM_000368.5(TSC1):c.3321C>G (p.Asp1107Glu)
|
rs118203752
|
|
NM_000368.5(TSC1):c.3322G>T (p.Gly1108Cys)
|
rs118203753
|
|
NM_000368.5(TSC1):c.3325A>G (p.Met1109Val)
|
rs1845043842
|
|
NM_000368.5(TSC1):c.3327G>T (p.Met1109Ile)
|
rs1845043593
|
|
NM_000368.5(TSC1):c.3328A>C (p.Thr1110Pro)
|
|
|
NM_000368.5(TSC1):c.3329C>G (p.Thr1110Ser)
|
rs952996030
|
|
NM_000368.5(TSC1):c.3329C>T (p.Thr1110Ile)
|
|
|
NM_000368.5(TSC1):c.3331A>G (p.Ser1111Gly)
|
|
|
NM_000368.5(TSC1):c.3332G>A (p.Ser1111Asn)
|
rs1554812642
|
|
NM_000368.5(TSC1):c.3335G>A (p.Ser1112Asn)
|
|
|
NM_000368.5(TSC1):c.3337C>A (p.Leu1113Ile)
|
rs1449696743
|
|
NM_000368.5(TSC1):c.3338T>C (p.Leu1113Pro)
|
rs1845042308
|
|
NM_000368.5(TSC1):c.3341C>T (p.Ser1114Phe)
|
rs2131593288
|
|
NM_000368.5(TSC1):c.3345G>C (p.Glu1115Asp)
|
rs751467429
|
|
NM_000368.5(TSC1):c.3347G>C (p.Ser1116Thr)
|
|
|
NM_000368.5(TSC1):c.3348C>A (p.Ser1116Arg)
|
|
|
NM_000368.5(TSC1):c.334C>T (p.Leu112Phe)
|
rs1554820276
|
|
NM_000368.5(TSC1):c.3353A>G (p.Lys1118Arg)
|
|
|
NM_000368.5(TSC1):c.3358_3359del (p.Glu1120fs)
|
|
|
NM_000368.5(TSC1):c.3359_3360del (p.Glu1120fs)
|
rs1845040133
|
|
NM_000368.5(TSC1):c.335T>A (p.Leu112His)
|
rs2132231093
|
|
NM_000368.5(TSC1):c.3361C>G (p.Leu1121Val)
|
rs769478982
|
|
NM_000368.5(TSC1):c.3365G>A (p.Gly1122Asp)
|
|
|
NM_000368.5(TSC1):c.3368_3369del (p.Lys1123fs)
|
rs878853967
|
|
NM_000368.5(TSC1):c.3372C>G (p.Asp1124Glu)
|
|
|
NM_000368.5(TSC1):c.3373T>A (p.Leu1125Met)
|
|
|
NM_000368.5(TSC1):c.3375_3376delinsTT (p.Leu1125_Gly1126delinsPheCys)
|
|
|
NM_000368.5(TSC1):c.3376_3377dup (p.Glu1128fs)
|
rs1845038227
|
|
NM_000368.5(TSC1):c.3379G>A (p.Val1127Met)
|
rs1845037495
|
|
NM_000368.5(TSC1):c.3379G>T (p.Val1127Leu)
|
rs1845037495
|
|
NM_000368.5(TSC1):c.3389A>G (p.Lys1130Arg)
|
rs1588286359
|
|
NM_000368.5(TSC1):c.338_343del (p.Leu113_Pro114del)
|
|
|
NM_000368.5(TSC1):c.3390G>T (p.Lys1130Asn)
|
|
|
NM_000368.5(TSC1):c.3394C>G (p.Pro1132Ala)
|
|
|
NM_000368.5(TSC1):c.3395C>T (p.Pro1132Leu)
|
rs1564469655
|
|
NM_000368.5(TSC1):c.3400A>C (p.Asn1134His)
|
rs1554812610
|
|
NM_000368.5(TSC1):c.3404T>A (p.Leu1135Gln)
|
|
|
NM_000368.5(TSC1):c.3406G>A (p.Asp1136Asn)
|
|
|
NM_000368.5(TSC1):c.3407A>G (p.Asp1136Gly)
|
rs1588286218
|
|
NM_000368.5(TSC1):c.340C>G (p.Pro114Ala)
|
|
|
NM_000368.5(TSC1):c.3410G>A (p.Gly1137Asp)
|
|
|
NM_000368.5(TSC1):c.3410G>T (p.Gly1137Val)
|
rs1845032228
|
|
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.3418C>T (p.Pro1140Ser)
|
rs2131588755
|
|
NM_000368.5(TSC1):c.341CTT[1] (p.Ser115del)
|
rs1846809072
|
|
NM_000368.5(TSC1):c.3422C>G (p.Ser1141Cys)
|
rs1344689860
|
|
NM_000368.5(TSC1):c.3424C>G (p.Pro1142Ala)
|
rs1060503227
|
|
NM_000368.5(TSC1):c.3428C>G (p.Pro1143Arg)
|
|
|
NM_000368.5(TSC1):c.3431C>T (p.Thr1144Ile)
|
rs1845027394
|
|
NM_000368.5(TSC1):c.3436G>A (p.Asp1146Asn)
|
rs397514806
|
|
NM_000368.5(TSC1):c.3436del (p.Asp1146fs)
|
rs1588285924
|
|
NM_000368.5(TSC1):c.3438C>G (p.Asp1146Glu)
|
|
|
NM_000368.5(TSC1):c.343T>A (p.Ser115Thr)
|
rs2132230552
|
|
NM_000368.5(TSC1):c.3442G>A (p.Val1148Ile)
|
rs1554812551
|
|
NM_000368.5(TSC1):c.3444del (p.Gly1149fs)
|
rs1845025560
|
|
NM_000368.5(TSC1):c.3445G>A (p.Gly1149Arg)
|
|
|
NM_000368.5(TSC1):c.3448C>T (p.Gln1150Ter)
|
rs2131586779
|
|
NM_000368.5(TSC1):c.3452T>A (p.Leu1151Gln)
|
rs2131586553
|
|
NM_000368.5(TSC1):c.3454C>T (p.His1152Tyr)
|
rs1845025129
|
|
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg)
|
rs1554812543
|
|
NM_000368.5(TSC1):c.3457A>G (p.Ile1153Val)
|
rs1845024693
|
|
NM_000368.5(TSC1):c.3458T>C (p.Ile1153Thr)
|
|
|
NM_000368.5(TSC1):c.3460A>G (p.Met1154Val)
|
rs1845024278
|
|
NM_000368.5(TSC1):c.3464A>G (p.Asp1155Gly)
|
rs2131585776
|
|
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp)
|
rs796053451
|
|
NM_000368.5(TSC1):c.3470A>G (p.Asn1157Ser)
|
rs1845023976
|
|
NM_000368.5(TSC1):c.3475A>C (p.Thr1159Pro)
|
rs1216169846
|
|
NM_000368.5(TSC1):c.3476C>T (p.Thr1159Ile)
|
rs2131585551
|
|
NM_000368.5(TSC1):c.3478CAT[1] (p.His1161del)
|
|
|
NM_000368.5(TSC1):c.347T>C (p.Leu116Ser)
|
rs2132230247
|
|
NM_000368.5(TSC1):c.3482A>G (p.His1161Arg)
|
rs1564469371
|
|
NM_000368.5(TSC1):c.3483T>A (p.His1161Gln)
|
rs1588285797
|
|
NM_000368.5(TSC1):c.3491G>A (p.Ser1164Asn)
|
rs2131585043
|
|
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro)
|
rs118203368
|
|
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.358C>A (p.Leu120Ile)
|
rs1554820263
|
|
NM_000368.5(TSC1):c.358C>T (p.Leu120Phe)
|
|
|
NM_000368.5(TSC1):c.35C>T (p.Ala12Val)
|
rs1588363595
|
|
NM_000368.5(TSC1):c.361A>C (p.Lys121Gln)
|
rs1846807332
|
|
NM_000368.5(TSC1):c.363+3A>G
|
rs1588355128
|
|
NM_000368.5(TSC1):c.363+3_363+18del
|
rs1554820251
|
|
NM_000368.5(TSC1):c.363+5_363+8del
|
rs1846805825
|
|
NM_000368.5(TSC1):c.363+6A>T
|
rs2132228938
|
|
NM_000368.5(TSC1):c.365T>C (p.Met122Thr)
|
rs796053454
|
|
NM_000368.5(TSC1):c.366G>A (p.Met122Ile)
|
|
|
NM_000368.5(TSC1):c.368A>G (p.Asp123Gly)
|
|
|
NM_000368.5(TSC1):c.370A>T (p.Thr124Ser)
|
rs745871522
|
|
NM_000368.5(TSC1):c.375C>A (p.Asp125Glu)
|
rs560863078
|
|
NM_000368.5(TSC1):c.37A>C (p.Met13Leu)
|
|
|
NM_000368.5(TSC1):c.37A>G (p.Met13Val)
|
rs768147590
|
|
NM_000368.5(TSC1):c.383T>C (p.Val128Ala)
|
rs1588350850
|
|
NM_000368.5(TSC1):c.384_401del (p.Leu129_Leu134del)
|
rs1588350733
|
|
NM_000368.5(TSC1):c.385C>A (p.Leu129Ile)
|
|
|
NM_000368.5(TSC1):c.385C>G (p.Leu129Val)
|
rs1060503198
|
|
NM_000368.5(TSC1):c.385C>T (p.Leu129Phe)
|
rs1060503198
|
|
NM_000368.5(TSC1):c.391A>T (p.Thr131Ser)
|
rs1564499857
|
|
NM_000368.5(TSC1):c.392C>T (p.Thr131Ile)
|
|
|
NM_000368.5(TSC1):c.395G>A (p.Gly132Asp)
|
rs397514784
|
|
NM_000368.5(TSC1):c.397G>T (p.Val133Phe)
|
rs118203381
|
|
NM_000368.5(TSC1):c.39G>A (p.Met13Ile)
|
rs2132296041
|
|
NM_000368.5(TSC1):c.403G>A (p.Val135Met)
|
rs1588350708
|
|
NM_000368.5(TSC1):c.403G>C (p.Val135Leu)
|
rs1588350708
|
|
NM_000368.5(TSC1):c.403G>T (p.Val135Leu)
|
|
|
NM_000368.5(TSC1):c.408G>T (p.Leu136Phe)
|
|
|
NM_000368.5(TSC1):c.412A>G (p.Thr138Ala)
|
rs1846678617
|
|
NM_000368.5(TSC1):c.413C>T (p.Thr138Ile)
|
rs1163879822
|
|
NM_000368.5(TSC1):c.419T>C (p.Leu140Pro)
|
rs1588350642
|
|
NM_000368.5(TSC1):c.421C>G (p.Pro141Ala)
|
rs1846677371
|
|
NM_000368.5(TSC1):c.425T>C (p.Met142Thr)
|
rs886042190
|
|
NM_000368.5(TSC1):c.430C>G (p.Pro144Ala)
|
rs2132190386
|
|
NM_000368.5(TSC1):c.431C>A (p.Pro144Gln)
|
rs1846676674
|
|
NM_000368.5(TSC1):c.434A>C (p.Gln145Pro)
|
|
|
NM_000368.5(TSC1):c.434A>G (p.Gln145Arg)
|
rs2132190023
|
|
NM_000368.5(TSC1):c.436T>C (p.Ser146Pro)
|
|
|
NM_000368.5(TSC1):c.439G>A (p.Gly147Arg)
|
|
|
NM_000368.5(TSC1):c.43G>A (p.Asp15Asn)
|
rs1554821020
|
|
NM_000368.5(TSC1):c.43G>T (p.Asp15Tyr)
|
|
|
NM_000368.5(TSC1):c.440G>C (p.Gly147Ala)
|
rs1846675803
|
|
NM_000368.5(TSC1):c.448C>T (p.His150Tyr)
|
rs1060503206
|
|
NM_000368.5(TSC1):c.449A>G (p.His150Arg)
|
|
|
NM_000368.5(TSC1):c.44_58del (p.Asp15_Leu19del)
|
rs1847036151
|
|
NM_000368.5(TSC1):c.452T>G (p.Leu151Arg)
|
rs2132189225
|
|
NM_000368.5(TSC1):c.460T>A (p.Phe154Ile)
|
rs1485129708
|
|
NM_000368.5(TSC1):c.462C>G (p.Phe154Leu)
|
|
|
NM_000368.5(TSC1):c.469A>G (p.Ile157Val)
|
rs1846673273
|
|
NM_000368.5(TSC1):c.470T>C (p.Ile157Thr)
|
rs2132188270
|
|
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser)
|
rs118203385
|
|
NM_000368.5(TSC1):c.475G>A (p.Gly159Ser)
|
rs1846672854
|
|
NM_000368.5(TSC1):c.476G>A (p.Gly159Asp)
|
rs2132187882
|
|
NM_000368.5(TSC1):c.478C>T (p.Arg160Cys)
|
rs1554819886
|
|
NM_000368.5(TSC1):c.479G>C (p.Arg160Pro)
|
|
|
NM_000368.5(TSC1):c.47C>A (p.Ser16Tyr)
|
|
|
NM_000368.5(TSC1):c.47C>T (p.Ser16Phe)
|
rs774900322
|
|
NM_000368.5(TSC1):c.482T>A (p.Leu161Gln)
|
|
|
NM_000368.5(TSC1):c.484T>C (p.Ser162Pro)
|
rs1060503205
|
|
NM_000368.5(TSC1):c.484_498del (p.Ser162_Leu166del)
|
|
|
NM_000368.5(TSC1):c.488C>T (p.Ser163Leu)
|
|
|
NM_000368.5(TSC1):c.491G>T (p.Trp164Leu)
|
rs118203387
|
|
NM_000368.5(TSC1):c.492G>C (p.Trp164Cys)
|
rs1554819870
|
|
NM_000368.5(TSC1):c.495C>G (p.Cys165Trp)
|
|
|
NM_000368.5(TSC1):c.496C>G (p.Leu166Val)
|
|
|
NM_000368.5(TSC1):c.497T>C (p.Leu166Pro)
|
|
|
NM_000368.5(TSC1):c.4G>A (p.Ala2Thr)
|
|
|
NM_000368.5(TSC1):c.503A>G (p.Lys168Arg)
|
rs1007335343
|
|
NM_000368.5(TSC1):c.506C>A (p.Pro169Gln)
|
|
|
NM_000368.5(TSC1):c.507A>G (p.Pro169=)
|
rs1846669296
|
|
NM_000368.5(TSC1):c.508+5A>G
|
|
|
NM_000368.5(TSC1):c.508+6G>A
|
rs1846668717
|
|
NM_000368.5(TSC1):c.508+6G>C
|
rs1846668717
|
|
NM_000368.5(TSC1):c.509-10C>A
|
rs780670013
|
|
NM_000368.5(TSC1):c.509-15G>A
|
rs118203391
|
|
NM_000368.5(TSC1):c.509-17A>G
|
|
|
NM_000368.5(TSC1):c.509-5T>G
|
rs1846593189
|
|
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.521A>G (p.Glu174Gly)
|
rs1588347661
|
|
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.52A>G (p.Met18Val)
|
|
|
NM_000368.5(TSC1):c.52A>T (p.Met18Leu)
|
|
|
NM_000368.5(TSC1):c.532G>T (p.Val178Phe)
|
|
|
NM_000368.5(TSC1):c.533T>G (p.Val178Gly)
|
|
|
NM_000368.5(TSC1):c.535C>T (p.His179Tyr)
|
rs1846589515
|
|
NM_000368.5(TSC1):c.541C>A (p.His181Asn)
|
|
|
NM_000368.5(TSC1):c.541C>T (p.His181Tyr)
|
rs1057524690
|
|
NM_000368.5(TSC1):c.543T>A (p.His181Gln)
|
rs762139762
|
|
NM_000368.5(TSC1):c.544G>A (p.Ala182Thr)
|
rs2132159449
|
|
NM_000368.5(TSC1):c.545C>T (p.Ala182Val)
|
|
|
NM_000368.5(TSC1):c.548G>C (p.Ser183Thr)
|
rs1554819580
|
|
NM_000368.5(TSC1):c.550G>A (p.Val184Met)
|
|
|
NM_000368.5(TSC1):c.551T>C (p.Val184Ala)
|
|
|
NM_000368.5(TSC1):c.556G>C (p.Ala186Pro)
|
|
|
NM_000368.5(TSC1):c.556G>T (p.Ala186Ser)
|
rs1279777367
|
|
NM_000368.5(TSC1):c.557C>T (p.Ala186Val)
|
|
|
NM_000368.5(TSC1):c.559C>G (p.Leu187Val)
|
rs2132158182
|
|
NM_000368.5(TSC1):c.559C>T (p.Leu187Phe)
|
rs2132158182
|
|
NM_000368.5(TSC1):c.560T>A (p.Leu187His)
|
rs2132158100
|
|
NM_000368.5(TSC1):c.566A>T (p.His189Leu)
|
rs2132157644
|
|
NM_000368.5(TSC1):c.568C>A (p.Arg190Ser)
|
|
|
NM_000368.5(TSC1):c.571C>A (p.Leu191Ile)
|
rs1846585825
|
|
NM_000368.5(TSC1):c.571C>T (p.Leu191Phe)
|
|
|
NM_000368.5(TSC1):c.579A>T (p.Gly193=)
|
rs1846584403
|
|
NM_000368.5(TSC1):c.580A>C (p.Met194Leu)
|
rs1588347278
|
|
NM_000368.5(TSC1):c.581T>C (p.Met194Thr)
|
rs746188529
|
|
NM_000368.5(TSC1):c.581T>G (p.Met194Arg)
|
rs746188529
|
|
NM_000368.5(TSC1):c.587C>T (p.Pro196Leu)
|
|
|
NM_000368.5(TSC1):c.58G>A (p.Gly20Ser)
|
rs2132295199
|
|
NM_000368.5(TSC1):c.58G>C (p.Gly20Arg)
|
rs2132295199
|
|
NM_000368.5(TSC1):c.597C>G (p.Phe199Leu)
|
rs202242304
|
|
NM_000368.5(TSC1):c.598G>T (p.Val200Phe)
|
rs118203410
|
|
NM_000368.5(TSC1):c.59G>A (p.Gly20Asp)
|
rs2132295150
|
|
NM_000368.5(TSC1):c.59G>C (p.Gly20Ala)
|
|
|
NM_000368.5(TSC1):c.5C>T (p.Ala2Val)
|
rs1588363746
|
|
NM_000368.5(TSC1):c.602C>T (p.Ser201Phe)
|
rs1564498038
|
|
NM_000368.5(TSC1):c.607T>G (p.Leu203Val)
|
|
|
NM_000368.5(TSC1):c.610C>T (p.Arg204Cys)
|
rs1060505021
|
|
NM_000368.5(TSC1):c.611G>C (p.Arg204Pro)
|
rs397514834
|
|
NM_000368.5(TSC1):c.611G>T (p.Arg204Leu)
|
|
|
NM_000368.5(TSC1):c.617A>G (p.His206Arg)
|
rs1846579352
|
|
NM_000368.5(TSC1):c.623G>C (p.Ser208Thr)
|
rs1264782606
|
|
NM_000368.5(TSC1):c.625A>C (p.Met209Leu)
|
|
|
NM_000368.5(TSC1):c.625A>T (p.Met209Leu)
|
rs754980229
|
|
NM_000368.5(TSC1):c.637C>G (p.Leu213Val)
|
rs999904570
|
|
NM_000368.5(TSC1):c.638T>C (p.Leu213Pro)
|
|
|
NM_000368.5(TSC1):c.640G>A (p.Glu214Lys)
|
rs1846577095
|
|
NM_000368.5(TSC1):c.642G>T (p.Glu214Asp)
|
rs904190788
|
|
NM_000368.5(TSC1):c.643A>G (p.Thr215Ala)
|
rs2132150727
|
|
NM_000368.5(TSC1):c.649G>C (p.Glu217Gln)
|
rs2132150199
|
|
NM_000368.5(TSC1):c.654A>C (p.Glu218Asp)
|
|
|
NM_000368.5(TSC1):c.659T>G (p.Val220Gly)
|
|
|
NM_000368.5(TSC1):c.65G>C (p.Arg22Pro)
|
rs141736779
|
|
NM_000368.5(TSC1):c.660_663+2del
|
|
|
NM_000368.5(TSC1):c.661A>G (p.Lys221Glu)
|
|
|
NM_000368.5(TSC1):c.663G>A (p.Lys221=)
|
rs868715706
|
|
NM_000368.5(TSC1):c.664-10A>G
|
rs1588345946
|
|
NM_000368.5(TSC1):c.664-14C>G
|
|
|
NM_000368.5(TSC1):c.664-6T>C
|
rs1588345922
|
|
NM_000368.5(TSC1):c.664C>G (p.Pro222Ala)
|
|
|
NM_000368.5(TSC1):c.667A>G (p.Met223Val)
|
rs2132138226
|
|
NM_000368.5(TSC1):c.671T>A (p.Met224Lys)
|
rs118203426
|
|
NM_000368.5(TSC1):c.671T>C (p.Met224Thr)
|
rs118203426
|
|
NM_000368.5(TSC1):c.676C>G (p.His226Asp)
|
rs2132137589
|
|
NM_000368.5(TSC1):c.676C>T (p.His226Tyr)
|
rs2132137589
|
|
NM_000368.5(TSC1):c.678T>A (p.His226Gln)
|
rs2132137496
|
|
NM_000368.5(TSC1):c.678T>G (p.His226Gln)
|
|
|
NM_000368.5(TSC1):c.679G>A (p.Val227Met)
|
|
|
NM_000368.5(TSC1):c.679G>C (p.Val227Leu)
|
rs1846548148
|
|
NM_000368.5(TSC1):c.680T>A (p.Val227Glu)
|
rs1264542706
|
|
NM_000368.5(TSC1):c.689A>G (p.His230Arg)
|
rs1588345775
|
|
NM_000368.5(TSC1):c.68A>G (p.Asp23Gly)
|
rs1847034874
|
|
NM_000368.5(TSC1):c.692C>G (p.Pro231Arg)
|
rs1322586198
|
|
NM_000368.5(TSC1):c.694G>A (p.Glu232Lys)
|
rs118203429
|
|
NM_000368.5(TSC1):c.694G>C (p.Glu232Gln)
|
|
|
NM_000368.5(TSC1):c.704C>T (p.Thr235Ile)
|
|
|
NM_000368.5(TSC1):c.708A>G (p.Gly236=)
|
rs2132135313
|
|
NM_000368.5(TSC1):c.710C>A (p.Ser237Tyr)
|
|
|
NM_000368.5(TSC1):c.710C>T (p.Ser237Phe)
|
|
|
NM_000368.5(TSC1):c.713A>G (p.Lys238Arg)
|
rs2132134825
|
|
NM_000368.5(TSC1):c.716A>G (p.Asp239Gly)
|
|
|
NM_000368.5(TSC1):c.722A>G (p.Glu241Gly)
|
|
|
NM_000368.5(TSC1):c.725T>C (p.Leu242Pro)
|
rs1554819388
|
|
NM_000368.5(TSC1):c.731C>T (p.Pro244Leu)
|
rs2132133357
|
|
NM_000368.5(TSC1):c.734G>C (p.Arg245Pro)
|
rs755859330
|
|
NM_000368.5(TSC1):c.737+4T>C
|
rs1487527846
|
|
NM_000368.5(TSC1):c.746G>A (p.Arg249Lys)
|
|
|
NM_000368.5(TSC1):c.749T>C (p.Leu250Ser)
|
rs118203447
|
|
NM_000368.5(TSC1):c.74T>G (p.Val25Gly)
|
|
|
NM_000368.5(TSC1):c.752A>G (p.Glu251Gly)
|
|
|
NM_000368.5(TSC1):c.755C>T (p.Thr252Ile)
|
rs1232152905
|
|
NM_000368.5(TSC1):c.759T>A (p.His253Gln)
|
rs748775797
|
|
NM_000368.5(TSC1):c.760G>A (p.Asp254Asn)
|
|
|
NM_000368.5(TSC1):c.761A>G (p.Asp254Gly)
|
rs1846018773
|
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NM_000368.5(TSC1):c.762T>A (p.Asp254Glu)
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rs780005416
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NM_000368.5(TSC1):c.771C>G (p.Ile257Met)
|
rs1060504854
|
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NM_000368.5(TSC1):c.775T>C (p.Cys259Arg)
|
rs1191767597
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NM_000368.5(TSC1):c.776G>A (p.Cys259Tyr)
|
rs1459280532
|
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NM_000368.5(TSC1):c.779C>T (p.Ala260Val)
|
rs758617649
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NM_000368.5(TSC1):c.790C>G (p.Leu264Val)
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|
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NM_000368.5(TSC1):c.797C>T (p.Pro266Leu)
|
rs1554817662
|
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NM_000368.5(TSC1):c.79G>C (p.Ala27Pro)
|
rs1847033606
|
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NM_000368.5(TSC1):c.805G>A (p.Ala269Thr)
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|
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NM_000368.5(TSC1):c.808T>G (p.Ser270Ala)
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|
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NM_000368.5(TSC1):c.811T>C (p.Tyr271His)
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NM_000368.5(TSC1):c.821G>C (p.Gly274Ala)
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|
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NM_000368.5(TSC1):c.824A>G (p.Tyr275Cys)
|
rs1554817636
|
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NM_000368.5(TSC1):c.827C>T (p.Ser276Phe)
|
rs1846012269
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NM_000368.5(TSC1):c.82G>C (p.Val28Leu)
|
rs1588363318
|
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NM_000368.5(TSC1):c.837C>A (p.His279Gln)
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|
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NM_000368.5(TSC1):c.838C>G (p.Gln280Glu)
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rs118203458
|
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NM_000368.5(TSC1):c.840A>C (p.Gln280His)
|
rs1171852730
|
|
NM_000368.5(TSC1):c.841A>C (p.Ile281Leu)
|
rs2131999104
|
|
NM_000368.5(TSC1):c.844T>G (p.Ser282Ala)
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|
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NM_000368.5(TSC1):c.845C>T (p.Ser282Leu)
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rs118203459
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NM_000368.5(TSC1):c.848C>T (p.Ala283Val)
|
rs1554817613
|
|
NM_000368.5(TSC1):c.850C>A (p.Arg284Ser)
|
rs140544652
|
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NM_000368.5(TSC1):c.851G>T (p.Arg284Leu)
|
rs151309813
|
|
NM_000368.5(TSC1):c.856C>T (p.Pro286Ser)
|
rs1047485135
|
|
NM_000368.5(TSC1):c.862C>G (p.Arg288Gly)
|
rs770653972
|
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NM_000368.5(TSC1):c.863G>C (p.Arg288Pro)
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|
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NM_000368.5(TSC1):c.869C>T (p.Ala290Val)
|
rs1846007897
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NM_000368.5(TSC1):c.874G>A (p.Val292Ile)
|
rs1588326825
|
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NM_000368.5(TSC1):c.877A>G (p.Thr293Ala)
|
rs2131996111
|
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NM_000368.5(TSC1):c.878C>G (p.Thr293Ser)
|
rs756681916
|
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NM_000368.5(TSC1):c.878C>T (p.Thr293Ile)
|
rs756681916
|
|
NM_000368.5(TSC1):c.880A>T (p.Thr294Ser)
|
rs1588326742
|
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NM_000368.5(TSC1):c.881C>A (p.Thr294Asn)
|
rs878853969
|
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NM_000368.5(TSC1):c.881C>T (p.Thr294Ile)
|
rs878853969
|
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NM_000368.5(TSC1):c.883A>G (p.Ser295Gly)
|
rs1588326679
|
|
NM_000368.5(TSC1):c.883A>T (p.Ser295Cys)
|
rs1588326679
|
|
NM_000368.5(TSC1):c.884G>T (p.Ser295Ile)
|
|
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NM_000368.5(TSC1):c.885C>G (p.Ser295Arg)
|
rs973115696
|
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NM_000368.5(TSC1):c.887C>T (p.Pro296Leu)
|
rs1846005037
|
|
NM_000368.5(TSC1):c.890A>C (p.Tyr297Ser)
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|
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NM_000368.5(TSC1):c.892G>A (p.Ala298Thr)
|
rs1846004547
|
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NM_000368.5(TSC1):c.895G>A (p.Asp299Asn)
|
|
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NM_000368.5(TSC1):c.898A>G (p.Thr300Ala)
|
rs796053456
|
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NM_000368.5(TSC1):c.902A>G (p.Gln301Arg)
|
rs1389512342
|
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NM_000368.5(TSC1):c.910T>A (p.Tyr304Asn)
|
rs1588326467
|
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NM_000368.5(TSC1):c.911A>G (p.Tyr304Cys)
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|
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NM_000368.5(TSC1):c.913+18T>C
|
|
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NM_000368.5(TSC1):c.913+3A>G
|
rs1846002381
|
|
NM_000368.5(TSC1):c.913+4A>C
|
rs1178304676
|
|
NM_000368.5(TSC1):c.914-3T>C
|
rs781756453
|
|
NM_000368.5(TSC1):c.916T>C (p.Cys306Arg)
|
rs34876281
|
|
NM_000368.5(TSC1):c.917G>T (p.Cys306Phe)
|
|
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NM_000368.5(TSC1):c.91G>C (p.Glu31Gln)
|
rs1847032440
|
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NM_000368.5(TSC1):c.922A>G (p.Thr308Ala)
|
rs1845965349
|
|
NM_000368.5(TSC1):c.923C>A (p.Thr308Asn)
|
rs1554817432
|
|
NM_000368.5(TSC1):c.929C>T (p.Thr310Ile)
|
rs1588324860
|
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NM_000368.5(TSC1):c.931C>G (p.Pro311Ala)
|
rs1332186256
|
|
NM_000368.5(TSC1):c.931C>T (p.Pro311Ser)
|
|
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NM_000368.5(TSC1):c.932C>A (p.Pro311His)
|
rs776158460
|
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NM_000368.5(TSC1):c.932C>T (p.Pro311Leu)
|
rs776158460
|
|
NM_000368.5(TSC1):c.934T>C (p.Tyr312His)
|
rs1845964220
|
|
NM_000368.5(TSC1):c.935A>C (p.Tyr312Ser)
|
rs1588324803
|
|
NM_000368.5(TSC1):c.935A>G (p.Tyr312Cys)
|
rs1588324803
|
|
NM_000368.5(TSC1):c.93G>T (p.Glu31Asp)
|
rs781059342
|
|
NM_000368.5(TSC1):c.940A>G (p.Thr314Ala)
|
rs1845963270
|
|
NM_000368.5(TSC1):c.941C>G (p.Thr314Arg)
|
|
|
NM_000368.5(TSC1):c.947G>T (p.Arg316Leu)
|
rs375956049
|
|
NM_000368.5(TSC1):c.949C>A (p.Leu317Met)
|
rs1588324686
|
|
NM_000368.5(TSC1):c.952A>T (p.Met318Leu)
|
rs1392501159
|
|
NM_000368.5(TSC1):c.955T>G (p.Leu319Val)
|
rs1845961614
|
|
NM_000368.5(TSC1):c.957G>C (p.Leu319Phe)
|
|
|
NM_000368.5(TSC1):c.95A>G (p.Asn32Ser)
|
rs1222555421
|
|
NM_000368.5(TSC1):c.962A>C (p.Asn321Thr)
|
|
|
NM_000368.5(TSC1):c.963T>A (p.Asn321Lys)
|
|
|
NM_000368.5(TSC1):c.974A>G (p.Gln325Arg)
|
rs1564488890
|
|
NM_000368.5(TSC1):c.975G>T (p.Gln325His)
|
rs1554817398
|
|
NM_000368.5(TSC1):c.979C>T (p.Pro327Ser)
|
|
|
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe)
|
rs1847031671
|
|
NM_000368.5(TSC1):c.980C>T (p.Pro327Leu)
|
|
|
NM_000368.5(TSC1):c.986C>T (p.Thr329Ile)
|
|
|
NM_000368.5(TSC1):c.988C>A (p.Leu330Met)
|
rs1060503222
|
|
NM_000368.5(TSC1):c.989T>G (p.Leu330Arg)
|
rs1588324325
|
|
NM_000368.5(TSC1):c.992G>A (p.Ser331Asn)
|
rs2131976184
|
|
NM_000368.5(TSC1):c.993T>A (p.Ser331Arg)
|
rs1588324306
|
|
NM_000368.5(TSC1):c.995C>T (p.Ser332Phe)
|
rs2131975937
|
|
NM_001162426.2(TSC1):c.2623-4_2623-3insTG
|
rs2131640739
|
|