NM_000548.5(TSC2):c.5200G>A (p.Asp1734Asn)
|
rs751990617
|
0.00013
|
NM_000548.5(TSC2):c.*5G>A
|
rs201342697
|
0.00010
|
NM_000548.5(TSC2):c.4351C>G (p.Arg1451Gly)
|
rs369553241
|
0.00006
|
NM_000548.5(TSC2):c.2995A>T (p.Ser999Cys)
|
rs777089012
|
0.00005
|
NM_000548.5(TSC2):c.1730C>T (p.Thr577Ile)
|
rs770895919
|
0.00004
|
NM_000548.5(TSC2):c.225+5G>T
|
rs778371172
|
0.00004
|
NM_000548.5(TSC2):c.2668C>T (p.His890Tyr)
|
rs145258407
|
0.00004
|
NM_000548.5(TSC2):c.2785G>A (p.Glu929Lys)
|
rs45517268
|
0.00004
|
NM_000548.5(TSC2):c.3192C>A (p.Asn1064Lys)
|
rs201670791
|
0.00004
|
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val)
|
rs753907159
|
0.00004
|
NM_000548.5(TSC2):c.3851A>G (p.Gln1284Arg)
|
rs944693159
|
0.00004
|
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu)
|
rs749326176
|
0.00004
|
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)
|
rs45517148
|
0.00003
|
NM_000548.5(TSC2):c.1798C>T (p.His600Tyr)
|
rs775390128
|
0.00003
|
NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys)
|
rs45437797
|
0.00003
|
NM_000548.5(TSC2):c.1991C>T (p.Ser664Phe)
|
rs991714565
|
0.00003
|
NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu)
|
rs370553131
|
0.00003
|
NM_000548.5(TSC2):c.2884C>G (p.Pro962Ala)
|
rs1477697117
|
0.00003
|
NM_000548.5(TSC2):c.3158C>T (p.Ala1053Val)
|
rs760214724
|
0.00003
|
NM_000548.5(TSC2):c.3252C>G (p.Asp1084Glu)
|
rs45517286
|
0.00003
|
NM_000548.5(TSC2):c.3254C>T (p.Ser1085Leu)
|
rs45517287
|
0.00003
|
NM_000548.5(TSC2):c.325G>A (p.Val109Met)
|
rs369932305
|
0.00003
|
NM_000548.5(TSC2):c.3281C>G (p.Ser1094Trp)
|
rs397514887
|
0.00003
|
NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met)
|
rs373481458
|
0.00003
|
NM_000548.5(TSC2):c.4142C>A (p.Pro1381His)
|
rs397515264
|
0.00003
|
NM_000548.5(TSC2):c.431A>G (p.Lys144Arg)
|
rs769286175
|
0.00003
|
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu)
|
rs45517341
|
0.00003
|
NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn)
|
rs45517343
|
0.00003
|
NM_000548.5(TSC2):c.4549C>A (p.Pro1517Thr)
|
rs1057522800
|
0.00003
|
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp)
|
rs1200837034
|
0.00003
|
NM_000548.5(TSC2):c.5161-5C>A
|
rs775534948
|
0.00003
|
NM_000548.5(TSC2):c.5362T>G (p.Tyr1788Asp)
|
rs904411432
|
0.00003
|
NM_000548.5(TSC2):c.673G>A (p.Val225Met)
|
rs142919353
|
0.00003
|
NM_000548.5(TSC2):c.828G>A (p.Met276Ile)
|
rs1318274503
|
0.00003
|
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp)
|
rs201144475
|
0.00003
|
NM_000548.5(TSC2):c.1093A>G (p.Ile365Val)
|
rs370403197
|
0.00002
|
NM_000548.5(TSC2):c.1309G>C (p.Ala437Pro)
|
rs764967942
|
0.00002
|
NM_000548.5(TSC2):c.1883G>A (p.Arg628His)
|
rs774895427
|
0.00002
|
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys)
|
rs1319342312
|
0.00002
|
NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser)
|
rs764840082
|
0.00002
|
NM_000548.5(TSC2):c.2027G>T (p.Gly676Val)
|
rs754556513
|
0.00002
|
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg)
|
rs1489623582
|
0.00002
|
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile)
|
rs767770242
|
0.00002
|
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln)
|
rs766442736
|
0.00002
|
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val)
|
rs886042145
|
0.00002
|
NM_000548.5(TSC2):c.2437G>A (p.Val813Met)
|
rs375030314
|
0.00002
|
NM_000548.5(TSC2):c.2534A>G (p.Glu845Gly)
|
rs764608837
|
0.00002
|
NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu)
|
rs138527121
|
0.00002
|
NM_000548.5(TSC2):c.2948C>G (p.Ser983Cys)
|
rs759786102
|
0.00002
|
NM_000548.5(TSC2):c.2962C>T (p.Arg988Cys)
|
rs763047420
|
0.00002
|
NM_000548.5(TSC2):c.2968A>G (p.Arg990Gly)
|
rs753730009
|
0.00002
|
NM_000548.5(TSC2):c.298G>A (p.Ala100Thr)
|
rs369314296
|
0.00002
|
NM_000548.5(TSC2):c.3028C>G (p.Gln1010Glu)
|
rs45514100
|
0.00002
|
NM_000548.5(TSC2):c.3226G>A (p.Gly1076Arg)
|
rs747910305
|
0.00002
|
NM_000548.5(TSC2):c.3232C>T (p.Arg1078Trp)
|
rs78956195
|
0.00002
|
NM_000548.5(TSC2):c.3233G>A (p.Arg1078Gln)
|
rs368095502
|
0.00002
|
NM_000548.5(TSC2):c.3285-3C>A
|
rs781023043
|
0.00002
|
NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu)
|
rs778069675
|
0.00002
|
NM_000548.5(TSC2):c.3520C>T (p.Arg1174Trp)
|
rs529298825
|
0.00002
|
NM_000548.5(TSC2):c.3730C>T (p.His1244Tyr)
|
rs993614997
|
0.00002
|
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys)
|
rs1020561347
|
0.00002
|
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val)
|
rs749367382
|
0.00002
|
NM_000548.5(TSC2):c.3928G>A (p.Val1310Met)
|
rs1046522975
|
0.00002
|
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys)
|
rs397515035
|
0.00002
|
NM_000548.5(TSC2):c.4057G>A (p.Val1353Ile)
|
rs373982157
|
0.00002
|
NM_000548.5(TSC2):c.4082G>A (p.Arg1361Gln)
|
rs762798984
|
0.00002
|
NM_000548.5(TSC2):c.4090T>G (p.Ser1364Ala)
|
rs756957699
|
0.00002
|
NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala)
|
rs755461310
|
0.00002
|
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln)
|
rs587778738
|
0.00002
|
NM_000548.5(TSC2):c.4303G>A (p.Glu1435Lys)
|
rs1441136255
|
0.00002
|
NM_000548.5(TSC2):c.4343G>A (p.Ser1448Asn)
|
rs776137955
|
0.00002
|
NM_000548.5(TSC2):c.4403C>T (p.Pro1468Leu)
|
rs762423563
|
0.00002
|
NM_000548.5(TSC2):c.4552A>G (p.Ile1518Val)
|
rs764903148
|
0.00002
|
NM_000548.5(TSC2):c.4585C>T (p.Arg1529Trp)
|
rs1051502900
|
0.00002
|
NM_000548.5(TSC2):c.4663-3C>T
|
rs397514930
|
0.00002
|
NM_000548.5(TSC2):c.4823A>G (p.Tyr1608Cys)
|
rs759795928
|
0.00002
|
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)
|
rs137854123
|
0.00002
|
NM_000548.5(TSC2):c.*4C>T
|
rs368282661
|
0.00001
|
NM_000548.5(TSC2):c.1004C>T (p.Ser335Phe)
|
rs45517144
|
0.00001
|
NM_000548.5(TSC2):c.1007A>G (p.Tyr336Cys)
|
rs780378198
|
0.00001
|
NM_000548.5(TSC2):c.1024A>G (p.Ile342Val)
|
rs1060500913
|
0.00001
|
NM_000548.5(TSC2):c.1039A>G (p.Lys347Glu)
|
rs1337295642
|
0.00001
|
NM_000548.5(TSC2):c.1046A>G (p.Tyr349Cys)
|
rs1060500916
|
0.00001
|
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala)
|
rs757113497
|
0.00001
|
NM_000548.5(TSC2):c.1075G>A (p.Asp359Asn)
|
rs2086534058
|
0.00001
|
NM_000548.5(TSC2):c.1099C>T (p.Arg367Trp)
|
rs757844109
|
0.00001
|
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile)
|
rs758511419
|
0.00001
|
NM_000548.5(TSC2):c.1154A>G (p.His385Arg)
|
rs757353933
|
0.00001
|
NM_000548.5(TSC2):c.1172T>C (p.Val391Ala)
|
rs1414372155
|
0.00001
|
NM_000548.5(TSC2):c.1186G>A (p.Asp396Asn)
|
rs1596303501
|
0.00001
|
NM_000548.5(TSC2):c.1187A>T (p.Asp396Val)
|
rs1365616275
|
0.00001
|
NM_000548.5(TSC2):c.11C>T (p.Pro4Leu)
|
rs147206318
|
0.00001
|
NM_000548.5(TSC2):c.1213G>C (p.Glu405Gln)
|
rs765622787
|
0.00001
|
NM_000548.5(TSC2):c.1273A>T (p.Asn425Tyr)
|
rs1186443300
|
0.00001
|
NM_000548.5(TSC2):c.1284C>T (p.Ser428=)
|
rs1325874616
|
0.00001
|
NM_000548.5(TSC2):c.131T>C (p.Ile44Thr)
|
rs1190102918
|
0.00001
|
NM_000548.5(TSC2):c.1342C>G (p.Leu448Val)
|
rs1413875392
|
0.00001
|
NM_000548.5(TSC2):c.134T>G (p.Leu45Arg)
|
rs1383831944
|
0.00001
|
NM_000548.5(TSC2):c.1352G>A (p.Arg451Lys)
|
rs749780677
|
0.00001
|
NM_000548.5(TSC2):c.1367A>G (p.Glu456Gly)
|
rs876659386
|
0.00001
|
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln)
|
rs878854077
|
0.00001
|
NM_000548.5(TSC2):c.1389C>G (p.Ile463Met)
|
rs1188230416
|
0.00001
|
NM_000548.5(TSC2):c.1393G>A (p.Val465Met)
|
rs758874054
|
0.00001
|
NM_000548.5(TSC2):c.1423A>G (p.Ile475Val)
|
rs1196710568
|
0.00001
|
NM_000548.5(TSC2):c.1463T>C (p.Val488Ala)
|
rs760205499
|
0.00001
|
NM_000548.5(TSC2):c.1490C>A (p.Pro497His)
|
rs1484576810
|
0.00001
|
NM_000548.5(TSC2):c.1504C>T (p.His502Tyr)
|
rs1567437505
|
0.00001
|
NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln)
|
rs376285784
|
0.00001
|
NM_000548.5(TSC2):c.1562C>G (p.Thr521Arg)
|
rs1378972928
|
0.00001
|
NM_000548.5(TSC2):c.1569C>G (p.His523Gln)
|
rs1420211177
|
0.00001
|
NM_000548.5(TSC2):c.1600-5C>G
|
rs1426258365
|
0.00001
|
NM_000548.5(TSC2):c.1603A>T (p.Met535Leu)
|
rs1309598467
|
0.00001
|
NM_000548.5(TSC2):c.1610G>A (p.Arg537His)
|
rs372681603
|
0.00001
|
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg)
|
rs752953762
|
0.00001
|
NM_000548.5(TSC2):c.1624C>T (p.Pro542Ser)
|
rs891347695
|
0.00001
|
NM_000548.5(TSC2):c.1654G>A (p.Ala552Thr)
|
rs777121421
|
0.00001
|
NM_000548.5(TSC2):c.1658A>G (p.Tyr553Cys)
|
rs1319281731
|
0.00001
|
NM_000548.5(TSC2):c.1676A>T (p.Asp559Val)
|
rs767619776
|
0.00001
|
NM_000548.5(TSC2):c.1678G>A (p.Val560Met)
|
rs141631268
|
0.00001
|
NM_000548.5(TSC2):c.1685C>T (p.Thr562Ile)
|
rs1463643429
|
0.00001
|
NM_000548.5(TSC2):c.169C>T (p.Arg57Cys)
|
rs1430159201
|
0.00001
|
NM_000548.5(TSC2):c.170G>A (p.Arg57His)
|
rs397514949
|
0.00001
|
NM_000548.5(TSC2):c.1718C>T (p.Thr573Ile)
|
rs773304374
|
0.00001
|
NM_000548.5(TSC2):c.1748C>T (p.Ala583Val)
|
rs763863196
|
0.00001
|
NM_000548.5(TSC2):c.175C>T (p.Arg59Trp)
|
rs1015282988
|
0.00001
|
NM_000548.5(TSC2):c.1765A>T (p.Met589Leu)
|
rs1567457356
|
0.00001
|
NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly)
|
rs910068556
|
0.00001
|
NM_000548.5(TSC2):c.1813C>G (p.Pro605Ala)
|
rs1295352648
|
0.00001
|
NM_000548.5(TSC2):c.1823G>C (p.Ser608Thr)
|
rs753235037
|
0.00001
|
NM_000548.5(TSC2):c.1848C>G (p.Asp616Glu)
|
rs1383525805
|
0.00001
|
NM_000548.5(TSC2):c.1870G>A (p.Asp624Asn)
|
rs1334081822
|
0.00001
|
NM_000548.5(TSC2):c.1897A>C (p.Asn633His)
|
rs1462660984
|
0.00001
|
NM_000548.5(TSC2):c.1925C>G (p.Pro642Arg)
|
rs1408228669
|
0.00001
|
NM_000548.5(TSC2):c.193T>C (p.Cys65Arg)
|
rs1060500965
|
0.00001
|
NM_000548.5(TSC2):c.1952C>T (p.Pro651Leu)
|
rs1300730043
|
0.00001
|
NM_000548.5(TSC2):c.1976C>G (p.Thr659Ser)
|
rs755847664
|
0.00001
|
NM_000548.5(TSC2):c.1991C>G (p.Ser664Cys)
|
rs991714565
|
0.00001
|
NM_000548.5(TSC2):c.199G>A (p.Val67Ile)
|
rs774506901
|
0.00001
|
NM_000548.5(TSC2):c.2011G>A (p.Gly671Ser)
|
rs1268191908
|
0.00001
|
NM_000548.5(TSC2):c.2014C>T (p.Pro672Ser)
|
rs1262368552
|
0.00001
|
NM_000548.5(TSC2):c.202G>A (p.Ala68Thr)
|
rs767626323
|
0.00001
|
NM_000548.5(TSC2):c.2042T>C (p.Leu681Pro)
|
rs878854079
|
0.00001
|
NM_000548.5(TSC2):c.2045G>C (p.Gly682Ala)
|
rs1567465004
|
0.00001
|
NM_000548.5(TSC2):c.2050G>A (p.Val684Met)
|
rs779275341
|
0.00001
|
NM_000548.5(TSC2):c.2054C>T (p.Pro685Leu)
|
rs959165669
|
0.00001
|
NM_000548.5(TSC2):c.2097+5G>C
|
rs977777731
|
0.00001
|
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn)
|
rs766200310
|
0.00001
|
NM_000548.5(TSC2):c.2144A>C (p.Glu715Ala)
|
rs763351805
|
0.00001
|
NM_000548.5(TSC2):c.2147C>T (p.Ser716Phe)
|
rs781153452
|
0.00001
|
NM_000548.5(TSC2):c.216A>C (p.Lys72Asn)
|
rs1201047547
|
0.00001
|
NM_000548.5(TSC2):c.2196G>C (p.Gln732His)
|
rs765646245
|
0.00001
|
NM_000548.5(TSC2):c.2219T>C (p.Met740Thr)
|
rs757347786
|
0.00001
|
NM_000548.5(TSC2):c.2220+5C>T
|
rs1164941572
|
0.00001
|
NM_000548.5(TSC2):c.2248C>T (p.Leu750Phe)
|
rs754885213
|
0.00001
|
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln)
|
rs749593050
|
0.00001
|
NM_000548.5(TSC2):c.2287C>T (p.His763Tyr)
|
rs758234726
|
0.00001
|
NM_000548.5(TSC2):c.229G>A (p.Ala77Thr)
|
rs777459404
|
0.00001
|
NM_000548.5(TSC2):c.2312C>T (p.Thr771Ile)
|
rs886051790
|
0.00001
|
NM_000548.5(TSC2):c.2330A>G (p.His777Arg)
|
rs759528809
|
0.00001
|
NM_000548.5(TSC2):c.2356-4G>A
|
rs201156748
|
0.00001
|
NM_000548.5(TSC2):c.2357G>A (p.Arg786His)
|
rs796053511
|
0.00001
|
NM_000548.5(TSC2):c.2364G>A (p.Met788Ile)
|
rs773786955
|
0.00001
|
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe)
|
rs758961134
|
0.00001
|
NM_000548.5(TSC2):c.2395C>T (p.Arg799Cys)
|
rs1366556255
|
0.00001
|
NM_000548.5(TSC2):c.2398T>C (p.Cys800Arg)
|
rs776930735
|
0.00001
|
NM_000548.5(TSC2):c.2413G>A (p.Val805Ile)
|
rs768683470
|
0.00001
|
NM_000548.5(TSC2):c.2417T>C (p.Val806Ala)
|
rs1285249923
|
0.00001
|
NM_000548.5(TSC2):c.2465C>T (p.Ala822Val)
|
rs936484229
|
0.00001
|
NM_000548.5(TSC2):c.2492C>T (p.Thr831Met)
|
rs774380711
|
0.00001
|
NM_000548.5(TSC2):c.2515A>G (p.Met839Val)
|
rs876660457
|
0.00001
|
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala)
|
rs781713438
|
0.00001
|
NM_000548.5(TSC2):c.2561C>T (p.Pro854Leu)
|
rs1180511535
|
0.00001
|
NM_000548.5(TSC2):c.257C>T (p.Ala86Val)
|
rs1369594860
|
0.00001
|
NM_000548.5(TSC2):c.2592G>C (p.Gln864His)
|
rs763099064
|
0.00001
|
NM_000548.5(TSC2):c.2702G>A (p.Arg901His)
|
rs1273957629
|
0.00001
|
NM_000548.5(TSC2):c.2719G>T (p.Asp907Tyr)
|
rs1287273870
|
0.00001
|
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys)
|
rs774758044
|
0.00001
|
NM_000548.5(TSC2):c.2734A>G (p.Ile912Val)
|
rs748461293
|
0.00001
|
NM_000548.5(TSC2):c.2743-4C>T
|
rs1258692002
|
0.00001
|
NM_000548.5(TSC2):c.2749C>T (p.Arg917Trp)
|
rs781587135
|
0.00001
|
NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser)
|
rs780057014
|
0.00001
|
NM_000548.5(TSC2):c.2759T>C (p.Val920Ala)
|
rs749383639
|
0.00001
|
NM_000548.5(TSC2):c.2768C>G (p.Ser923Cys)
|
rs587778731
|
0.00001
|
NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn)
|
rs144329595
|
0.00001
|
NM_000548.5(TSC2):c.2798T>G (p.Phe933Cys)
|
rs45517269
|
0.00001
|
NM_000548.5(TSC2):c.2803G>A (p.Ala935Thr)
|
rs979456797
|
0.00001
|
NM_000548.5(TSC2):c.2837+4C>T
|
rs544409858
|
0.00001
|
NM_000548.5(TSC2):c.2861A>G (p.Lys954Arg)
|
rs397515191
|
0.00001
|
NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys)
|
rs147523833
|
0.00001
|
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu)
|
rs370415754
|
0.00001
|
NM_000548.5(TSC2):c.2884C>T (p.Pro962Ser)
|
rs1477697117
|
0.00001
|
NM_000548.5(TSC2):c.2896T>C (p.Phe966Leu)
|
rs1567490884
|
0.00001
|
NM_000548.5(TSC2):c.2901G>T (p.Lys967Asn)
|
rs1168031047
|
0.00001
|
NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys)
|
rs780981335
|
0.00001
|
NM_000548.5(TSC2):c.2927G>A (p.Arg976Gln)
|
rs779832805
|
0.00001
|
NM_000548.5(TSC2):c.2932C>T (p.Arg978Cys)
|
rs768241596
|
0.00001
|
NM_000548.5(TSC2):c.2954A>G (p.His985Arg)
|
rs1330306605
|
0.00001
|
NM_000548.5(TSC2):c.2956G>A (p.Val986Met)
|
rs765489754
|
0.00001
|
NM_000548.5(TSC2):c.2966+4G>T
|
rs1235253082
|
0.00001
|
NM_000548.5(TSC2):c.2970G>T (p.Arg990Ser)
|
rs1317631053
|
0.00001
|
NM_000548.5(TSC2):c.2971A>G (p.Ile991Val)
|
rs369524855
|
0.00001
|
NM_000548.5(TSC2):c.3002G>T (p.Gly1001Val)
|
rs368878445
|
0.00001
|
NM_000548.5(TSC2):c.301G>A (p.Val101Met)
|
rs878854089
|
0.00001
|
NM_000548.5(TSC2):c.3119C>T (p.Ala1040Val)
|
rs2089807202
|
0.00001
|
NM_000548.5(TSC2):c.3253T>C (p.Ser1085Pro)
|
rs767655384
|
0.00001
|
NM_000548.5(TSC2):c.3286T>C (p.Ser1096Pro)
|
rs755815612
|
0.00001
|
NM_000548.5(TSC2):c.3317A>T (p.Lys1106Met)
|
rs764113584
|
0.00001
|
NM_000548.5(TSC2):c.3328G>C (p.Ala1110Pro)
|
rs1260370117
|
0.00001
|
NM_000548.5(TSC2):c.334C>G (p.Gln112Glu)
|
rs397515308
|
0.00001
|
NM_000548.5(TSC2):c.3368G>A (p.Gly1123Glu)
|
rs1060500968
|
0.00001
|
NM_000548.5(TSC2):c.337-3T>C
|
rs770515822
|
0.00001
|
NM_000548.5(TSC2):c.3373C>T (p.Arg1125Trp)
|
rs747420910
|
0.00001
|
NM_000548.5(TSC2):c.3385C>T (p.Arg1129Cys)
|
rs1028039505
|
0.00001
|
NM_000548.5(TSC2):c.3388T>G (p.Ser1130Ala)
|
rs770048768
|
0.00001
|
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val)
|
rs775639244
|
0.00001
|
NM_000548.5(TSC2):c.3392T>C (p.Met1131Thr)
|
rs763122999
|
0.00001
|
NM_000548.5(TSC2):c.3401G>A (p.Gly1134Asp)
|
rs766223343
|
0.00001
|
NM_000548.5(TSC2):c.3404A>G (p.His1135Arg)
|
rs1309968292
|
0.00001
|
NM_000548.5(TSC2):c.3415G>A (p.Val1139Ile)
|
rs759174655
|
0.00001
|
NM_000548.5(TSC2):c.3461C>T (p.Thr1154Ile)
|
rs377137483
|
0.00001
|
NM_000548.5(TSC2):c.3484C>T (p.Pro1162Ser)
|
rs895935495
|
0.00001
|
NM_000548.5(TSC2):c.3487G>T (p.Ala1163Ser)
|
rs560522093
|
0.00001
|
NM_000548.5(TSC2):c.3497C>T (p.Pro1166Leu)
|
rs762650392
|
0.00001
|
NM_000548.5(TSC2):c.352G>T (p.Val118Phe)
|
rs878854094
|
0.00001
|
NM_000548.5(TSC2):c.3532C>G (p.Gln1178Glu)
|
rs45517297
|
0.00001
|
NM_000548.5(TSC2):c.3535G>A (p.Glu1179Lys)
|
rs45483391
|
0.00001
|
NM_000548.5(TSC2):c.3551C>A (p.Ala1184Glu)
|
rs1060500939
|
0.00001
|
NM_000548.5(TSC2):c.3554C>T (p.Ala1185Val)
|
rs1057521812
|
0.00001
|
NM_000548.5(TSC2):c.364C>T (p.Leu122Phe)
|
rs1175373447
|
0.00001
|
NM_000548.5(TSC2):c.3671A>T (p.Asn1224Ile)
|
rs1434962054
|
0.00001
|
NM_000548.5(TSC2):c.3675C>T (p.Asn1225=)
|
rs1483188996
|
0.00001
|
NM_000548.5(TSC2):c.3718C>T (p.Arg1240Cys)
|
rs137854353
|
0.00001
|
NM_000548.5(TSC2):c.3734G>A (p.Arg1245Gln)
|
rs746588726
|
0.00001
|
NM_000548.5(TSC2):c.3739A>G (p.Thr1247Ala)
|
rs369961807
|
0.00001
|
NM_000548.5(TSC2):c.375G>C (p.Lys125Asn)
|
rs778928295
|
0.00001
|
NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser)
|
rs1233661099
|
0.00001
|
NM_000548.5(TSC2):c.3788C>T (p.Pro1263Leu)
|
rs1057523452
|
0.00001
|
NM_000548.5(TSC2):c.3809A>G (p.Asn1270Ser)
|
rs1304251276
|
0.00001
|
NM_000548.5(TSC2):c.3815-1G>A
|
rs2090256621
|
0.00001
|
NM_000548.5(TSC2):c.3834G>A (p.Leu1278=)
|
rs766029525
|
0.00001
|
NM_000548.5(TSC2):c.384G>T (p.Lys128Asn)
|
rs748095129
|
0.00001
|
NM_000548.5(TSC2):c.3866G>A (p.Arg1289Lys)
|
rs900604900
|
0.00001
|
NM_000548.5(TSC2):c.3893T>C (p.Val1298Ala)
|
rs758677443
|
0.00001
|
NM_000548.5(TSC2):c.3899T>A (p.Met1300Lys)
|
rs1349341137
|
0.00001
|
NM_000548.5(TSC2):c.3940C>G (p.Pro1314Ala)
|
rs771499212
|
0.00001
|
NM_000548.5(TSC2):c.3941C>T (p.Pro1314Leu)
|
rs1217156011
|
0.00001
|
NM_000548.5(TSC2):c.3963G>C (p.Glu1321Asp)
|
rs587778737
|
0.00001
|
NM_000548.5(TSC2):c.3985C>T (p.Arg1329Cys)
|
rs747695245
|
0.00001
|
NM_000548.5(TSC2):c.3997T>G (p.Tyr1333Asp)
|
rs901222751
|
0.00001
|
NM_000548.5(TSC2):c.4001G>A (p.Ser1334Asn)
|
rs1060500964
|
0.00001
|
NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe)
|
rs200411484
|
0.00001
|
NM_000548.5(TSC2):c.4040T>C (p.Leu1347Pro)
|
rs1221929408
|
0.00001
|
NM_000548.5(TSC2):c.4067G>A (p.Gly1356Asp)
|
rs747104864
|
0.00001
|
NM_000548.5(TSC2):c.406C>T (p.Leu136Phe)
|
rs1350803240
|
0.00001
|
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala)
|
rs878854104
|
0.00001
|
NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys)
|
rs397514997
|
0.00001
|
NM_000548.5(TSC2):c.4115T>C (p.Val1372Ala)
|
rs1300203299
|
0.00001
|
NM_000548.5(TSC2):c.4192C>G (p.Leu1398Val)
|
rs1060500928
|
0.00001
|
NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser)
|
rs778147657
|
0.00001
|
NM_000548.5(TSC2):c.4210A>G (p.Lys1404Glu)
|
rs1384101814
|
0.00001
|
NM_000548.5(TSC2):c.4232G>A (p.Ser1411Asn)
|
rs1267811475
|
0.00001
|
NM_000548.5(TSC2):c.4246G>T (p.Ala1416Ser)
|
rs1001211672
|
0.00001
|
NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg)
|
rs562443546
|
0.00001
|
NM_000548.5(TSC2):c.4257G>C (p.Gln1419His)
|
rs1403321543
|
0.00001
|
NM_000548.5(TSC2):c.4262G>A (p.Gly1421Glu)
|
rs1368001965
|
0.00001
|
NM_000548.5(TSC2):c.4282G>A (p.Ala1428Thr)
|
rs764533757
|
0.00001
|
NM_000548.5(TSC2):c.4313G>A (p.Arg1438Gln)
|
rs45448791
|
0.00001
|
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala)
|
rs1459518095
|
0.00001
|
NM_000548.5(TSC2):c.4331C>T (p.Pro1444Leu)
|
rs550084361
|
0.00001
|
NM_000548.5(TSC2):c.4348C>G (p.Pro1450Ala)
|
rs376381196
|
0.00001
|
NM_000548.5(TSC2):c.434C>T (p.Ala145Val)
|
rs1596265255
|
0.00001
|
NM_000548.5(TSC2):c.4385C>G (p.Thr1462Ser)
|
rs373018205
|
0.00001
|
NM_000548.5(TSC2):c.4430G>A (p.Arg1477Lys)
|
rs752693719
|
0.00001
|
NM_000548.5(TSC2):c.4454C>T (p.Thr1485Ile)
|
rs772667717
|
0.00001
|
NM_000548.5(TSC2):c.4457C>T (p.Ala1486Val)
|
rs773527337
|
0.00001
|
NM_000548.5(TSC2):c.4460C>G (p.Ser1487Cys)
|
rs766916450
|
0.00001
|
NM_000548.5(TSC2):c.446A>G (p.Asn149Ser)
|
rs1029118280
|
0.00001
|
NM_000548.5(TSC2):c.4470G>C (p.Glu1490Asp)
|
rs1221986548
|
0.00001
|
NM_000548.5(TSC2):c.4516C>T (p.His1506Tyr)
|
rs1173459869
|
0.00001
|
NM_000548.5(TSC2):c.4534G>A (p.Asp1512Asn)
|
rs774441486
|
0.00001
|
NM_000548.5(TSC2):c.4550C>T (p.Pro1517Leu)
|
rs1279603512
|
0.00001
|
NM_000548.5(TSC2):c.4561C>T (p.Pro1521Ser)
|
rs1468281970
|
0.00001
|
NM_000548.5(TSC2):c.4568A>G (p.Glu1523Gly)
|
rs777406873
|
0.00001
|
NM_000548.5(TSC2):c.4570-1G>A
|
rs777985056
|
0.00001
|
NM_000548.5(TSC2):c.457A>G (p.Ile153Val)
|
rs1555497700
|
0.00001
|
NM_000548.5(TSC2):c.4591G>A (p.Val1531Met)
|
rs762797016
|
0.00001
|
NM_000548.5(TSC2):c.4603G>A (p.Asp1535Asn)
|
rs45517353
|
0.00001
|
NM_000548.5(TSC2):c.4636G>A (p.Ala1546Thr)
|
rs1332979299
|
0.00001
|
NM_000548.5(TSC2):c.464A>G (p.Tyr155Cys)
|
rs755177576
|
0.00001
|
NM_000548.5(TSC2):c.4689C>T (p.Ser1563=)
|
rs45517363
|
0.00001
|
NM_000548.5(TSC2):c.4697A>G (p.His1566Arg)
|
rs1448001502
|
0.00001
|
NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp)
|
rs777592623
|
0.00001
|
NM_000548.5(TSC2):c.4739G>A (p.Arg1580Gln)
|
rs1371745883
|
0.00001
|
NM_000548.5(TSC2):c.4758C>G (p.Asp1586Glu)
|
rs1366814192
|
0.00001
|
NM_000548.5(TSC2):c.4766C>T (p.Pro1589Leu)
|
rs373635516
|
0.00001
|
NM_000548.5(TSC2):c.4850C>G (p.Ala1617Gly)
|
rs1412545821
|
0.00001
|
NM_000548.5(TSC2):c.4868C>G (p.Thr1623Ser)
|
rs397515220
|
0.00001
|
NM_000548.5(TSC2):c.4886A>G (p.Asp1629Gly)
|
rs767444397
|
0.00001
|
NM_000548.5(TSC2):c.4915C>T (p.Arg1639Cys)
|
rs1555438551
|
0.00001
|
NM_000548.5(TSC2):c.4961G>T (p.Gly1654Val)
|
rs1555438692
|
0.00001
|
NM_000548.5(TSC2):c.4989+5G>A
|
rs1057522671
|
0.00001
|
NM_000548.5(TSC2):c.4990-4G>A
|
rs1368879013
|
0.00001
|
NM_000548.5(TSC2):c.4998C>A (p.Phe1666Leu)
|
rs757221445
|
0.00001
|
NM_000548.5(TSC2):c.499T>C (p.Trp167Arg)
|
rs1555498118
|
0.00001
|
NM_000548.5(TSC2):c.5011G>A (p.Val1671Met)
|
rs775395648
|
0.00001
|
NM_000548.5(TSC2):c.5021C>T (p.Thr1674Ile)
|
rs1555439727
|
0.00001
|
NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn)
|
rs1163037065
|
0.00001
|
NM_000548.5(TSC2):c.5038T>G (p.Cys1680Gly)
|
rs1555439802
|
0.00001
|
NM_000548.5(TSC2):c.5039G>A (p.Cys1680Tyr)
|
rs150558493
|
0.00001
|
NM_000548.5(TSC2):c.5049G>T (p.Val1683=)
|
rs1256890176
|
0.00001
|
NM_000548.5(TSC2):c.5065A>G (p.Lys1689Glu)
|
rs137854315
|
0.00001
|
NM_000548.5(TSC2):c.5067A>G (p.Lys1689=)
|
rs1018327394
|
0.00001
|
NM_000548.5(TSC2):c.5069-5C>T
|
rs762149472
|
0.00001
|
NM_000548.5(TSC2):c.5071A>G (p.Met1691Val)
|
rs767809848
|
0.00001
|
NM_000548.5(TSC2):c.5076G>C (p.Glu1692Asp)
|
rs1358186613
|
0.00001
|
NM_000548.5(TSC2):c.5086G>T (p.Asp1696Tyr)
|
rs1555440048
|
0.00001
|
NM_000548.5(TSC2):c.5107G>A (p.Val1703Met)
|
rs2091092273
|
0.00001
|
NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr)
|
rs45474691
|
0.00001
|
NM_000548.5(TSC2):c.5135C>T (p.Ala1712Val)
|
rs45517394
|
0.00001
|
NM_000548.5(TSC2):c.5137C>T (p.Arg1713Cys)
|
rs759420443
|
0.00001
|
NM_000548.5(TSC2):c.5144T>C (p.Met1715Thr)
|
rs758246234
|
0.00001
|
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr)
|
rs201206500
|
0.00001
|
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val)
|
rs45517407
|
0.00001
|
NM_000548.5(TSC2):c.5165C>T (p.Ala1722Val)
|
rs1373235682
|
0.00001
|
NM_000548.5(TSC2):c.5191A>G (p.Asn1731Asp)
|
rs1555440500
|
0.00001
|
NM_000548.5(TSC2):c.5201A>G (p.Asp1734Gly)
|
rs878854117
|
0.00001
|
NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val)
|
rs781407050
|
0.00001
|
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val)
|
rs140526185
|
0.00001
|
NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys)
|
rs760413281
|
0.00001
|
NM_000548.5(TSC2):c.5245C>T (p.Arg1749Trp)
|
rs1193817827
|
0.00001
|
NM_000548.5(TSC2):c.5254C>G (p.Gln1752Glu)
|
rs45517414
|
0.00001
|
NM_000548.5(TSC2):c.5258G>A (p.Arg1753Gln)
|
rs749487441
|
0.00001
|
NM_000548.5(TSC2):c.5288C>G (p.Pro1763Arg)
|
rs781139561
|
0.00001
|
NM_000548.5(TSC2):c.5288C>T (p.Pro1763Leu)
|
rs781139561
|
0.00001
|
NM_000548.5(TSC2):c.5296C>T (p.Pro1766Ser)
|
rs779621136
|
0.00001
|
NM_000548.5(TSC2):c.5299C>G (p.Leu1767Val)
|
rs1051758
|
0.00001
|
NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr)
|
rs1555441265
|
0.00001
|
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg)
|
rs45517418
|
0.00001
|
NM_000548.5(TSC2):c.5320A>G (p.Ser1774Gly)
|
rs368083145
|
0.00001
|
NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr)
|
rs1245934608
|
0.00001
|
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg)
|
rs748947919
|
0.00001
|
NM_000548.5(TSC2):c.5363A>G (p.Tyr1788Cys)
|
rs397515221
|
0.00001
|
NM_000548.5(TSC2):c.5374C>A (p.Gln1792Lys)
|
rs201916931
|
0.00001
|
NM_000548.5(TSC2):c.5377C>T (p.Arg1793Trp)
|
rs1473538868
|
0.00001
|
NM_000548.5(TSC2):c.5381A>G (p.Lys1794Arg)
|
rs756064266
|
0.00001
|
NM_000548.5(TSC2):c.5389A>C (p.Ile1797Leu)
|
rs796053479
|
0.00001
|
NM_000548.5(TSC2):c.5401G>A (p.Glu1801Lys)
|
rs1249406161
|
0.00001
|
NM_000548.5(TSC2):c.5416T>C (p.Phe1806Leu)
|
rs1060500910
|
0.00001
|
NM_000548.5(TSC2):c.566G>A (p.Cys189Tyr)
|
rs764218079
|
0.00001
|
NM_000548.5(TSC2):c.603G>C (p.Met201Ile)
|
rs45506197
|
0.00001
|
NM_000548.5(TSC2):c.643A>G (p.Ile215Val)
|
rs1293515155
|
0.00001
|
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)
|
rs45517118
|
0.00001
|
NM_000548.5(TSC2):c.686A>G (p.Asn229Ser)
|
rs1555498800
|
0.00001
|
NM_000548.5(TSC2):c.694C>T (p.Pro232Ser)
|
rs751846529
|
0.00001
|
NM_000548.5(TSC2):c.695C>T (p.Pro232Leu)
|
rs760100924
|
0.00001
|
NM_000548.5(TSC2):c.713T>C (p.Leu238Pro)
|
rs768623382
|
0.00001
|
NM_000548.5(TSC2):c.739A>G (p.Ile247Val)
|
rs774526017
|
0.00001
|
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser)
|
rs762104739
|
0.00001
|
NM_000548.5(TSC2):c.745G>A (p.Val249Ile)
|
rs750649974
|
0.00001
|
NM_000548.5(TSC2):c.782G>A (p.Arg261Gln)
|
rs45502703
|
0.00001
|
NM_000548.5(TSC2):c.821A>G (p.Tyr274Cys)
|
rs1305592691
|
0.00001
|
NM_000548.5(TSC2):c.827T>C (p.Met276Thr)
|
rs1281538226
|
0.00001
|
NM_000548.5(TSC2):c.849-4T>C
|
rs752614339
|
0.00001
|
NM_000548.5(TSC2):c.864C>G (p.Asp288Glu)
|
rs780887572
|
0.00001
|
NM_000548.5(TSC2):c.865G>A (p.Ala289Thr)
|
rs750060649
|
0.00001
|
NM_000548.5(TSC2):c.886G>A (p.Val296Met)
|
rs747237113
|
0.00001
|
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser)
|
rs747310967
|
0.00001
|
NM_000548.5(TSC2):c.923G>A (p.Arg308Gln)
|
rs1213252028
|
0.00001
|
NM_000548.5(TSC2):c.947C>A (p.Pro316Gln)
|
rs751490043
|
0.00001
|
NM_000548.5(TSC2):c.95A>G (p.Glu32Gly)
|
rs1482573368
|
0.00001
|
NM_000548.5(TSC2):c.97G>A (p.Gly33Ser)
|
rs370230541
|
0.00001
|
NM_000548.5(TSC2):c.985T>C (p.Cys329Arg)
|
rs2086518199
|
0.00001
|
NM_000548.5(TSC2):c.994G>A (p.Glu332Lys)
|
rs911600402
|
0.00001
|
NM_000548.5(TSC2):c.997G>T (p.Val333Leu)
|
rs1336741146
|
0.00001
|
NM_000548.5(TSC2):c.-4C>T
|
rs1596233597
|
|
NM_000548.5(TSC2):c.-5C>T
|
|
|
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala)
|
rs45484892
|
|
NM_000548.5(TSC2):c.1001_1009del (p.Val334_Tyr336del)
|
|
|
NM_000548.5(TSC2):c.1013T>G (p.Ile338Ser)
|
|
|
NM_000548.5(TSC2):c.1014C>G (p.Ile338Met)
|
rs1250621196
|
|
NM_000548.5(TSC2):c.1014C>T (p.Ile338=)
|
rs1250621196
|
|
NM_000548.5(TSC2):c.101A>G (p.Lys34Arg)
|
rs777988634
|
|
NM_000548.5(TSC2):c.1020G>T (p.Leu340=)
|
|
|
NM_000548.5(TSC2):c.1022C>T (p.Ser341Phe)
|
rs2086524884
|
|
NM_000548.5(TSC2):c.1033_1035delinsTTA (p.Leu345=)
|
|
|
NM_000548.5(TSC2):c.1036A>G (p.Ile346Val)
|
rs768760795
|
|
NM_000548.5(TSC2):c.1049G>A (p.Arg350Lys)
|
rs1567423240
|
|
NM_000548.5(TSC2):c.1057C>G (p.Leu353Val)
|
rs902767624
|
|
NM_000548.5(TSC2):c.1058T>A (p.Leu353His)
|
|
|
NM_000548.5(TSC2):c.1061_1119+22dup
|
|
|
NM_000548.5(TSC2):c.1063G>T (p.Val355Leu)
|
|
|
NM_000548.5(TSC2):c.1074G>C (p.Trp358Cys)
|
|
|
NM_000548.5(TSC2):c.1077C>A (p.Asp359Glu)
|
|
|
NM_000548.5(TSC2):c.1078A>G (p.Ile360Val)
|
rs1555500560
|
|
NM_000548.5(TSC2):c.1078A>T (p.Ile360Phe)
|
|
|
NM_000548.5(TSC2):c.1080T>G (p.Ile360Met)
|
rs2086534827
|
|
NM_000548.5(TSC2):c.1090A>G (p.Ile364Val)
|
rs2086536512
|
|
NM_000548.5(TSC2):c.1095C>G (p.Ile365Met)
|
rs757135168
|
|
NM_000548.5(TSC2):c.1096G>C (p.Glu366Gln)
|
rs45517148
|
|
NM_000548.5(TSC2):c.1097A>C (p.Glu366Ala)
|
|
|
NM_000548.5(TSC2):c.1102C>T (p.Leu368Phe)
|
rs1567423904
|
|
NM_000548.5(TSC2):c.1103T>C (p.Leu368Pro)
|
|
|
NM_000548.5(TSC2):c.1105C>A (p.Leu369Ile)
|
rs1195544121
|
|
NM_000548.5(TSC2):c.1112A>G (p.Gln371Arg)
|
rs1555500581
|
|
NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro)
|
rs1060500919
|
|
NM_000548.5(TSC2):c.1119+3G>C
|
rs79668097
|
|
NM_000548.5(TSC2):c.1119+5G>C
|
rs2086542949
|
|
NM_000548.5(TSC2):c.1120-1G>A
|
rs1596303216
|
|
NM_000548.5(TSC2):c.1120-4G>A
|
|
|
NM_000548.5(TSC2):c.1120-5T>C
|
rs896351318
|
|
NM_000548.5(TSC2):c.1131C>G (p.Ser377Arg)
|
rs201525586
|
|
NM_000548.5(TSC2):c.1133C>G (p.Pro378Arg)
|
rs45517154
|
|
NM_000548.5(TSC2):c.1151T>C (p.Val384Ala)
|
|
|
NM_000548.5(TSC2):c.1164G>T (p.Leu388Phe)
|
|
|
NM_000548.5(TSC2):c.1165A>G (p.Thr389Ala)
|
|
|
NM_000548.5(TSC2):c.1166C>A (p.Thr389Asn)
|
|
|
NM_000548.5(TSC2):c.1168A>T (p.Thr390Ser)
|
rs2086688013
|
|
NM_000548.5(TSC2):c.1169C>T (p.Thr390Met)
|
rs1596303442
|
|
NM_000548.5(TSC2):c.1174G>A (p.Glu392Lys)
|
|
|
NM_000548.5(TSC2):c.1179G>C (p.Glu393Asp)
|
|
|
NM_000548.5(TSC2):c.1180C>G (p.Leu394Val)
|
rs1409309186
|
|
NM_000548.5(TSC2):c.1184G>A (p.Cys395Tyr)
|
rs1026632436
|
|
NM_000548.5(TSC2):c.1186G>C (p.Asp396His)
|
rs1596303501
|
|
NM_000548.5(TSC2):c.1191G>C (p.Gln397His)
|
rs2086690848
|
|
NM_000548.5(TSC2):c.1194C>G (p.Asn398Lys)
|
|
|
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys)
|
rs773920155
|
|
NM_000548.5(TSC2):c.119T>C (p.Ile40Thr)
|
rs587781758
|
|
NM_000548.5(TSC2):c.1202A>G (p.His401Arg)
|
rs2086691569
|
|
NM_000548.5(TSC2):c.1204G>A (p.Gly402Arg)
|
rs771561593
|
|
NM_000548.5(TSC2):c.1204G>T (p.Gly402Trp)
|
rs771561593
|
|
NM_000548.5(TSC2):c.1205G>A (p.Gly402Glu)
|
rs777172185
|
|
NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly)
|
rs1057518321
|
|
NM_000548.5(TSC2):c.1217G>A (p.Arg406Lys)
|
rs2086693907
|
|
NM_000548.5(TSC2):c.1218A>G (p.Arg406=)
|
|
|
NM_000548.5(TSC2):c.1219T>C (p.Tyr407His)
|
|
|
NM_000548.5(TSC2):c.121A>G (p.Thr41Ala)
|
rs1596234558
|
|
NM_000548.5(TSC2):c.1225G>C (p.Glu409Gln)
|
|
|
NM_000548.5(TSC2):c.122C>A (p.Thr41Asn)
|
|
|
NM_000548.5(TSC2):c.122C>T (p.Thr41Ile)
|
rs1385450866
|
|
NM_000548.5(TSC2):c.1234G>C (p.Glu412Gln)
|
rs1596303713
|
|
NM_000548.5(TSC2):c.1237A>G (p.Arg413Gly)
|
rs2151156876
|
|
NM_000548.5(TSC2):c.1246G>A (p.Asp416Asn)
|
rs45517157
|
|
NM_000548.5(TSC2):c.1248C>G (p.Asp416Glu)
|
rs1555501144
|
|
NM_000548.5(TSC2):c.1250A>C (p.Gln417Pro)
|
|
|
NM_000548.5(TSC2):c.1256C>T (p.Pro419Leu)
|
rs1237876686
|
|
NM_000548.5(TSC2):c.1258G>C (p.Glu420Gln)
|
|
|
NM_000548.5(TSC2):c.125C>T (p.Ala42Val)
|
rs199562226
|
|
NM_000548.5(TSC2):c.1260G>T (p.Glu420Asp)
|
rs876658585
|
|
NM_000548.5(TSC2):c.1262C>T (p.Ser421Phe)
|
rs2151163260
|
|
NM_000548.5(TSC2):c.1266C>T (p.Ser422=)
|
|
|
NM_000548.5(TSC2):c.1268T>C (p.Leu423Pro)
|
|
|
NM_000548.5(TSC2):c.1275C>G (p.Asn425Lys)
|
|
|
NM_000548.5(TSC2):c.1275C>T (p.Asn425=)
|
rs878854076
|
|
NM_000548.5(TSC2):c.127G>A (p.Glu43Lys)
|
rs2084685904
|
|
NM_000548.5(TSC2):c.1281C>G (p.Ile427Met)
|
rs45478892
|
|
NM_000548.5(TSC2):c.1285T>C (p.Tyr429His)
|
|
|
NM_000548.5(TSC2):c.1286A>G (p.Tyr429Cys)
|
rs774727624
|
|
NM_000548.5(TSC2):c.1289G>T (p.Arg430Ile)
|
|
|
NM_000548.5(TSC2):c.1304A>T (p.His435Leu)
|
rs1555501389
|
|
NM_000548.5(TSC2):c.1305C>G (p.His435Gln)
|
|
|
NM_000548.5(TSC2):c.1306C>A (p.Pro436Thr)
|
rs1489429320
|
|
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu)
|
rs796053485
|
|
NM_000548.5(TSC2):c.130A>G (p.Ile44Val)
|
rs1555494697
|
|
NM_000548.5(TSC2):c.1312A>C (p.Lys438Gln)
|
|
|
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu)
|
rs777457815
|
|
NM_000548.5(TSC2):c.1332C>G (p.Asn444Lys)
|
rs535984356
|
|
NM_000548.5(TSC2):c.133C>G (p.Leu45Val)
|
rs1555494707
|
|
NM_000548.5(TSC2):c.134T>C (p.Leu45Pro)
|
rs1383831944
|
|
NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu)
|
rs769147552
|
|
NM_000548.5(TSC2):c.1356C>G (p.Phe452Leu)
|
rs769147552
|
|
NM_000548.5(TSC2):c.1360A>T (p.Arg454Trp)
|
|
|
NM_000548.5(TSC2):c.1361+5G>A
|
rs2086781791
|
|
NM_000548.5(TSC2):c.1362-4G>T
|
rs397515145
|
|
NM_000548.5(TSC2):c.1362G>A (p.Arg454=)
|
|
|
NM_000548.5(TSC2):c.1364G>A (p.Ser455Asn)
|
rs1567432782
|
|
NM_000548.5(TSC2):c.1370C>A (p.Ser457Tyr)
|
rs1278503244
|
|
NM_000548.5(TSC2):c.1375G>T (p.Gly459Cys)
|
rs1567432890
|
|
NM_000548.5(TSC2):c.1378G>C (p.Ala460Pro)
|
|
|
NM_000548.5(TSC2):c.1381G>A (p.Val461Met)
|
rs796053486
|
|
NM_000548.5(TSC2):c.1384C>G (p.Arg462Gly)
|
rs397515261
|
|
NM_000548.5(TSC2):c.1384C>T (p.Arg462Cys)
|
rs397515261
|
|
NM_000548.5(TSC2):c.1385G>A (p.Arg462His)
|
rs45494392
|
|
NM_000548.5(TSC2):c.1391A>G (p.Lys464Arg)
|
rs1033108057
|
|
NM_000548.5(TSC2):c.1400A>G (p.Asp467Gly)
|
rs1060500977
|
|
NM_000548.5(TSC2):c.1402G>A (p.Val468Met)
|
rs1158055650
|
|
NM_000548.5(TSC2):c.1411T>G (p.Phe471Val)
|
|
|
NM_000548.5(TSC2):c.1412T>G (p.Phe471Cys)
|
|
|
NM_000548.5(TSC2):c.1432C>G (p.Gln478Glu)
|
rs121964862
|
|
NM_000548.5(TSC2):c.1433A>G (p.Gln478Arg)
|
rs1555501733
|
|
NM_000548.5(TSC2):c.1433A>T (p.Gln478Leu)
|
|
|
NM_000548.5(TSC2):c.1435T>C (p.Phe479Leu)
|
rs2151173141
|
|
NM_000548.5(TSC2):c.1439A>G (p.Tyr480Cys)
|
rs2086832697
|
|
NM_000548.5(TSC2):c.143T>A (p.Leu48Gln)
|
|
|
NM_000548.5(TSC2):c.1443+4C>A
|
rs45517172
|
|
NM_000548.5(TSC2):c.1443+4C>G
|
rs45517172
|
|
NM_000548.5(TSC2):c.1443+5G>A
|
rs1057521562
|
|
NM_000548.5(TSC2):c.1449G>C (p.Glu483Asp)
|
|
|
NM_000548.5(TSC2):c.1453A>G (p.Ile485Val)
|
|
|
NM_000548.5(TSC2):c.1456A>T (p.Asn486Tyr)
|
|
|
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys)
|
rs200532154
|
|
NM_000548.5(TSC2):c.1459T>A (p.Ser487Thr)
|
|
|
NM_000548.5(TSC2):c.1470C>G (p.Ile490Met)
|
rs753344988
|
|
NM_000548.5(TSC2):c.1476G>C (p.Gln492His)
|
rs1596311941
|
|
NM_000548.5(TSC2):c.1481C>A (p.Ser494Tyr)
|
|
|
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe)
|
rs751984707
|
|
NM_000548.5(TSC2):c.1487T>A (p.Ile496Asn)
|
|
|
NM_000548.5(TSC2):c.148A>C (p.Met50Leu)
|
|
|
NM_000548.5(TSC2):c.1490C>T (p.Pro497Leu)
|
rs1484576810
|
|
NM_000548.5(TSC2):c.1498A>G (p.Lys500Glu)
|
rs2151189527
|
|
NM_000548.5(TSC2):c.1501G>A (p.Asp501Asn)
|
|
|
NM_000548.5(TSC2):c.1506C>A (p.His502Gln)
|
|
|
NM_000548.5(TSC2):c.1507C>G (p.Gln503Glu)
|
rs397514929
|
|
NM_000548.5(TSC2):c.1509G>C (p.Gln503His)
|
|
|
NM_000548.5(TSC2):c.1513C>G (p.Arg505Gly)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1518G>T (p.Lys506Asn)
|
|
|
NM_000548.5(TSC2):c.1520T>C (p.Leu507Pro)
|
rs1413063599
|
|
NM_000548.5(TSC2):c.1522G>T (p.Ala508Ser)
|
|
|
NM_000548.5(TSC2):c.1523C>T (p.Ala508Val)
|
|
|
NM_000548.5(TSC2):c.1526C>G (p.Thr509Ser)
|
rs2151190252
|
|
NM_000548.5(TSC2):c.1529A>C (p.Gln510Pro)
|
rs1596312182
|
|
NM_000548.5(TSC2):c.1529A>G (p.Gln510Arg)
|
rs1596312182
|
|
NM_000548.5(TSC2):c.1534C>A (p.Leu512Met)
|
|
|
NM_000548.5(TSC2):c.153A>T (p.Glu51Asp)
|
rs746366461
|
|
NM_000548.5(TSC2):c.1542C>G (p.Asp514Glu)
|
rs2151190617
|
|
NM_000548.5(TSC2):c.1547C>T (p.Ala516Val)
|
rs2151190764
|
|
NM_000548.5(TSC2):c.1549G>C (p.Glu517Gln)
|
|
|
NM_000548.5(TSC2):c.154T>G (p.Cys52Gly)
|
|
|
NM_000548.5(TSC2):c.1553G>T (p.Gly518Val)
|
rs1229407025
|
|
NM_000548.5(TSC2):c.1555T>G (p.Cys519Gly)
|
rs1156554876
|
|
NM_000548.5(TSC2):c.1559A>G (p.His520Arg)
|
rs1220672669
|
|
NM_000548.5(TSC2):c.1562C>T (p.Thr521Ile)
|
|
|
NM_000548.5(TSC2):c.1564CAC[1] (p.His523del)
|
rs2087028639
|
|
NM_000548.5(TSC2):c.1565A>G (p.His522Arg)
|
rs397515147
|
|
NM_000548.5(TSC2):c.1567C>T (p.His523Tyr)
|
rs1567438108
|
|
NM_000548.5(TSC2):c.156T>G (p.Cys52Trp)
|
|
|
NM_000548.5(TSC2):c.1593C>G (p.Ile531Met)
|
rs45517180
|
|
NM_000548.5(TSC2):c.1594G>C (p.Glu532Gln)
|
rs149222396
|
|
NM_000548.5(TSC2):c.1599+3G>A
|
|
|
NM_000548.5(TSC2):c.1599+5G>A
|
rs397515100
|
|
NM_000548.5(TSC2):c.1600G>A (p.Val534Met)
|
rs587778729
|
|
NM_000548.5(TSC2):c.1601T>G (p.Val534Gly)
|
rs924098595
|
|
NM_000548.5(TSC2):c.1606G>T (p.Ala536Ser)
|
|
|
NM_000548.5(TSC2):c.1607C>T (p.Ala536Val)
|
rs45517187
|
|
NM_000548.5(TSC2):c.160C>T (p.Leu54Phe)
|
rs1394176023
|
|
NM_000548.5(TSC2):c.1613C>G (p.Ser538Cys)
|
rs201334685
|
|
NM_000548.5(TSC2):c.1615C>T (p.Leu539Phe)
|
rs2087226024
|
|
NM_000548.5(TSC2):c.1619C>T (p.Ser540Phe)
|
rs1296271407
|
|
NM_000548.5(TSC2):c.161T>C (p.Leu54Pro)
|
|
|
NM_000548.5(TSC2):c.1621C>A (p.Pro541Thr)
|
rs1596317209
|
|
NM_000548.5(TSC2):c.1621C>G (p.Pro541Ala)
|
rs1596317209
|
|
NM_000548.5(TSC2):c.1622C>A (p.Pro541Gln)
|
rs752953762
|
|
NM_000548.5(TSC2):c.1622C>T (p.Pro541Leu)
|
|
|
NM_000548.5(TSC2):c.1624C>A (p.Pro542Thr)
|
rs891347695
|
|
NM_000548.5(TSC2):c.1625C>A (p.Pro542His)
|
rs764191178
|
|
NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu)
|
rs764191178
|
|
NM_000548.5(TSC2):c.1632G>T (p.Glu544Asp)
|
rs137854075
|
|
NM_000548.5(TSC2):c.1633C>G (p.Leu545Val)
|
rs1060504103
|
|
NM_000548.5(TSC2):c.1643G>C (p.Arg548Thr)
|
rs748938385
|
|
NM_000548.5(TSC2):c.1646A>G (p.Asp549Gly)
|
rs1170792905
|
|
NM_000548.5(TSC2):c.1646A>T (p.Asp549Val)
|
rs1170792905
|
|
NM_000548.5(TSC2):c.164A>T (p.Asn55Ile)
|
rs1555495709
|
|
NM_000548.5(TSC2):c.1652C>T (p.Ala551Val)
|
rs1465307943
|
|
NM_000548.5(TSC2):c.1655C>T (p.Ala552Val)
|
rs1555503231
|
|
NM_000548.5(TSC2):c.1660T>C (p.Ser554Pro)
|
rs1596317415
|
|
NM_000548.5(TSC2):c.1663G>C (p.Ala555Pro)
|
rs763183991
|
|
NM_000548.5(TSC2):c.1669T>G (p.Leu557Val)
|
|
|
NM_000548.5(TSC2):c.1670T>C (p.Leu557Ser)
|
|
|
NM_000548.5(TSC2):c.1675G>T (p.Asp559Tyr)
|
rs1555503254
|
|
NM_000548.5(TSC2):c.1676A>G (p.Asp559Gly)
|
rs767619776
|
|
NM_000548.5(TSC2):c.1679T>C (p.Val560Ala)
|
rs1596317536
|
|
NM_000548.5(TSC2):c.1683G>T (p.Lys561Asn)
|
|
|
NM_000548.5(TSC2):c.1688C>A (p.Ala563Asp)
|
|
|
NM_000548.5(TSC2):c.168T>A (p.Asn56Lys)
|
|
|
NM_000548.5(TSC2):c.1690G>A (p.Val564Ile)
|
rs147072281
|
|
NM_000548.5(TSC2):c.1690G>C (p.Val564Leu)
|
rs147072281
|
|
NM_000548.5(TSC2):c.16A>G (p.Ser6Gly)
|
rs1555494544
|
|
NM_000548.5(TSC2):c.1708A>G (p.Ile570Val)
|
rs397515230
|
|
NM_000548.5(TSC2):c.1711C>T (p.Leu571Phe)
|
rs1596317641
|
|
NM_000548.5(TSC2):c.1715A>C (p.Gln572Pro)
|
rs1596317664
|
|
NM_000548.5(TSC2):c.1717A>G (p.Thr573Ala)
|
|
|
NM_000548.5(TSC2):c.1721A>G (p.Lys574Arg)
|
rs1060500926
|
|
NM_000548.5(TSC2):c.1726T>G (p.Tyr576Asp)
|
|
|
NM_000548.5(TSC2):c.1729A>T (p.Thr577Ser)
|
rs1204749633
|
|
NM_000548.5(TSC2):c.172A>G (p.Ile58Val)
|
rs2084960700
|
|
NM_000548.5(TSC2):c.1730C>A (p.Thr577Asn)
|
|
|
NM_000548.5(TSC2):c.1735C>T (p.Pro579Ser)
|
rs45517196
|
|
NM_000548.5(TSC2):c.1736C>T (p.Pro579Leu)
|
|
|
NM_000548.5(TSC2):c.1738G>A (p.Ala580Thr)
|
rs1596336167
|
|
NM_000548.5(TSC2):c.1743C>G (p.Ser581Arg)
|
|
|
NM_000548.5(TSC2):c.1747G>T (p.Ala583Ser)
|
|
|
NM_000548.5(TSC2):c.1751C>G (p.Thr584Arg)
|
rs751147419
|
|
NM_000548.5(TSC2):c.1753C>G (p.Arg585Gly)
|
rs370324876
|
|
NM_000548.5(TSC2):c.1757T>C (p.Val586Ala)
|
rs2088127954
|
|
NM_000548.5(TSC2):c.1759T>C (p.Tyr587His)
|
rs1555505094
|
|
NM_000548.5(TSC2):c.1762G>A (p.Glu588Lys)
|
rs1596336374
|
|
NM_000548.5(TSC2):c.1763A>T (p.Glu588Val)
|
|
|
NM_000548.5(TSC2):c.1764G>C (p.Glu588Asp)
|
rs2088130143
|
|
NM_000548.5(TSC2):c.1767G>A (p.Met589Ile)
|
|
|
NM_000548.5(TSC2):c.176G>A (p.Arg59Gln)
|
rs1161261925
|
|
NM_000548.5(TSC2):c.1771G>A (p.Val591Ile)
|
rs984275273
|
|
NM_000548.5(TSC2):c.1772T>G (p.Val591Gly)
|
|
|
NM_000548.5(TSC2):c.1784A>C (p.Gln595Pro)
|
rs781087045
|
|
NM_000548.5(TSC2):c.178A>T (p.Met60Leu)
|
rs1053960780
|
|
NM_000548.5(TSC2):c.1790A>T (p.His597Leu)
|
rs137854322
|
|
NM_000548.5(TSC2):c.1793A>T (p.Tyr598Phe)
|
rs45509791
|
|
NM_000548.5(TSC2):c.1795A>G (p.Lys599Glu)
|
rs2088139595
|
|
NM_000548.5(TSC2):c.17G>A (p.Ser6Asn)
|
rs758239066
|
|
NM_000548.5(TSC2):c.1802G>C (p.Ser601Thr)
|
|
|
NM_000548.5(TSC2):c.1805A>C (p.Tyr602Ser)
|
|
|
NM_000548.5(TSC2):c.1807A>T (p.Thr603Ser)
|
rs876660140
|
|
NM_000548.5(TSC2):c.1813C>A (p.Pro605Thr)
|
rs1295352648
|
|
NM_000548.5(TSC2):c.1813C>T (p.Pro605Ser)
|
rs1295352648
|
|
NM_000548.5(TSC2):c.1814C>T (p.Pro605Leu)
|
rs1555505178
|
|
NM_000548.5(TSC2):c.1816A>C (p.Ile606Leu)
|
|
|
NM_000548.5(TSC2):c.1826G>T (p.Ser609Ile)
|
|
|
NM_000548.5(TSC2):c.1828A>C (p.Ile610Leu)
|
|
|
NM_000548.5(TSC2):c.1828A>G (p.Ile610Val)
|
rs1285778253
|
|
NM_000548.5(TSC2):c.1829T>C (p.Ile610Thr)
|
|
|
NM_000548.5(TSC2):c.1838A>G (p.Gln613Arg)
|
rs2151282389
|
|
NM_000548.5(TSC2):c.1839+3A>T
|
rs1596336981
|
|
NM_000548.5(TSC2):c.1839+4T>C
|
rs1246472342
|
|
NM_000548.5(TSC2):c.1839+5G>C
|
rs200568460
|
|
NM_000548.5(TSC2):c.1839G>A (p.Gln613=)
|
rs1555505208
|
|
NM_000548.5(TSC2):c.1840-3C>T
|
rs397515154
|
|
NM_000548.5(TSC2):c.1840-5G>C
|
rs2151295776
|
|
NM_000548.5(TSC2):c.1840G>A (p.Ala614Thr)
|
rs397515199
|
|
NM_000548.5(TSC2):c.1849T>C (p.Phe617Leu)
|
|
|
NM_000548.5(TSC2):c.1850T>A (p.Phe617Tyr)
|
|
|
NM_000548.5(TSC2):c.1850T>C (p.Phe617Ser)
|
|
|
NM_000548.5(TSC2):c.1867G>A (p.Ala623Thr)
|
|
|
NM_000548.5(TSC2):c.1881C>A (p.His627Gln)
|
rs967430707
|
|
NM_000548.5(TSC2):c.1885C>G (p.Leu629Val)
|
rs570409651
|
|
NM_000548.5(TSC2):c.189G>C (p.Gln63His)
|
|
|
NM_000548.5(TSC2):c.1903G>A (p.Asp635Asn)
|
rs1060500932
|
|
NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu)
|
rs1596342515
|
|
NM_000548.5(TSC2):c.1906G>A (p.Gly636Arg)
|
|
|
NM_000548.5(TSC2):c.1909G>A (p.Val637Ile)
|
|
|
NM_000548.5(TSC2):c.190A>C (p.Ile64Leu)
|
|
|
NM_000548.5(TSC2):c.190A>G (p.Ile64Val)
|
rs397515081
|
|
NM_000548.5(TSC2):c.190A>T (p.Ile64Phe)
|
rs397515081
|
|
NM_000548.5(TSC2):c.1912G>A (p.Val638Met)
|
rs587778730
|
|
NM_000548.5(TSC2):c.1912G>C (p.Val638Leu)
|
rs587778730
|
|
NM_000548.5(TSC2):c.1922G>A (p.Ser641Asn)
|
rs397514964
|
|
NM_000548.5(TSC2):c.1924C>A (p.Pro642Thr)
|
rs889366862
|
|
NM_000548.5(TSC2):c.1925C>A (p.Pro642His)
|
rs1408228669
|
|
NM_000548.5(TSC2):c.1927T>A (p.Tyr643Asn)
|
|
|
NM_000548.5(TSC2):c.1937G>A (p.Cys646Tyr)
|
rs1555505863
|
|
NM_000548.5(TSC2):c.1940A>C (p.Asp647Ala)
|
rs2151299187
|
|
NM_000548.5(TSC2):c.1943A>G (p.Tyr648Cys)
|
|
|
NM_000548.5(TSC2):c.1945A>T (p.Met649Leu)
|
rs762331610
|
|
NM_000548.5(TSC2):c.1947-4_1947-3delinsAT
|
|
|
NM_000548.5(TSC2):c.1947G>A (p.Met649Ile)
|
rs775845436
|
|
NM_000548.5(TSC2):c.1958G>A (p.Arg653Lys)
|
rs876658202
|
|
NM_000548.5(TSC2):c.1960G>A (p.Gly654Ser)
|
rs397515114
|
|
NM_000548.5(TSC2):c.1967AGA[2] (p.Lys658del)
|
rs137854104
|
|
NM_000548.5(TSC2):c.1970A>G (p.Lys657Arg)
|
|
|
NM_000548.5(TSC2):c.1972A>G (p.Lys658Glu)
|
rs1596344129
|
|
NM_000548.5(TSC2):c.1974G>T (p.Lys658Asn)
|
|
|
NM_000548.5(TSC2):c.1978A>C (p.Ser660Arg)
|
|
|
NM_000548.5(TSC2):c.1979G>A (p.Ser660Asn)
|
rs754504918
|
|
NM_000548.5(TSC2):c.1982_1983delinsTT (p.Gly661Val)
|
rs137854103
|
|
NM_000548.5(TSC2):c.1988T>G (p.Leu663Arg)
|
rs1555506026
|
|
NM_000548.5(TSC2):c.1990T>G (p.Ser664Ala)
|
rs1555506028
|
|
NM_000548.5(TSC2):c.1991C>A (p.Ser664Tyr)
|
rs991714565
|
|
NM_000548.5(TSC2):c.1994C>T (p.Pro665Leu)
|
|
|
NM_000548.5(TSC2):c.1999A>G (p.Thr667Ala)
|
rs757722513
|
|
NM_000548.5(TSC2):c.1A>G (p.Met1Val)
|
rs1055443730
|
|
NM_000548.5(TSC2):c.2000C>T (p.Thr667Ile)
|
rs781533796
|
|
NM_000548.5(TSC2):c.2003G>A (p.Gly668Glu)
|
rs1406015247
|
|
NM_000548.5(TSC2):c.2005C>T (p.Pro669Ser)
|
|
|
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu)
|
rs794727221
|
|
NM_000548.5(TSC2):c.2008C>G (p.Pro670Ala)
|
rs1338802781
|
|
NM_000548.5(TSC2):c.2008C>T (p.Pro670Ser)
|
|
|
NM_000548.5(TSC2):c.2014C>G (p.Pro672Ala)
|
rs1262368552
|
|
NM_000548.5(TSC2):c.2017G>C (p.Ala673Pro)
|
|
|
NM_000548.5(TSC2):c.2023G>A (p.Ala675Thr)
|
rs764840082
|
|
NM_000548.5(TSC2):c.2023_2024delinsTT (p.Ala675Leu)
|
rs1555506090
|
|
NM_000548.5(TSC2):c.2024C>T (p.Ala675Val)
|
|
|
NM_000548.5(TSC2):c.2033C>A (p.Ala678Asp)
|
rs1567464805
|
|
NM_000548.5(TSC2):c.2035G>C (p.Val679Leu)
|
rs746315218
|
|
NM_000548.5(TSC2):c.2035G>T (p.Val679Leu)
|
rs746315218
|
|
NM_000548.5(TSC2):c.2038C>G (p.Arg680Gly)
|
rs876658578
|
|
NM_000548.5(TSC2):c.2039G>C (p.Arg680Pro)
|
rs756536921
|
|
NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu)
|
rs756536921
|
|
NM_000548.5(TSC2):c.203C>G (p.Ala68Gly)
|
|
|
NM_000548.5(TSC2):c.2042T>A (p.Leu681Gln)
|
rs878854079
|
|
NM_000548.5(TSC2):c.2042T>G (p.Leu681Arg)
|
|
|
NM_000548.5(TSC2):c.2048C>T (p.Ser683Phe)
|
rs919334398
|
|
NM_000548.5(TSC2):c.2054C>G (p.Pro685Arg)
|
rs959165669
|
|
NM_000548.5(TSC2):c.2057A>G (p.Tyr686Cys)
|
|
|
NM_000548.5(TSC2):c.205A>G (p.Lys69Glu)
|
rs45517095
|
|
NM_000548.5(TSC2):c.2065C>T (p.Leu689Phe)
|
rs1567465268
|
|
NM_000548.5(TSC2):c.206A>G (p.Lys69Arg)
|
|
|
NM_000548.5(TSC2):c.2070C>A (p.Phe690Leu)
|
rs558292668
|
|
NM_000548.5(TSC2):c.2077C>G (p.Leu693Val)
|
rs1167258871
|
|
NM_000548.5(TSC2):c.2084A>G (p.Gln695Arg)
|
rs1596345118
|
|
NM_000548.5(TSC2):c.2091G>T (p.Leu697Phe)
|
rs2151308956
|
|
NM_000548.5(TSC2):c.2096A>G (p.Gln699Arg)
|
rs1596345229
|
|
NM_000548.5(TSC2):c.2097+4_2097+18del
|
rs1596345239
|
|
NM_000548.5(TSC2):c.2097+5G>A
|
rs977777731
|
|
NM_000548.5(TSC2):c.2098-3C>T
|
rs876660489
|
|
NM_000548.5(TSC2):c.2098-4G>A
|
rs1306044216
|
|
NM_000548.5(TSC2):c.2098-5C>T
|
rs369072310
|
|
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn)
|
rs1013995962
|
|
NM_000548.5(TSC2):c.209C>T (p.Thr70Ile)
|
|
|
NM_000548.5(TSC2):c.2101T>C (p.Ser701Pro)
|
rs1596346996
|
|
NM_000548.5(TSC2):c.2102C>T (p.Ser701Phe)
|
rs1044030046
|
|
NM_000548.5(TSC2):c.2113G>C (p.Val705Leu)
|
rs397515241
|
|
NM_000548.5(TSC2):c.2114T>C (p.Val705Ala)
|
rs397515068
|
|
NM_000548.5(TSC2):c.2116C>A (p.Leu706Met)
|
|
|
NM_000548.5(TSC2):c.211A>G (p.Lys71Glu)
|
|
|
NM_000548.5(TSC2):c.2120A>G (p.Lys707Arg)
|
|
|
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met)
|
rs778040604
|
|
NM_000548.5(TSC2):c.2123T>C (p.Leu708Pro)
|
rs876659689
|
|
NM_000548.5(TSC2):c.2132G>A (p.Gly711Asp)
|
|
|
NM_000548.5(TSC2):c.2133C>T (p.Gly711=)
|
rs1060500915
|
|
NM_000548.5(TSC2):c.2137C>G (p.Leu713Val)
|
|
|
NM_000548.5(TSC2):c.213G>C (p.Lys71Asn)
|
|
|
NM_000548.5(TSC2):c.213_215del (p.Lys72del)
|
|
|
NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser)
|
rs182538665
|
|
NM_000548.5(TSC2):c.2153G>A (p.Arg718His)
|
rs45517215
|
|
NM_000548.5(TSC2):c.2156A>G (p.Tyr719Cys)
|
rs2088573975
|
|
NM_000548.5(TSC2):c.2161G>A (p.Val721Met)
|
rs768261185
|
|
NM_000548.5(TSC2):c.2164C>T (p.Leu722Phe)
|
rs1029969953
|
|
NM_000548.5(TSC2):c.2167A>C (p.Ile723Leu)
|
|
|
NM_000548.5(TSC2):c.2167A>T (p.Ile723Phe)
|
rs764725850
|
|
NM_000548.5(TSC2):c.2171T>C (p.Phe724Ser)
|
|
|
NM_000548.5(TSC2):c.2177C>G (p.Ser726Cys)
|
|
|
NM_000548.5(TSC2):c.2179C>G (p.Pro727Ala)
|
|
|
NM_000548.5(TSC2):c.2179C>T (p.Pro727Ser)
|
rs2151318416
|
|
NM_000548.5(TSC2):c.217T>C (p.Phe73Leu)
|
rs1596245977
|
|
NM_000548.5(TSC2):c.2180C>T (p.Pro727Leu)
|
rs767086409
|
|
NM_000548.5(TSC2):c.2185A>T (p.Ser729Cys)
|
|
|
NM_000548.5(TSC2):c.2186G>T (p.Ser729Ile)
|
|
|
NM_000548.5(TSC2):c.2188G>A (p.Val730Met)
|
rs1555506559
|
|
NM_000548.5(TSC2):c.2194C>A (p.Gln732Lys)
|
rs45517216
|
|
NM_000548.5(TSC2):c.2196G>T (p.Gln732His)
|
rs765646245
|
|
NM_000548.5(TSC2):c.2201G>A (p.Cys734Tyr)
|
|
|
NM_000548.5(TSC2):c.2213G>C (p.Cys738Ser)
|
|
|
NM_000548.5(TSC2):c.2216C>A (p.Ser739Tyr)
|
|
|
NM_000548.5(TSC2):c.2216C>T (p.Ser739Phe)
|
|
|
NM_000548.5(TSC2):c.2218A>G (p.Met740Val)
|
rs757345150
|
|
NM_000548.5(TSC2):c.221A>G (p.Glu74Gly)
|
rs2084968438
|
|
NM_000548.5(TSC2):c.2220+4C>A
|
|
|
NM_000548.5(TSC2):c.2220G>A (p.Met740Ile)
|
rs2151319848
|
|
NM_000548.5(TSC2):c.2221-3C>G
|
rs1555506834
|
|
NM_000548.5(TSC2):c.2221-5A>G
|
rs1555506829
|
|
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe)
|
rs886051789
|
|
NM_000548.5(TSC2):c.2222T>C (p.Leu741Pro)
|
rs2088681390
|
|
NM_000548.5(TSC2):c.2227G>A (p.Gly743Ser)
|
rs1555506852
|
|
NM_000548.5(TSC2):c.2231C>G (p.Pro744Arg)
|
rs774759789
|
|
NM_000548.5(TSC2):c.2236A>G (p.Thr746Ala)
|
|
|
NM_000548.5(TSC2):c.2239C>A (p.Leu747Met)
|
rs45517221
|
|
NM_000548.5(TSC2):c.2240T>A (p.Leu747Gln)
|
|
|
NM_000548.5(TSC2):c.2242G>A (p.Glu748Lys)
|
rs1442440961
|
|
NM_000548.5(TSC2):c.2244G>T (p.Glu748Asp)
|
rs2151326551
|
|
NM_000548.5(TSC2):c.225+4G>C
|
|
|
NM_000548.5(TSC2):c.2255G>A (p.Gly752Asp)
|
rs876660553
|
|
NM_000548.5(TSC2):c.2257G>C (p.Ala753Pro)
|
|
|
NM_000548.5(TSC2):c.2258C>T (p.Ala753Val)
|
|
|
NM_000548.5(TSC2):c.226-6_228dup
|
|
|
NM_000548.5(TSC2):c.226-74G>A
|
|
|
NM_000548.5(TSC2):c.2269T>A (p.Phe757Ile)
|
|
|
NM_000548.5(TSC2):c.2272T>C (p.Ser758Pro)
|
rs2151327279
|
|
NM_000548.5(TSC2):c.2273C>T (p.Ser758Phe)
|
rs45517223
|
|
NM_000548.5(TSC2):c.2288A>T (p.His763Leu)
|
|
|
NM_000548.5(TSC2):c.2290C>A (p.Leu764Met)
|
rs777614710
|
|
NM_000548.5(TSC2):c.2290C>G (p.Leu764Val)
|
rs777614710
|
|
NM_000548.5(TSC2):c.2291T>C (p.Leu764Pro)
|
|
|
NM_000548.5(TSC2):c.2296G>C (p.Val766Leu)
|
|
|
NM_000548.5(TSC2):c.2296G>T (p.Val766Leu)
|
|
|
NM_000548.5(TSC2):c.229G>T (p.Ala77Ser)
|
rs777459404
|
|
NM_000548.5(TSC2):c.2303C>G (p.Pro768Arg)
|
|
|
NM_000548.5(TSC2):c.2303C>T (p.Pro768Leu)
|
rs1555506977
|
|
NM_000548.5(TSC2):c.2311A>T (p.Thr771Ser)
|
rs1555506986
|
|
NM_000548.5(TSC2):c.2322C>G (p.Ile774Met)
|
rs760885994
|
|
NM_000548.5(TSC2):c.2324C>T (p.Ser775Phe)
|
rs2088701360
|
|
NM_000548.5(TSC2):c.2332A>G (p.Asn778Asp)
|
rs1060500946
|
|
NM_000548.5(TSC2):c.2343C>G (p.Asp781Glu)
|
rs1446097378
|
|
NM_000548.5(TSC2):c.2347A>G (p.Thr783Ala)
|
|
|
NM_000548.5(TSC2):c.2351A>C (p.Lys784Thr)
|
rs1489548085
|
|
NM_000548.5(TSC2):c.2355+2dup
|
|
|
NM_000548.5(TSC2):c.2355+3A>G
|
|
|
NM_000548.5(TSC2):c.2355+5G>C
|
rs756995937
|
|
NM_000548.5(TSC2):c.2356-5T>G
|
rs796053488
|
|
NM_000548.5(TSC2):c.2359G>A (p.Glu787Lys)
|
rs45517231
|
|
NM_000548.5(TSC2):c.2361G>C (p.Glu787Asp)
|
|
|
NM_000548.5(TSC2):c.2371T>C (p.Cys791Arg)
|
|
|
NM_000548.5(TSC2):c.2377G>A (p.Glu793Lys)
|
|
|
NM_000548.5(TSC2):c.2380C>A (p.Gln794Lys)
|
|
|
NM_000548.5(TSC2):c.2381A>G (p.Gln794Arg)
|
rs2151347628
|
|
NM_000548.5(TSC2):c.2384G>A (p.Gly795Asp)
|
rs1555507503
|
|
NM_000548.5(TSC2):c.2386C>G (p.Leu796Val)
|
rs1596356291
|
|
NM_000548.5(TSC2):c.238G>A (p.Ala80Thr)
|
rs2085359793
|
|
NM_000548.5(TSC2):c.2396G>A (p.Arg799His)
|
rs1567474646
|
|
NM_000548.5(TSC2):c.239C>T (p.Ala80Val)
|
rs142580483
|
|
NM_000548.5(TSC2):c.2408A>G (p.Gln803Arg)
|
|
|
NM_000548.5(TSC2):c.2409G>T (p.Gln803His)
|
rs1400548727
|
|
NM_000548.5(TSC2):c.2417_2419dup (p.Val806dup)
|
rs1298756950
|
|
NM_000548.5(TSC2):c.241C>T (p.Leu81Phe)
|
|
|
NM_000548.5(TSC2):c.2424G>C (p.Leu808Phe)
|
|
|
NM_000548.5(TSC2):c.2424G>T (p.Leu808Phe)
|
rs796053489
|
|
NM_000548.5(TSC2):c.2426C>A (p.Ser809Tyr)
|
rs2151350205
|
|
NM_000548.5(TSC2):c.2437G>T (p.Val813Leu)
|
rs375030314
|
|
NM_000548.5(TSC2):c.2443A>T (p.Met815Leu)
|
|
|
NM_000548.5(TSC2):c.2445G>C (p.Met815Ile)
|
|
|
NM_000548.5(TSC2):c.2449G>A (p.Asp817Asn)
|
|
|
NM_000548.5(TSC2):c.244_255del (p.Trp82_Val85del)
|
|
|
NM_000548.5(TSC2):c.2455A>G (p.Ile819Val)
|
rs1426302691
|
|
NM_000548.5(TSC2):c.2458A>C (p.Ile820Leu)
|
rs754451657
|
|
NM_000548.5(TSC2):c.2458A>G (p.Ile820Val)
|
rs754451657
|
|
NM_000548.5(TSC2):c.2467C>G (p.Leu823Val)
|
|
|
NM_000548.5(TSC2):c.2471C>A (p.Pro824His)
|
|
|
NM_000548.5(TSC2):c.2471C>G (p.Pro824Arg)
|
|
|
NM_000548.5(TSC2):c.2473G>C (p.Val825Leu)
|
rs149860212
|
|
NM_000548.5(TSC2):c.2473G>T (p.Val825Phe)
|
rs149860212
|
|
NM_000548.5(TSC2):c.247A>G (p.Lys83Glu)
|
|
|
NM_000548.5(TSC2):c.2482G>A (p.Val828Met)
|
rs150178524
|
|
NM_000548.5(TSC2):c.2486A>C (p.Lys829Thr)
|
rs1555507617
|
|
NM_000548.5(TSC2):c.248A>C (p.Lys83Thr)
|
|
|
NM_000548.5(TSC2):c.248A>G (p.Lys83Arg)
|
rs1267562998
|
|
NM_000548.5(TSC2):c.2493_2495dup (p.Thr831_His832insGln)
|
|
|
NM_000548.5(TSC2):c.2499C>G (p.Ile833Met)
|
|
|
NM_000548.5(TSC2):c.2500T>A (p.Ser834Thr)
|
|
|
NM_000548.5(TSC2):c.2504C>T (p.Ala835Val)
|
|
|
NM_000548.5(TSC2):c.2507C>T (p.Thr836Ile)
|
|
|
NM_000548.5(TSC2):c.250G>A (p.Ala84Thr)
|
|
|
NM_000548.5(TSC2):c.2515A>C (p.Met839Leu)
|
rs876660457
|
|
NM_000548.5(TSC2):c.2518G>A (p.Ala840Thr)
|
rs2151355372
|
|
NM_000548.5(TSC2):c.2521G>C (p.Val841Leu)
|
|
|
NM_000548.5(TSC2):c.2542T>C (p.Ser848Pro)
|
|
|
NM_000548.5(TSC2):c.2548C>G (p.Leu850Val)
|
rs2089256658
|
|
NM_000548.5(TSC2):c.2552C>T (p.Ala851Val)
|
rs1596364874
|
|
NM_000548.5(TSC2):c.2555G>A (p.Arg852Lys)
|
rs2151379894
|
|
NM_000548.5(TSC2):c.2561C>G (p.Pro854Arg)
|
rs1180511535
|
|
NM_000548.5(TSC2):c.2564A>G (p.His855Arg)
|
rs1424946987
|
|
NM_000548.5(TSC2):c.2566C>T (p.Leu856Phe)
|
rs1596364980
|
|
NM_000548.5(TSC2):c.2569T>G (p.Tyr857Asp)
|
|
|
NM_000548.5(TSC2):c.2570A>G (p.Tyr857Cys)
|
rs878854084
|
|
NM_000548.5(TSC2):c.2576A>C (p.Asn859Thr)
|
rs878854085
|
|
NM_000548.5(TSC2):c.2584G>T (p.Ala862Ser)
|
|
|
NM_000548.5(TSC2):c.2587G>A (p.Glu863Lys)
|
|
|
NM_000548.5(TSC2):c.2591A>G (p.Gln864Arg)
|
rs2151380945
|
|
NM_000548.5(TSC2):c.2596G>T (p.Ala866Ser)
|
rs1555508378
|
|
NM_000548.5(TSC2):c.2600G>A (p.Ser867Asn)
|
rs751702841
|
|
NM_000548.5(TSC2):c.2607C>A (p.Phe869Leu)
|
rs750336814
|
|
NM_000548.5(TSC2):c.2608G>A (p.Ala870Thr)
|
rs1060500975
|
|
NM_000548.5(TSC2):c.261T>A (p.Asp87Glu)
|
rs1555496967
|
|
NM_000548.5(TSC2):c.262C>G (p.Leu88Val)
|
|
|
NM_000548.5(TSC2):c.2630A>G (p.Asn877Ser)
|
rs1567482364
|
|
NM_000548.5(TSC2):c.2632C>G (p.Pro878Ala)
|
rs397515077
|
|
NM_000548.5(TSC2):c.2635T>A (p.Ser879Thr)
|
|
|
NM_000548.5(TSC2):c.2635_2637del (p.Ser879del)
|
|
|
NM_000548.5(TSC2):c.2638A>G (p.Lys880Glu)
|
rs2151382293
|
|
NM_000548.5(TSC2):c.2639A>G (p.Lys880Arg)
|
rs2089276233
|
|
NM_000548.5(TSC2):c.263T>G (p.Leu88Arg)
|
|
|
NM_000548.5(TSC2):c.2640-4T>C
|
rs1596366489
|
|
NM_000548.5(TSC2):c.2640-4_2640-3del
|
rs1555508570
|
|
NM_000548.5(TSC2):c.2640-5C>T
|
rs753781434
|
|
NM_000548.5(TSC2):c.2653A>C (p.Ile885Leu)
|
|
|
NM_000548.5(TSC2):c.2653A>G (p.Ile885Val)
|
rs1555508581
|
|
NM_000548.5(TSC2):c.2656G>A (p.Val886Met)
|
rs999523698
|
|
NM_000548.5(TSC2):c.2656G>C (p.Val886Leu)
|
rs999523698
|
|
NM_000548.5(TSC2):c.2662C>A (p.Leu888Met)
|
|
|
NM_000548.5(TSC2):c.2662C>G (p.Leu888Val)
|
|
|
NM_000548.5(TSC2):c.2671C>T (p.His891Tyr)
|
rs2089316693
|
|
NM_000548.5(TSC2):c.267G>T (p.Leu89Phe)
|
|
|
NM_000548.5(TSC2):c.2680G>A (p.Ala894Thr)
|
|
|
NM_000548.5(TSC2):c.2680G>C (p.Ala894Pro)
|
rs1379507306
|
|
NM_000548.5(TSC2):c.2683A>G (p.Met895Val)
|
rs45470695
|
|
NM_000548.5(TSC2):c.2683A>T (p.Met895Leu)
|
rs45470695
|
|
NM_000548.5(TSC2):c.268C>A (p.Gln90Lys)
|
|
|
NM_000548.5(TSC2):c.2690T>A (p.Phe897Tyr)
|
rs45517255
|
|
NM_000548.5(TSC2):c.2704C>T (p.Leu902=)
|
rs756696525
|
|
NM_000548.5(TSC2):c.2707C>A (p.Pro903Thr)
|
rs2089324682
|
|
NM_000548.5(TSC2):c.2707C>T (p.Pro903Ser)
|
rs2089324682
|
|
NM_000548.5(TSC2):c.2711T>G (p.Phe904Cys)
|
|
|
NM_000548.5(TSC2):c.2712C>A (p.Phe904Leu)
|
rs137920189
|
|
NM_000548.5(TSC2):c.2717A>C (p.Lys906Thr)
|
|
|
NM_000548.5(TSC2):c.2719G>A (p.Asp907Asn)
|
rs1287273870
|
|
NM_000548.5(TSC2):c.271C>A (p.Pro91Thr)
|
rs1555496979
|
|
NM_000548.5(TSC2):c.271C>T (p.Pro91Ser)
|
rs1555496979
|
|
NM_000548.5(TSC2):c.2728C>T (p.Pro910Ser)
|
rs1319146226
|
|
NM_000548.5(TSC2):c.2728_2729delinsAT (p.Pro910Ile)
|
|
|
NM_000548.5(TSC2):c.2729C>G (p.Pro910Arg)
|
|
|
NM_000548.5(TSC2):c.2737A>C (p.Thr913Pro)
|
|
|
NM_000548.5(TSC2):c.2737A>G (p.Thr913Ala)
|
|
|
NM_000548.5(TSC2):c.2740A>C (p.Lys914Gln)
|
rs1422374195
|
|
NM_000548.5(TSC2):c.2742+5dup
|
|
|
NM_000548.5(TSC2):c.274G>C (p.Glu92Gln)
|
|
|
NM_000548.5(TSC2):c.2755A>G (p.Asn919Asp)
|
|
|
NM_000548.5(TSC2):c.2758G>A (p.Val920Ile)
|
rs2151394156
|
|
NM_000548.5(TSC2):c.2758G>T (p.Val920Phe)
|
|
|
NM_000548.5(TSC2):c.2764T>G (p.Leu922Val)
|
rs2089404994
|
|
NM_000548.5(TSC2):c.2766G>C (p.Leu922Phe)
|
|
|
NM_000548.5(TSC2):c.2768C>T (p.Ser923Phe)
|
rs587778731
|
|
NM_000548.5(TSC2):c.2771T>C (p.Phe924Ser)
|
|
|
NM_000548.5(TSC2):c.2774A>G (p.Asp925Gly)
|
rs1555508942
|
|
NM_000548.5(TSC2):c.2776G>T (p.Asp926Tyr)
|
rs766039435
|
|
NM_000548.5(TSC2):c.2779A>G (p.Thr927Ala)
|
|
|
NM_000548.5(TSC2):c.2780C>T (p.Thr927Ile)
|
rs144329595
|
|
NM_000548.5(TSC2):c.2783C>G (p.Pro928Arg)
|
rs2151394997
|
|
NM_000548.5(TSC2):c.2786A>G (p.Glu929Gly)
|
rs2151395129
|
|
NM_000548.5(TSC2):c.2787G>T (p.Glu929Asp)
|
rs968144525
|
|
NM_000548.5(TSC2):c.2788A>G (p.Lys930Glu)
|
rs1596369527
|
|
NM_000548.5(TSC2):c.2788_2790delinsGAC (p.Lys930Asp)
|
rs1060500935
|
|
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln)
|
rs1222477746
|
|
NM_000548.5(TSC2):c.2804C>T (p.Ala935Val)
|
rs1555508975
|
|
NM_000548.5(TSC2):c.2811T>A (p.Ser937Arg)
|
|
|
NM_000548.5(TSC2):c.2813C>T (p.Thr938Ile)
|
|
|
NM_000548.5(TSC2):c.2818C>A (p.Leu940Ile)
|
|
|
NM_000548.5(TSC2):c.2818C>T (p.Leu940Phe)
|
rs1378325757
|
|
NM_000548.5(TSC2):c.2822A>C (p.Asn941Thr)
|
rs2089415203
|
|
NM_000548.5(TSC2):c.2825A>G (p.Glu942Gly)
|
rs1018951391
|
|
NM_000548.5(TSC2):c.2834A>C (p.Lys945Thr)
|
|
|
NM_000548.5(TSC2):c.2837+3A>G
|
|
|
NM_000548.5(TSC2):c.2838-2A>C
|
|
|
NM_000548.5(TSC2):c.2838-3T>G
|
rs553942147
|
|
NM_000548.5(TSC2):c.2838-47G>A
|
|
|
NM_000548.5(TSC2):c.2838-5G>A
|
rs876660419
|
|
NM_000548.5(TSC2):c.2840T>C (p.Leu947Pro)
|
rs1555509447
|
|
NM_000548.5(TSC2):c.2843G>C (p.Arg948Thr)
|
|
|
NM_000548.5(TSC2):c.2846T>C (p.Ile949Thr)
|
rs2089576147
|
|
NM_000548.5(TSC2):c.2848G>A (p.Ala950Thr)
|
|
|
NM_000548.5(TSC2):c.2849C>T (p.Ala950Val)
|
rs780737734
|
|
NM_000548.5(TSC2):c.284T>G (p.Leu95Arg)
|
rs2085369170
|
|
NM_000548.5(TSC2):c.2852G>C (p.Arg951Thr)
|
rs1216438701
|
|
NM_000548.5(TSC2):c.2854C>A (p.Pro952Thr)
|
rs745456980
|
|
NM_000548.5(TSC2):c.2854C>T (p.Pro952Ser)
|
rs745456980
|
|
NM_000548.5(TSC2):c.2855C>G (p.Pro952Arg)
|
rs2089578491
|
|
NM_000548.5(TSC2):c.2857C>A (p.Pro953Thr)
|
|
|
NM_000548.5(TSC2):c.2859del (p.Lys954fs)
|
|
|
NM_000548.5(TSC2):c.2859dup (p.Lys954fs)
|
rs796053504
|
|
NM_000548.5(TSC2):c.2863C>T (p.Gln955Ter)
|
rs1596374761
|
|
NM_000548.5(TSC2):c.2866G>A (p.Gly956Ser)
|
rs769199118
|
|
NM_000548.5(TSC2):c.2871G>C (p.Leu957Phe)
|
rs772755332
|
|
NM_000548.5(TSC2):c.2878T>C (p.Ser960Pro)
|
|
|
NM_000548.5(TSC2):c.2878T>G (p.Ser960Ala)
|
rs1005027685
|
|
NM_000548.5(TSC2):c.2880_2881del (p.Pro961fs)
|
rs2089583790
|
|
NM_000548.5(TSC2):c.2885C>T (p.Pro962Leu)
|
rs367640434
|
|
NM_000548.5(TSC2):c.2893G>T (p.Glu965Ter)
|
|
|
NM_000548.5(TSC2):c.2894A>C (p.Glu965Ala)
|
|
|
NM_000548.5(TSC2):c.2896T>G (p.Phe966Val)
|
|
|
NM_000548.5(TSC2):c.2902_2907del (p.Glu968_Ser969del)
|
rs1460562160
|
|
NM_000548.5(TSC2):c.2904G>C (p.Glu968Asp)
|
rs765438249
|
|
NM_000548.5(TSC2):c.2907C>G (p.Ser969Arg)
|
|
|
NM_000548.5(TSC2):c.2909C>G (p.Ser970Cys)
|
rs758447107
|
|
NM_000548.5(TSC2):c.2909C>T (p.Ser970Phe)
|
rs758447107
|
|
NM_000548.5(TSC2):c.2914G>A (p.Ala972Thr)
|
rs1567490981
|
|
NM_000548.5(TSC2):c.2919G>A (p.Glu973=)
|
|
|
NM_000548.5(TSC2):c.2920G>A (p.Ala974Thr)
|
rs556778889
|
|
NM_000548.5(TSC2):c.2921C>A (p.Ala974Asp)
|
|
|
NM_000548.5(TSC2):c.2921C>T (p.Ala974Val)
|
|
|
NM_000548.5(TSC2):c.2924T>C (p.Phe975Ser)
|
rs2151415659
|
|
NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro)
|
rs779832805
|
|
NM_000548.5(TSC2):c.292C>G (p.Arg98Gly)
|
|
|
NM_000548.5(TSC2):c.2930G>A (p.Cys977Tyr)
|
rs2089593473
|
|
NM_000548.5(TSC2):c.2930G>T (p.Cys977Phe)
|
|
|
NM_000548.5(TSC2):c.2932C>G (p.Arg978Gly)
|
rs768241596
|
|
NM_000548.5(TSC2):c.2933G>A (p.Arg978His)
|
rs876660733
|
|
NM_000548.5(TSC2):c.2933G>T (p.Arg978Leu)
|
rs876660733
|
|
NM_000548.5(TSC2):c.2938A>G (p.Ile980Val)
|
|
|
NM_000548.5(TSC2):c.2943T>G (p.Ser981Arg)
|
rs1596375342
|
|
NM_000548.5(TSC2):c.2944G>A (p.Val982Met)
|
|
|
NM_000548.5(TSC2):c.2947_2950dup (p.Glu984delinsValTer)
|
|
|
NM_000548.5(TSC2):c.2957T>G (p.Val986Gly)
|
rs1596375441
|
|
NM_000548.5(TSC2):c.2959G>A (p.Val987Ile)
|
rs2089598568
|
|
NM_000548.5(TSC2):c.2963G>A (p.Arg988His)
|
rs397515306
|
|
NM_000548.5(TSC2):c.2964C>T (p.Arg988=)
|
rs757274577
|
|
NM_000548.5(TSC2):c.2965_2966insT (p.Ser989fs)
|
|
|
NM_000548.5(TSC2):c.2966+4G>C
|
rs1235253082
|
|
NM_000548.5(TSC2):c.2966G>C (p.Ser989Thr)
|
rs1555509538
|
|
NM_000548.5(TSC2):c.2967-1G>T
|
rs1596382055
|
|
NM_000548.5(TSC2):c.2967-7_2967-3del
|
|
|
NM_000548.5(TSC2):c.2972T>C (p.Ile991Thr)
|
|
|
NM_000548.5(TSC2):c.2983C>A (p.Leu995Ile)
|
rs752248140
|
|
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser)
|
rs1440361406
|
|
NM_000548.5(TSC2):c.2996G>C (p.Ser999Thr)
|
rs149808366
|
|
NM_000548.5(TSC2):c.2999T>C (p.Leu1000Ser)
|
|
|
NM_000548.5(TSC2):c.2T>C (p.Met1Thr)
|
rs2084667702
|
|
NM_000548.5(TSC2):c.3003G>T (p.Gly1001=)
|
rs768864105
|
|
NM_000548.5(TSC2):c.3005C>A (p.Ser1002Tyr)
|
rs748261129
|
|
NM_000548.5(TSC2):c.3007G>A (p.Ala1003Thr)
|
rs1555510234
|
|
NM_000548.5(TSC2):c.3011A>C (p.Asp1004Ala)
|
rs2151431476
|
|
NM_000548.5(TSC2):c.3025G>A (p.Ala1009Thr)
|
|
|
NM_000548.5(TSC2):c.3028C>A (p.Gln1010Lys)
|
|
|
NM_000548.5(TSC2):c.3029A>G (p.Gln1010Arg)
|
|
|
NM_000548.5(TSC2):c.302T>C (p.Val101Ala)
|
rs2085372909
|
|
NM_000548.5(TSC2):c.302T>G (p.Val101Gly)
|
|
|
NM_000548.5(TSC2):c.3030G>C (p.Gln1010His)
|
rs776658284
|
|
NM_000548.5(TSC2):c.3031G>T (p.Ala1011Ser)
|
|
|
NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly)
|
rs1060500961
|
|
NM_000548.5(TSC2):c.3056A>C (p.His1019Pro)
|
rs1555510317
|
|
NM_000548.5(TSC2):c.3056A>G (p.His1019Arg)
|
rs1555510317
|
|
NM_000548.5(TSC2):c.3067A>G (p.Thr1023Ala)
|
rs2089798819
|
|
NM_000548.5(TSC2):c.3068C>T (p.Thr1023Met)
|
rs1555510327
|
|
NM_000548.5(TSC2):c.3077G>T (p.Cys1026Phe)
|
|
|
NM_000548.5(TSC2):c.3084C>A (p.Asp1028Glu)
|
|
|
NM_000548.5(TSC2):c.3085A>C (p.Met1029Leu)
|
|
|
NM_000548.5(TSC2):c.3085A>G (p.Met1029Val)
|
|
|
NM_000548.5(TSC2):c.3094C>G (p.Arg1032Gly)
|
rs45465195
|
|
NM_000548.5(TSC2):c.3095G>A (p.Arg1032Gln)
|
rs45491698
|
|
NM_000548.5(TSC2):c.3103T>G (p.Phe1035Val)
|
rs2151434349
|
|
NM_000548.5(TSC2):c.3105C>A (p.Phe1035Leu)
|
|
|
NM_000548.5(TSC2):c.310C>G (p.Leu104Val)
|
rs1596259554
|
|
NM_000548.5(TSC2):c.3116C>T (p.Thr1039Met)
|
rs1596382895
|
|
NM_000548.5(TSC2):c.3124C>T (p.Pro1042Ser)
|
|
|
NM_000548.5(TSC2):c.3125C>T (p.Pro1042Leu)
|
rs745731000
|
|
NM_000548.5(TSC2):c.3132-31C>T
|
|
|
NM_000548.5(TSC2):c.3134C>G (p.Ser1045Cys)
|
rs1567497647
|
|
NM_000548.5(TSC2):c.3143G>A (p.Gly1048Asp)
|
|
|
NM_000548.5(TSC2):c.3144C>T (p.Gly1048=)
|
rs772640324
|
|
NM_000548.5(TSC2):c.3152T>G (p.Leu1051Arg)
|
|
|
NM_000548.5(TSC2):c.3165C>G (p.Gly1055=)
|
|
|
NM_000548.5(TSC2):c.3169A>G (p.Thr1057Ala)
|
|
|
NM_000548.5(TSC2):c.316A>C (p.Lys106Gln)
|
rs796053501
|
|
NM_000548.5(TSC2):c.3170C>A (p.Thr1057Asn)
|
|
|
NM_000548.5(TSC2):c.3170C>T (p.Thr1057Ile)
|
rs1596383758
|
|
NM_000548.5(TSC2):c.3184G>T (p.Val1062Phe)
|
|
|
NM_000548.5(TSC2):c.3185T>G (p.Val1062Gly)
|
|
|
NM_000548.5(TSC2):c.3191A>T (p.Asn1064Ile)
|
|
|
NM_000548.5(TSC2):c.3192C>G (p.Asn1064Lys)
|
rs201670791
|
|
NM_000548.5(TSC2):c.3193A>G (p.Lys1065Glu)
|
rs751955670
|
|
NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe)
|
rs886051793
|
|
NM_000548.5(TSC2):c.31T>G (p.Leu11Val)
|
|
|
NM_000548.5(TSC2):c.3209C>G (p.Thr1070Arg)
|
|
|
NM_000548.5(TSC2):c.320C>A (p.Ala107Asp)
|
rs2085374926
|
|
NM_000548.5(TSC2):c.3211A>G (p.Thr1071Ala)
|
|
|
NM_000548.5(TSC2):c.3212C>T (p.Thr1071Ile)
|
rs45498892
|
|
NM_000548.5(TSC2):c.3215G>A (p.Ser1072Asn)
|
|
|
NM_000548.5(TSC2):c.3217G>A (p.Val1073Met)
|
rs749192298
|
|
NM_000548.5(TSC2):c.3217G>T (p.Val1073Leu)
|
|
|
NM_000548.5(TSC2):c.3223A>G (p.Thr1075Ala)
|
rs768568810
|
|
NM_000548.5(TSC2):c.322A>C (p.Ile108Leu)
|
|
|
NM_000548.5(TSC2):c.3236C>T (p.Ser1079Leu)
|
rs397515087
|
|
NM_000548.5(TSC2):c.3240A>T (p.Leu1080Phe)
|
|
|
NM_000548.5(TSC2):c.3244G>A (p.Gly1082Ser)
|
|
|
NM_000548.5(TSC2):c.3248T>G (p.Leu1083Arg)
|
|
|
NM_000548.5(TSC2):c.3250G>A (p.Asp1084Asn)
|
rs2151440238
|
|
NM_000548.5(TSC2):c.3253T>G (p.Ser1085Ala)
|
rs767655384
|
|
NM_000548.5(TSC2):c.3254C>G (p.Ser1085Trp)
|
|
|
NM_000548.5(TSC2):c.3256G>A (p.Gly1086Arg)
|
|
|
NM_000548.5(TSC2):c.3257_3259del (p.Gly1086del)
|
rs137854302
|
|
NM_000548.5(TSC2):c.3262C>G (p.Leu1088Val)
|
|
|
NM_000548.5(TSC2):c.3268T>C (p.Ser1090Pro)
|
rs1060500936
|
|
NM_000548.5(TSC2):c.3272G>T (p.Gly1091Val)
|
|
|
NM_000548.5(TSC2):c.3275C>A (p.Pro1092Gln)
|
|
|
NM_000548.5(TSC2):c.3275C>G (p.Pro1092Arg)
|
|
|
NM_000548.5(TSC2):c.3277G>C (p.Glu1093Gln)
|
|
|
NM_000548.5(TSC2):c.3280T>G (p.Ser1094Ala)
|
|
|
NM_000548.5(TSC2):c.3283A>T (p.Ser1095Cys)
|
|
|
NM_000548.5(TSC2):c.3284+3G>A
|
rs2089847916
|
|
NM_000548.5(TSC2):c.3285-3C>T
|
rs781023043
|
|
NM_000548.5(TSC2):c.3287C>G (p.Ser1096Cys)
|
rs140772300
|
|
NM_000548.5(TSC2):c.3290G>A (p.Ser1097Asn)
|
rs1060500912
|
|
NM_000548.5(TSC2):c.3291C>G (p.Ser1097Arg)
|
rs1173297358
|
|
NM_000548.5(TSC2):c.3292C>T (p.Pro1098Ser)
|
rs772686090
|
|
NM_000548.5(TSC2):c.3293C>G (p.Pro1098Arg)
|
rs773545852
|
|
NM_000548.5(TSC2):c.3298G>A (p.Val1100Met)
|
rs1596385749
|
|
NM_000548.5(TSC2):c.3298G>C (p.Val1100Leu)
|
rs1596385749
|
|
NM_000548.5(TSC2):c.3299T>G (p.Val1100Gly)
|
|
|
NM_000548.5(TSC2):c.3314C>T (p.Thr1105Ile)
|
rs946381749
|
|
NM_000548.5(TSC2):c.3317A>C (p.Lys1106Thr)
|
rs764113584
|
|
NM_000548.5(TSC2):c.331G>T (p.Gly111Trp)
|
rs1266039524
|
|
NM_000548.5(TSC2):c.3323C>T (p.Ala1108Val)
|
rs587781782
|
|
NM_000548.5(TSC2):c.3325C>G (p.Pro1109Ala)
|
rs1555510880
|
|
NM_000548.5(TSC2):c.3326C>A (p.Pro1109Gln)
|
|
|
NM_000548.5(TSC2):c.3326C>T (p.Pro1109Leu)
|
rs796053474
|
|
NM_000548.5(TSC2):c.3329C>G (p.Ala1110Gly)
|
rs1060500923
|
|
NM_000548.5(TSC2):c.3340_3351del (p.Ser1114_Gly1117del)
|
rs2089874614
|
|
NM_000548.5(TSC2):c.3344_3364dup (p.Gln1115_Ser1121dup)
|
rs1567500517
|
|
NM_000548.5(TSC2):c.3347C>G (p.Ala1116Gly)
|
rs878854092
|
|
NM_000548.5(TSC2):c.3347C>T (p.Ala1116Val)
|
rs878854092
|
|
NM_000548.5(TSC2):c.3356A>G (p.Gln1119Arg)
|
rs1567500641
|
|
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu)
|
rs1053311636
|
|
NM_000548.5(TSC2):c.3359T>C (p.Val1120Ala)
|
|
|
NM_000548.5(TSC2):c.335A>C (p.Gln112Pro)
|
|
|
NM_000548.5(TSC2):c.3362C>T (p.Ser1121Phe)
|
rs1596386254
|
|
NM_000548.5(TSC2):c.3365G>C (p.Arg1122Pro)
|
rs369536711
|
|
NM_000548.5(TSC2):c.3365G>T (p.Arg1122Leu)
|
rs369536711
|
|
NM_000548.5(TSC2):c.3367_3369delinsTGT (p.Gly1123Cys)
|
|
|
NM_000548.5(TSC2):c.337-5T>C
|
|
|
NM_000548.5(TSC2):c.3377_3382dup (p.Asp1126_Arg1127dup)
|
rs1387479871
|
|
NM_000548.5(TSC2):c.3385C>A (p.Arg1129Ser)
|
|
|
NM_000548.5(TSC2):c.338G>A (p.Gly113Asp)
|
|
|
NM_000548.5(TSC2):c.3393G>A (p.Met1131Ile)
|
|
|
NM_000548.5(TSC2):c.3398-2A>G
|
rs2151455445
|
|
NM_000548.5(TSC2):c.3398-3C>T
|
rs2089951550
|
|
NM_000548.5(TSC2):c.3400G>T (p.Gly1134Cys)
|
rs2089952201
|
|
NM_000548.5(TSC2):c.3403C>G (p.His1135Asp)
|
|
|
NM_000548.5(TSC2):c.3403C>T (p.His1135Tyr)
|
rs2151455693
|
|
NM_000548.5(TSC2):c.3406G>A (p.Gly1136Ser)
|
rs2089953185
|
|
NM_000548.5(TSC2):c.3413G>C (p.Arg1138Pro)
|
rs143168379
|
|
NM_000548.5(TSC2):c.3421_3453del (p.Ala1141_Gly1151del)
|
rs1114167467
|
|
NM_000548.5(TSC2):c.3424C>G (p.Leu1142Val)
|
rs1060504111
|
|
NM_000548.5(TSC2):c.3425T>C (p.Leu1142Pro)
|
rs796053513
|
|
NM_000548.5(TSC2):c.3428A>T (p.Asp1143Val)
|
rs796053495
|
|
NM_000548.5(TSC2):c.3430G>T (p.Val1144Leu)
|
rs45517294
|
|
NM_000548.5(TSC2):c.343C>T (p.Arg115Cys)
|
rs1256047792
|
|
NM_000548.5(TSC2):c.3443A>C (p.Gln1148Pro)
|
rs1217539900
|
|
NM_000548.5(TSC2):c.3447C>A (p.Phe1149Leu)
|
rs1265832990
|
|
NM_000548.5(TSC2):c.3447C>G (p.Phe1149Leu)
|
rs1265832990
|
|
NM_000548.5(TSC2):c.3449T>A (p.Leu1150Gln)
|
|
|
NM_000548.5(TSC2):c.344G>C (p.Arg115Pro)
|
rs764529584
|
|
NM_000548.5(TSC2):c.344G>T (p.Arg115Leu)
|
rs764529584
|
|
NM_000548.5(TSC2):c.3464C>T (p.Ser1155Phe)
|
rs1060500948
|
|
NM_000548.5(TSC2):c.3467C>T (p.Pro1156Leu)
|
rs144126969
|
|
NM_000548.5(TSC2):c.3469G>A (p.Gly1157Arg)
|
rs1555511390
|
|
NM_000548.5(TSC2):c.3470G>C (p.Gly1157Ala)
|
rs1477039147
|
|
NM_000548.5(TSC2):c.3472C>T (p.Pro1158Ser)
|
rs759350468
|
|
NM_000548.5(TSC2):c.3473C>A (p.Pro1158Gln)
|
|
|
NM_000548.5(TSC2):c.3473C>G (p.Pro1158Arg)
|
rs992338076
|
|
NM_000548.5(TSC2):c.347T>C (p.Leu116Ser)
|
|
|
NM_000548.5(TSC2):c.3481G>A (p.Ala1161Thr)
|
rs754177014
|
|
NM_000548.5(TSC2):c.3493A>C (p.Lys1165Gln)
|
|
|
NM_000548.5(TSC2):c.3493A>G (p.Lys1165Glu)
|
rs375444767
|
|
NM_000548.5(TSC2):c.3496C>A (p.Pro1166Thr)
|
|
|
NM_000548.5(TSC2):c.3496C>T (p.Pro1166Ser)
|
|
|
NM_000548.5(TSC2):c.3501G>C (p.Glu1167Asp)
|
rs2151459095
|
|
NM_000548.5(TSC2):c.3502A>G (p.Lys1168Glu)
|
|
|
NM_000548.5(TSC2):c.3502_3503delinsGC (p.Lys1168Ala)
|
|
|
NM_000548.5(TSC2):c.3503A>C (p.Lys1168Thr)
|
|
|
NM_000548.5(TSC2):c.3505G>A (p.Ala1169Thr)
|
rs773900333
|
|
NM_000548.5(TSC2):c.3509C>T (p.Ser1170Leu)
|
rs45517296
|
|
NM_000548.5(TSC2):c.350G>A (p.Gly117Glu)
|
rs1596264690
|
|
NM_000548.5(TSC2):c.3518C>G (p.Thr1173Ser)
|
|
|
NM_000548.5(TSC2):c.3527C>T (p.Pro1176Leu)
|
rs753110463
|
|
NM_000548.5(TSC2):c.3529G>A (p.Val1177Met)
|
rs1417220666
|
|
NM_000548.5(TSC2):c.3530T>A (p.Val1177Glu)
|
rs1567504468
|
|
NM_000548.5(TSC2):c.3535_3537del (p.Glu1179del)
|
rs1060500937
|
|
NM_000548.5(TSC2):c.3539A>C (p.Lys1180Thr)
|
|
|
NM_000548.5(TSC2):c.3539A>G (p.Lys1180Arg)
|
|
|
NM_000548.5(TSC2):c.353T>A (p.Val118Asp)
|
|
|
NM_000548.5(TSC2):c.3540G>T (p.Lys1180Asn)
|
rs1555511520
|
|
NM_000548.5(TSC2):c.3542C>G (p.Thr1181Arg)
|
rs373481458
|
|
NM_000548.5(TSC2):c.3557A>C (p.Tyr1186Ser)
|
rs137854421
|
|
NM_000548.5(TSC2):c.355C>T (p.Leu119Phe)
|
rs1596264734
|
|
NM_000548.5(TSC2):c.3562C>A (p.Pro1188Thr)
|
rs2151461242
|
|
NM_000548.5(TSC2):c.3562C>G (p.Pro1188Ala)
|
|
|
NM_000548.5(TSC2):c.3565C>G (p.Leu1189Val)
|
rs796053476
|
|
NM_000548.5(TSC2):c.3568C>A (p.Leu1190Met)
|
|
|
NM_000548.5(TSC2):c.3568C>G (p.Leu1190Val)
|
rs2151461483
|
|
NM_000548.5(TSC2):c.3575A>G (p.Gln1192Arg)
|
rs755559677
|
|
NM_000548.5(TSC2):c.3584C>G (p.Ala1195Gly)
|
rs773951533
|
|
NM_000548.5(TSC2):c.3589A>C (p.Ile1197Leu)
|
rs2089979590
|
|
NM_000548.5(TSC2):c.3589A>G (p.Ile1197Val)
|
rs2089979590
|
|
NM_000548.5(TSC2):c.3595G>A (p.Val1199Ile)
|
rs1596390891
|
|
NM_000548.5(TSC2):c.3599G>A (p.Arg1200Gln)
|
rs397515225
|
|
NM_000548.5(TSC2):c.359G>A (p.Arg120Lys)
|
rs2151040587
|
|
NM_000548.5(TSC2):c.3608C>T (p.Thr1203Ile)
|
|
|
NM_000548.5(TSC2):c.3610+4C>G
|
rs201978396
|
|
NM_000548.5(TSC2):c.3611-3C>T
|
rs753716627
|
|
NM_000548.5(TSC2):c.3611-5C>A
|
rs200194551
|
|
NM_000548.5(TSC2):c.3614A>C (p.Asn1205Thr)
|
|
|
NM_000548.5(TSC2):c.3614A>G (p.Asn1205Ser)
|
|
|
NM_000548.5(TSC2):c.3617C>G (p.Thr1206Ser)
|
rs2090150662
|
|
NM_000548.5(TSC2):c.362C>T (p.Ala121Val)
|
rs767755750
|
|
NM_000548.5(TSC2):c.3644C>T (p.Pro1215Leu)
|
rs933257311
|
|
NM_000548.5(TSC2):c.3646C>T (p.Leu1216Phe)
|
|
|
NM_000548.5(TSC2):c.3653C>A (p.Pro1218His)
|
|
|
NM_000548.5(TSC2):c.3656T>C (p.Phe1219Ser)
|
|
|
NM_000548.5(TSC2):c.3659C>T (p.Ser1220Phe)
|
rs2090155420
|
|
NM_000548.5(TSC2):c.365T>A (p.Leu122His)
|
rs756263581
|
|
NM_000548.5(TSC2):c.3664G>A (p.Asp1222Asn)
|
|
|
NM_000548.5(TSC2):c.3664G>T (p.Asp1222Tyr)
|
|
|
NM_000548.5(TSC2):c.3666C>G (p.Asp1222Glu)
|
|
|
NM_000548.5(TSC2):c.366CTT[1] (p.Phe124del)
|
rs1342475885
|
|
NM_000548.5(TSC2):c.3674A>G (p.Asn1225Ser)
|
rs1037743572
|
|
NM_000548.5(TSC2):c.3677T>C (p.Met1226Thr)
|
rs2090157003
|
|
NM_000548.5(TSC2):c.3679C>T (p.Pro1227Ser)
|
rs1555512392
|
|
NM_000548.5(TSC2):c.3680C>T (p.Pro1227Leu)
|
rs2090157247
|
|
NM_000548.5(TSC2):c.3680_3685del (p.Pro1227_Leu1228del)
|
|
|
NM_000548.5(TSC2):c.3686A>G (p.Gln1229Arg)
|
rs1060500962
|
|
NM_000548.5(TSC2):c.368T>C (p.Phe123Ser)
|
|
|
NM_000548.5(TSC2):c.3694T>G (p.Ser1232Ala)
|
|
|
NM_000548.5(TSC2):c.3698A>G (p.Asn1233Ser)
|
rs1412376534
|
|
NM_000548.5(TSC2):c.3699C>A (p.Asn1233Lys)
|
|
|
NM_000548.5(TSC2):c.36G>T (p.Lys12Asn)
|
rs1596233951
|
|
NM_000548.5(TSC2):c.3707T>C (p.Met1236Thr)
|
rs1567510644
|
|
NM_000548.5(TSC2):c.370T>C (p.Phe124Leu)
|
rs547231441
|
|
NM_000548.5(TSC2):c.3712G>T (p.Ala1238Ser)
|
|
|
NM_000548.5(TSC2):c.3719G>A (p.Arg1240His)
|
rs1567510707
|
|
NM_000548.5(TSC2):c.3725A>G (p.Lys1242Arg)
|
rs1567510728
|
|
NM_000548.5(TSC2):c.3725A>T (p.Lys1242Met)
|
|
|
NM_000548.5(TSC2):c.3730C>A (p.His1244Asn)
|
rs993614997
|
|
NM_000548.5(TSC2):c.3731A>T (p.His1244Leu)
|
|
|
NM_000548.5(TSC2):c.3736_3737insTGG (p.Arg1245_Asp1246insVal)
|
|
|
NM_000548.5(TSC2):c.3737_3738delinsGG (p.Asp1246Gly)
|
|
|
NM_000548.5(TSC2):c.373A>C (p.Lys125Gln)
|
|
|
NM_000548.5(TSC2):c.3740C>G (p.Thr1247Arg)
|
rs2151483328
|
|
NM_000548.5(TSC2):c.3763G>C (p.Val1255Leu)
|
rs1596400585
|
|
NM_000548.5(TSC2):c.3767C>T (p.Pro1256Leu)
|
rs1596400594
|
|
NM_000548.5(TSC2):c.3773C>G (p.Ala1258Gly)
|
rs1060500958
|
|
NM_000548.5(TSC2):c.3785A>G (p.Lys1262Arg)
|
rs765255206
|
|
NM_000548.5(TSC2):c.3791CTC[1] (p.Pro1265del)
|
rs876658759
|
|
NM_000548.5(TSC2):c.3796C>G (p.Leu1266Val)
|
|
|
NM_000548.5(TSC2):c.379A>G (p.Ile127Val)
|
rs1207714822
|
|
NM_000548.5(TSC2):c.37G>A (p.Glu13Lys)
|
rs1555494586
|
|
NM_000548.5(TSC2):c.3800C>T (p.Pro1267Leu)
|
rs1245115663
|
|
NM_000548.5(TSC2):c.3803G>T (p.Arg1268Leu)
|
rs200577441
|
|
NM_000548.5(TSC2):c.3808A>C (p.Asn1270His)
|
|
|
NM_000548.5(TSC2):c.3814+5G>A
|
rs1555512582
|
|
NM_000548.5(TSC2):c.3815-21_3819del
|
|
|
NM_000548.5(TSC2):c.3815-3C>G
|
rs770054036
|
|
NM_000548.5(TSC2):c.3815T>C (p.Val1272Ala)
|
|
|
NM_000548.5(TSC2):c.3815T>G (p.Val1272Gly)
|
rs1319528505
|
|
NM_000548.5(TSC2):c.3817G>A (p.Ala1273Thr)
|
rs1596404280
|
|
NM_000548.5(TSC2):c.3823T>C (p.Phe1275Leu)
|
rs2090258908
|
|
NM_000548.5(TSC2):c.3825C>A (p.Phe1275Leu)
|
rs761713908
|
|
NM_000548.5(TSC2):c.3835T>C (p.Tyr1279His)
|
rs1449727037
|
|
NM_000548.5(TSC2):c.3835dup (p.Tyr1279fs)
|
|
|
NM_000548.5(TSC2):c.3839A>T (p.Gln1280Leu)
|
rs1596404506
|
|
NM_000548.5(TSC2):c.383A>C (p.Lys128Thr)
|
|
|
NM_000548.5(TSC2):c.3844A>C (p.Ser1282Arg)
|
rs45446700
|
|
NM_000548.5(TSC2):c.3846_3847del (p.Ser1282fs)
|
|
|
NM_000548.5(TSC2):c.3847T>C (p.Cys1283Arg)
|
|
|
NM_000548.5(TSC2):c.3853G>A (p.Gly1285Arg)
|
rs2090264891
|
|
NM_000548.5(TSC2):c.3855A>G (p.Gly1285=)
|
rs891262541
|
|
NM_000548.5(TSC2):c.3856C>T (p.Gln1286Ter)
|
rs2151493215
|
|
NM_000548.5(TSC2):c.3863A>C (p.His1288Pro)
|
rs1567514069
|
|
NM_000548.5(TSC2):c.3863_3867delinsCC (p.His1288_Arg1289delinsPro)
|
|
|
NM_000548.5(TSC2):c.3865A>G (p.Arg1289Gly)
|
rs2090265922
|
|
NM_000548.5(TSC2):c.3867G>C (p.Arg1289Ser)
|
rs1008733639
|
|
NM_000548.5(TSC2):c.3867_3869del (p.Arg1289del)
|
rs1567514084
|
|
NM_000548.5(TSC2):c.3869G>C (p.Ser1290Thr)
|
|
|
NM_000548.5(TSC2):c.3870C>G (p.Ser1290Arg)
|
rs754466663
|
|
NM_000548.5(TSC2):c.3874T>C (p.Ser1292Pro)
|
rs1166042912
|
|
NM_000548.5(TSC2):c.3874T>G (p.Ser1292Ala)
|
|
|
NM_000548.5(TSC2):c.3875C>T (p.Ser1292Phe)
|
rs796053497
|
|
NM_000548.5(TSC2):c.3877T>C (p.Trp1293Arg)
|
|
|
NM_000548.5(TSC2):c.3877T>G (p.Trp1293Gly)
|
|
|
NM_000548.5(TSC2):c.3879G>T (p.Trp1293Cys)
|
|
|
NM_000548.5(TSC2):c.3881C>T (p.Ala1294Val)
|
|
|
NM_000548.5(TSC2):c.3883+3A>G
|
rs1366233650
|
|
NM_000548.5(TSC2):c.3884-3C>T
|
rs2090415795
|
|
NM_000548.5(TSC2):c.3884-4C>G
|
rs2151509808
|
|
NM_000548.5(TSC2):c.3884-5C>A
|
|
|
NM_000548.5(TSC2):c.3886_3942dup (p.Pro1314_Pro1315insSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluPro)
|
|
|
NM_000548.5(TSC2):c.3887C>T (p.Ser1296Phe)
|
rs1027773484
|
|
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val)
|
rs371239156
|
|
NM_000548.5(TSC2):c.3898A>G (p.Met1300Val)
|
rs1596411880
|
|
NM_000548.5(TSC2):c.3899T>C (p.Met1300Thr)
|
rs1349341137
|
|
NM_000548.5(TSC2):c.3899T>G (p.Met1300Arg)
|
|
|
NM_000548.5(TSC2):c.3900G>A (p.Met1300Ile)
|
rs1596411903
|
|
NM_000548.5(TSC2):c.3904G>A (p.Glu1302Lys)
|
|
|
NM_000548.5(TSC2):c.3910A>C (p.Ser1304Arg)
|
|
|
NM_000548.5(TSC2):c.3914C>A (p.Pro1305Gln)
|
rs45517320
|
|
NM_000548.5(TSC2):c.3916G>A (p.Gly1306Ser)
|
|
|
NM_000548.5(TSC2):c.3917G>A (p.Gly1306Asp)
|
rs1567518028
|
|
NM_000548.5(TSC2):c.391C>T (p.Pro131Ser)
|
rs777398393
|
|
NM_000548.5(TSC2):c.3920A>T (p.Glu1307Val)
|
|
|
NM_000548.5(TSC2):c.3921G>C (p.Glu1307Asp)
|
|
|
NM_000548.5(TSC2):c.3925C>T (p.Pro1309Ser)
|
rs1049538280
|
|
NM_000548.5(TSC2):c.3934G>A (p.Val1312Met)
|
rs201584397
|
|
NM_000548.5(TSC2):c.3935T>G (p.Val1312Gly)
|
|
|
NM_000548.5(TSC2):c.3940C>A (p.Pro1314Thr)
|
|
|
NM_000548.5(TSC2):c.3940C>T (p.Pro1314Ser)
|
rs771499212
|
|
NM_000548.5(TSC2):c.3943C>A (p.Pro1315Thr)
|
rs397514916
|
|
NM_000548.5(TSC2):c.3944C>T (p.Pro1315Leu)
|
rs775990159
|
|
NM_000548.5(TSC2):c.3950T>C (p.Leu1317Ser)
|
rs2090425460
|
|
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val)
|
rs45517322
|
|
NM_000548.5(TSC2):c.3957C>G (p.Asp1319Glu)
|
|
|
NM_000548.5(TSC2):c.3970C>G (p.Leu1324Val)
|
rs549060036
|
|
NM_000548.5(TSC2):c.3974G>T (p.Gly1325Val)
|
rs754680848
|
|
NM_000548.5(TSC2):c.3979G>C (p.Asp1327His)
|
|
|
NM_000548.5(TSC2):c.3980A>G (p.Asp1327Gly)
|
rs1555513553
|
|
NM_000548.5(TSC2):c.3981C>G (p.Asp1327Glu)
|
rs876659087
|
|
NM_000548.5(TSC2):c.3983G>A (p.Arg1328Lys)
|
rs112885324
|
|
NM_000548.5(TSC2):c.3986G>C (p.Arg1329Pro)
|
|
|
NM_000548.5(TSC2):c.39G>T (p.Glu13Asp)
|
rs766814650
|
|
NM_000548.5(TSC2):c.4001G>C (p.Ser1334Thr)
|
|
|
NM_000548.5(TSC2):c.4003A>T (p.Arg1335Trp)
|
|
|
NM_000548.5(TSC2):c.4005G>C (p.Arg1335Ser)
|
rs2090436302
|
|
NM_000548.5(TSC2):c.4006-5T>C
|
rs1596415173
|
|
NM_000548.5(TSC2):c.4007C>G (p.Ser1336Trp)
|
rs148527903
|
|
NM_000548.5(TSC2):c.4008_4010del (p.Ser1338del)
|
rs1567520255
|
|
NM_000548.5(TSC2):c.4009T>A (p.Ser1337Thr)
|
|
|
NM_000548.5(TSC2):c.400G>A (p.Glu134Lys)
|
rs1555497641
|
|
NM_000548.5(TSC2):c.4016T>A (p.Val1339Asp)
|
|
|
NM_000548.5(TSC2):c.4019C>G (p.Ser1340Cys)
|
rs753656246
|
|
NM_000548.5(TSC2):c.4025A>T (p.Gln1342Leu)
|
|
|
NM_000548.5(TSC2):c.4031A>G (p.Glu1344Gly)
|
rs2090482288
|
|
NM_000548.5(TSC2):c.4035G>C (p.Lys1345Asn)
|
rs1335576471
|
|
NM_000548.5(TSC2):c.4037C>G (p.Ser1346Trp)
|
|
|
NM_000548.5(TSC2):c.4040T>A (p.Leu1347His)
|
|
|
NM_000548.5(TSC2):c.4046C>A (p.Ala1349Glu)
|
rs201979616
|
|
NM_000548.5(TSC2):c.4049A>T (p.Glu1350Val)
|
rs1378842608
|
|
NM_000548.5(TSC2):c.4055T>A (p.Leu1352Gln)
|
|
|
NM_000548.5(TSC2):c.4057G>T (p.Val1353Phe)
|
rs373982157
|
|
NM_000548.5(TSC2):c.4061G>A (p.Gly1354Asp)
|
rs878854102
|
|
NM_000548.5(TSC2):c.4066G>A (p.Gly1356Ser)
|
|
|
NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val)
|
rs747104864
|
|
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu)
|
rs1555513920
|
|
NM_000548.5(TSC2):c.4070T>A (p.Ile1357Asn)
|
rs878854103
|
|
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr)
|
rs878854103
|
|
NM_000548.5(TSC2):c.4082G>C (p.Arg1361Pro)
|
rs762798984
|
|
NM_000548.5(TSC2):c.4089CTC[1] (p.Ser1365del)
|
rs755101865
|
|
NM_000548.5(TSC2):c.4090_4091delinsGT (p.Ser1364Val)
|
rs1060500956
|
|
NM_000548.5(TSC2):c.4091C>G (p.Ser1364Cys)
|
|
|
NM_000548.5(TSC2):c.4091C>T (p.Ser1364Phe)
|
|
|
NM_000548.5(TSC2):c.4093T>A (p.Ser1365Thr)
|
|
|
NM_000548.5(TSC2):c.4100G>A (p.Gly1367Asp)
|
rs1460776110
|
|
NM_000548.5(TSC2):c.4102G>A (p.Gly1368Ser)
|
rs1596415966
|
|
NM_000548.5(TSC2):c.4103G>A (p.Gly1368Asp)
|
rs1596415974
|
|
NM_000548.5(TSC2):c.4111T>A (p.Ser1371Thr)
|
|
|
NM_000548.5(TSC2):c.4114G>A (p.Val1372Met)
|
rs2090494113
|
|
NM_000548.5(TSC2):c.411C>G (p.His137Gln)
|
rs776129896
|
|
NM_000548.5(TSC2):c.4121T>G (p.Leu1374Arg)
|
rs2151523920
|
|
NM_000548.5(TSC2):c.4124C>G (p.Ser1375Cys)
|
rs145476528
|
|
NM_000548.5(TSC2):c.4127T>A (p.Phe1376Tyr)
|
|
|
NM_000548.5(TSC2):c.4128C>G (p.Phe1376Leu)
|
|
|
NM_000548.5(TSC2):c.4128C>T (p.Phe1376=)
|
rs1060504086
|
|
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys)
|
rs1173061992
|
|
NM_000548.5(TSC2):c.4131G>C (p.Gln1377His)
|
|
|
NM_000548.5(TSC2):c.4132C>A (p.Pro1378Thr)
|
rs1060500921
|
|
NM_000548.5(TSC2):c.4132C>G (p.Pro1378Ala)
|
rs1060500921
|
|
NM_000548.5(TSC2):c.4133C>G (p.Pro1378Arg)
|
rs1596416159
|
|
NM_000548.5(TSC2):c.4133C>T (p.Pro1378Leu)
|
|
|
NM_000548.5(TSC2):c.4139A>G (p.Gln1380Arg)
|
|
|
NM_000548.5(TSC2):c.413A>T (p.Glu138Val)
|
|
|
NM_000548.5(TSC2):c.4145T>A (p.Leu1382Gln)
|
|
|
NM_000548.5(TSC2):c.4149C>G (p.Ser1383Arg)
|
|
|
NM_000548.5(TSC2):c.4154C>G (p.Ser1385Cys)
|
|
|
NM_000548.5(TSC2):c.4157G>A (p.Ser1386Asn)
|
rs1555514071
|
|
NM_000548.5(TSC2):c.4157G>T (p.Ser1386Ile)
|
|
|
NM_000548.5(TSC2):c.4162T>G (p.Ser1388Ala)
|
|
|
NM_000548.5(TSC2):c.4163C>A (p.Ser1388Tyr)
|
|
|
NM_000548.5(TSC2):c.4163C>T (p.Ser1388Phe)
|
rs764039393
|
|
NM_000548.5(TSC2):c.4168G>A (p.Glu1390Lys)
|
rs397515033
|
|
NM_000548.5(TSC2):c.418C>G (p.Leu140Val)
|
rs1555497657
|
|
NM_000548.5(TSC2):c.4190T>C (p.Ile1397Thr)
|
rs2090503435
|
|
NM_000548.5(TSC2):c.4196G>T (p.Gly1399Val)
|
|
|
NM_000548.5(TSC2):c.4198G>A (p.Asp1400Asn)
|
rs762368225
|
|
NM_000548.5(TSC2):c.4201C>G (p.Pro1401Ala)
|
rs778147657
|
|
NM_000548.5(TSC2):c.4202C>G (p.Pro1401Arg)
|
rs1596416623
|
|
NM_000548.5(TSC2):c.4202C>T (p.Pro1401Leu)
|
rs1596416623
|
|
NM_000548.5(TSC2):c.4219G>C (p.Val1407Leu)
|
rs45517332
|
|
NM_000548.5(TSC2):c.4234C>T (p.Pro1412Ser)
|
rs1480313663
|
|
NM_000548.5(TSC2):c.4245G>T (p.Lys1415Asn)
|
rs1431882138
|
|
NM_000548.5(TSC2):c.4249C>G (p.Arg1417Gly)
|
rs774338461
|
|
NM_000548.5(TSC2):c.4249C>T (p.Arg1417Trp)
|
rs774338461
|
|
NM_000548.5(TSC2):c.4250G>A (p.Arg1417Gln)
|
rs1343536158
|
|
NM_000548.5(TSC2):c.4265C>A (p.Thr1422Asn)
|
rs760230300
|
|
NM_000548.5(TSC2):c.4268T>C (p.Leu1423Pro)
|
rs1567523138
|
|
NM_000548.5(TSC2):c.4270G>C (p.Asp1424His)
|
rs1216613310
|
|
NM_000548.5(TSC2):c.4271A>G (p.Asp1424Gly)
|
rs876659933
|
|
NM_000548.5(TSC2):c.4273G>C (p.Gly1425Arg)
|
rs763497329
|
|
NM_000548.5(TSC2):c.4274G>T (p.Gly1425Val)
|
|
|
NM_000548.5(TSC2):c.4277A>G (p.Glu1426Gly)
|
rs2090515740
|
|
NM_000548.5(TSC2):c.4280G>A (p.Ser1427Asn)
|
|
|
NM_000548.5(TSC2):c.4283C>T (p.Ala1428Val)
|
rs2151530908
|
|
NM_000548.5(TSC2):c.4288T>C (p.Trp1430Arg)
|
rs1596417336
|
|
NM_000548.5(TSC2):c.4289G>T (p.Trp1430Leu)
|
|
|
NM_000548.5(TSC2):c.4292C>G (p.Ser1431Trp)
|
rs375785710
|
|
NM_000548.5(TSC2):c.4298C>G (p.Ser1433Trp)
|
rs45517335
|
|
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp)
|
rs778925833
|
|
NM_000548.5(TSC2):c.4315_4316insTCG (p.Arg1438_Gly1439insVal)
|
rs1596417514
|
|
NM_000548.5(TSC2):c.4316G>C (p.Gly1439Ala)
|
|
|
NM_000548.5(TSC2):c.4325A>C (p.Glu1442Ala)
|
|
|
NM_000548.5(TSC2):c.4325A>T (p.Glu1442Val)
|
rs1204349917
|
|
NM_000548.5(TSC2):c.4337C>T (p.Pro1446Leu)
|
rs2090523005
|
|
NM_000548.5(TSC2):c.4342A>G (p.Ser1448Gly)
|
rs2090523420
|
|
NM_000548.5(TSC2):c.4346C>A (p.Ser1449Tyr)
|
|
|
NM_000548.5(TSC2):c.4349C>A (p.Pro1450His)
|
rs45517338
|
|
NM_000548.5(TSC2):c.4351C>A (p.Arg1451Ser)
|
rs369553241
|
|
NM_000548.5(TSC2):c.4357C>T (p.Pro1453Ser)
|
|
|
NM_000548.5(TSC2):c.4358C>T (p.Pro1453Leu)
|
|
|
NM_000548.5(TSC2):c.4361G>T (p.Ser1454Ile)
|
rs758233186
|
|
NM_000548.5(TSC2):c.4362T>G (p.Ser1454Arg)
|
rs1320400029
|
|
NM_000548.5(TSC2):c.4363G>A (p.Gly1455Ser)
|
|
|
NM_000548.5(TSC2):c.4366C>T (p.Leu1456Phe)
|
rs1199848222
|
|
NM_000548.5(TSC2):c.436C>T (p.Leu146Phe)
|
rs997604465
|
|
NM_000548.5(TSC2):c.4373C>T (p.Pro1458Leu)
|
|
|
NM_000548.5(TSC2):c.4376G>A (p.Arg1459Gln)
|
rs1555514409
|
|
NM_000548.5(TSC2):c.4378G>A (p.Gly1460Ser)
|
|
|
NM_000548.5(TSC2):c.4381T>A (p.Tyr1461Asn)
|
|
|
NM_000548.5(TSC2):c.4388T>A (p.Ile1463Asn)
|
|
|
NM_000548.5(TSC2):c.4391C>G (p.Ser1464Cys)
|
rs1596418078
|
|
NM_000548.5(TSC2):c.4393G>A (p.Asp1465Asn)
|
rs1425542648
|
|
NM_000548.5(TSC2):c.4397C>G (p.Ser1466Trp)
|
|
|
NM_000548.5(TSC2):c.4399G>T (p.Ala1467Ser)
|
rs774980656
|
|
NM_000548.5(TSC2):c.4405T>A (p.Ser1469Thr)
|
|
|
NM_000548.5(TSC2):c.4405T>G (p.Ser1469Ala)
|
rs907136617
|
|
NM_000548.5(TSC2):c.4411A>T (p.Arg1471Trp)
|
|
|
NM_000548.5(TSC2):c.4412G>A (p.Arg1471Lys)
|
|
|
NM_000548.5(TSC2):c.4412G>C (p.Arg1471Thr)
|
|
|
NM_000548.5(TSC2):c.4414G>C (p.Gly1472Arg)
|
|
|
NM_000548.5(TSC2):c.4417A>C (p.Lys1473Gln)
|
rs397515136
|
|
NM_000548.5(TSC2):c.4421G>A (p.Arg1474Lys)
|
rs2090535225
|
|
NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile)
|
rs1202676769
|
|
NM_000548.5(TSC2):c.4426G>C (p.Glu1476Gln)
|
rs376946970
|
|
NM_000548.5(TSC2):c.4427A>C (p.Glu1476Ala)
|
|
|
NM_000548.5(TSC2):c.4428G>C (p.Glu1476Asp)
|
rs765447466
|
|
NM_000548.5(TSC2):c.442G>C (p.Asp148His)
|
rs2151043628
|
|
NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr)
|
rs777529733
|
|
NM_000548.5(TSC2):c.4442A>G (p.Lys1481Arg)
|
rs2090538754
|
|
NM_000548.5(TSC2):c.4442A>T (p.Lys1481Met)
|
|
|
NM_000548.5(TSC2):c.4448G>A (p.Arg1483Lys)
|
|
|
NM_000548.5(TSC2):c.4450G>A (p.Ala1484Thr)
|
|
|
NM_000548.5(TSC2):c.445A>G (p.Asn149Asp)
|
rs878854107
|
|
NM_000548.5(TSC2):c.4462A>G (p.Asn1488Asp)
|
rs1203541600
|
|
NM_000548.5(TSC2):c.4463A>C (p.Asn1488Thr)
|
rs999699219
|
|
NM_000548.5(TSC2):c.4463A>G (p.Asn1488Ser)
|
rs999699219
|
|
NM_000548.5(TSC2):c.4466C>A (p.Ala1489Glu)
|
|
|
NM_000548.5(TSC2):c.4466C>T (p.Ala1489Val)
|
rs1596418744
|
|
NM_000548.5(TSC2):c.4470G>T (p.Glu1490Asp)
|
rs1221986548
|
|
NM_000548.5(TSC2):c.4477C>G (p.Pro1493Ala)
|
rs878854108
|
|
NM_000548.5(TSC2):c.4481G>A (p.Gly1494Asp)
|
|
|
NM_000548.5(TSC2):c.4485C>G (p.Ile1495Met)
|
rs1030218603
|
|
NM_000548.5(TSC2):c.448G>A (p.Gly150Arg)
|
|
|
NM_000548.5(TSC2):c.4494-3C>A
|
|
|
NM_000548.5(TSC2):c.4496T>G (p.Phe1499Cys)
|
rs1596422033
|
|
NM_000548.5(TSC2):c.4497C>G (p.Phe1499Leu)
|
rs372974007
|
|
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met)
|
rs397515167
|
|
NM_000548.5(TSC2):c.44T>G (p.Phe15Cys)
|
|
|
NM_000548.5(TSC2):c.4504C>A (p.Leu1502Met)
|
rs928525608
|
|
NM_000548.5(TSC2):c.4517A>T (p.His1506Leu)
|
rs2090581620
|
|
NM_000548.5(TSC2):c.4518T>G (p.His1506Gln)
|
|
|
NM_000548.5(TSC2):c.4520C>G (p.Ser1507Cys)
|
rs746246149
|
|
NM_000548.5(TSC2):c.4522_4524del (p.Pro1508del)
|
|
|
NM_000548.5(TSC2):c.4529T>C (p.Phe1510Ser)
|
|
|
NM_000548.5(TSC2):c.4531G>T (p.Gly1511Cys)
|
|
|
NM_000548.5(TSC2):c.4532G>A (p.Gly1511Asp)
|
rs2151544129
|
|
NM_000548.5(TSC2):c.4534G>C (p.Asp1512His)
|
rs774441486
|
|
NM_000548.5(TSC2):c.4536C>A (p.Asp1512Glu)
|
|
|
NM_000548.5(TSC2):c.4538A>G (p.Glu1513Gly)
|
rs1596422775
|
|
NM_000548.5(TSC2):c.4543A>G (p.Asn1515Asp)
|
|
|
NM_000548.5(TSC2):c.4546A>G (p.Lys1516Glu)
|
rs1596422969
|
|
NM_000548.5(TSC2):c.4549C>G (p.Pro1517Ala)
|
rs1057522800
|
|
NM_000548.5(TSC2):c.4554C>G (p.Ile1518Met)
|
rs1204199739
|
|
NM_000548.5(TSC2):c.4565A>T (p.Asn1522Ile)
|
rs144062721
|
|
NM_000548.5(TSC2):c.4566T>A (p.Asn1522Lys)
|
|
|
NM_000548.5(TSC2):c.4568A>C (p.Glu1523Ala)
|
rs777406873
|
|
NM_000548.5(TSC2):c.4569G>A (p.Glu1523=)
|
rs945456651
|
|
NM_000548.5(TSC2):c.4570-1_4572del
|
|
|
NM_000548.5(TSC2):c.4570-2A>G
|
rs2151549641
|
|
NM_000548.5(TSC2):c.4570-5C>T
|
|
|
NM_000548.5(TSC2):c.4571C>T (p.Ser1524Leu)
|
rs1441428144
|
|
NM_000548.5(TSC2):c.4573C>A (p.Gln1525Lys)
|
|
|
NM_000548.5(TSC2):c.4576T>A (p.Ser1526Thr)
|
rs1596426554
|
|
NM_000548.5(TSC2):c.4581T>A (p.Phe1527Leu)
|
rs745860116
|
|
NM_000548.5(TSC2):c.4582G>C (p.Glu1528Gln)
|
rs2090622255
|
|
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp)
|
rs199848388
|
|
NM_000548.5(TSC2):c.4585C>G (p.Arg1529Gly)
|
|
|
NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln)
|
rs769834772
|
|
NM_000548.5(TSC2):c.4589C>T (p.Ser1530Leu)
|
rs1567528487
|
|
NM_000548.5(TSC2):c.458T>A (p.Ile153Asn)
|
|
|
NM_000548.5(TSC2):c.4596G>A (p.Gln1532=)
|
|
|
NM_000548.5(TSC2):c.45T>G (p.Phe15Leu)
|
|
|
NM_000548.5(TSC2):c.4603G>C (p.Asp1535His)
|
rs45517353
|
|
NM_000548.5(TSC2):c.4605C>A (p.Asp1535Glu)
|
rs1555515283
|
|
NM_000548.5(TSC2):c.4610T>A (p.Ile1537Asn)
|
|
|
NM_000548.5(TSC2):c.4612C>G (p.Pro1538Ala)
|
rs1060500930
|
|
NM_000548.5(TSC2):c.4613C>A (p.Pro1538Gln)
|
rs753060862
|
|
NM_000548.5(TSC2):c.4613C>T (p.Pro1538Leu)
|
rs753060862
|
|
NM_000548.5(TSC2):c.461C>T (p.Thr154Ile)
|
rs1215092245
|
|
NM_000548.5(TSC2):c.4627C>T (p.His1543Tyr)
|
rs1567528890
|
|
NM_000548.5(TSC2):c.4629C>G (p.His1543Gln)
|
|
|
NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val)
|
rs878854109
|
|
NM_000548.5(TSC2):c.4633A>T (p.Ile1545Phe)
|
|
|
NM_000548.5(TSC2):c.4635C>G (p.Ile1545Met)
|
rs757388437
|
|
NM_000548.5(TSC2):c.4636G>T (p.Ala1546Ser)
|
rs1332979299
|
|
NM_000548.5(TSC2):c.4637C>T (p.Ala1546Val)
|
|
|
NM_000548.5(TSC2):c.464_466del (p.Tyr155del)
|
rs2085513777
|
|
NM_000548.5(TSC2):c.4657G>T (p.Gly1553Cys)
|
|
|
NM_000548.5(TSC2):c.4660C>A (p.Gln1554Lys)
|
|
|
NM_000548.5(TSC2):c.4664G>A (p.Ser1555Asn)
|
rs1354678802
|
|
NM_000548.5(TSC2):c.4666A>G (p.Asn1556Asp)
|
rs2151569260
|
|
NM_000548.5(TSC2):c.4670G>C (p.Ser1557Thr)
|
|
|
NM_000548.5(TSC2):c.4671C>G (p.Ser1557Arg)
|
rs151140709
|
|
NM_000548.5(TSC2):c.4675C>T (p.Leu1559Phe)
|
rs1327797297
|
|
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr)
|
rs777539610
|
|
NM_000548.5(TSC2):c.467T>C (p.Leu156Ser)
|
|
|
NM_000548.5(TSC2):c.4691A>C (p.Asn1564Thr)
|
|
|
NM_000548.5(TSC2):c.4691A>G (p.Asn1564Ser)
|
rs876659806
|
|
NM_000548.5(TSC2):c.4695G>C (p.Glu1565Asp)
|
rs762372483
|
|
NM_000548.5(TSC2):c.4696C>T (p.His1566Tyr)
|
rs1596438391
|
|
NM_000548.5(TSC2):c.4700G>A (p.Gly1567Asp)
|
rs45517364
|
|
NM_000548.5(TSC2):c.4703C>G (p.Ser1568Cys)
|
rs1555516036
|
|
NM_000548.5(TSC2):c.4708A>G (p.Arg1570Gly)
|
rs45517365
|
|
NM_000548.5(TSC2):c.4709G>A (p.Arg1570Lys)
|
rs397514980
|
|
NM_000548.5(TSC2):c.4714A>G (p.Thr1572Ala)
|
|
|
NM_000548.5(TSC2):c.4715C>T (p.Thr1572Met)
|
rs1327099376
|
|
NM_000548.5(TSC2):c.4722C>G (p.Phe1574Leu)
|
rs565576095
|
|
NM_000548.5(TSC2):c.4726A>G (p.Thr1576Ala)
|
|
|
NM_000548.5(TSC2):c.4727C>A (p.Thr1576Lys)
|
rs45437192
|
|
NM_000548.5(TSC2):c.4729G>A (p.Gly1577Ser)
|
rs796053499
|
|
NM_000548.5(TSC2):c.4732C>G (p.Leu1578Val)
|
rs917807471
|
|
NM_000548.5(TSC2):c.4736G>A (p.Gly1579Asp)
|
rs397515222
|
|
NM_000548.5(TSC2):c.4745T>C (p.Ile1582Thr)
|
rs2151572644
|
|
NM_000548.5(TSC2):c.4746C>G (p.Ile1582Met)
|
rs751305758
|
|
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys)
|
rs886039446
|
|
NM_000548.5(TSC2):c.474A>C (p.Glu158Asp)
|
|
|
NM_000548.5(TSC2):c.4750C>A (p.Leu1584Met)
|
|
|
NM_000548.5(TSC2):c.4751T>G (p.Leu1584Arg)
|
rs137854203
|
|
NM_000548.5(TSC2):c.4754A>G (p.Lys1585Arg)
|
|
|
NM_000548.5(TSC2):c.4758C>A (p.Asp1586Glu)
|
rs1366814192
|
|
NM_000548.5(TSC2):c.475G>A (p.Glu159Lys)
|
|
|
NM_000548.5(TSC2):c.4763A>G (p.Gln1588Arg)
|
|
|
NM_000548.5(TSC2):c.4764G>C (p.Gln1588His)
|
rs876659800
|
|
NM_000548.5(TSC2):c.4768G>T (p.Asp1590Tyr)
|
rs2090780462
|
|
NM_000548.5(TSC2):c.476A>T (p.Glu159Val)
|
rs1555497716
|
|
NM_000548.5(TSC2):c.4772A>C (p.Lys1591Thr)
|
|
|
NM_000548.5(TSC2):c.4772A>G (p.Lys1591Arg)
|
rs1596439144
|
|
NM_000548.5(TSC2):c.4780C>G (p.Leu1594Val)
|
|
|
NM_000548.5(TSC2):c.4784G>A (p.Gly1595Glu)
|
|
|
NM_000548.5(TSC2):c.4792G>T (p.Asp1598Tyr)
|
|
|
NM_000548.5(TSC2):c.4793A>T (p.Asp1598Val)
|
rs2151574689
|
|
NM_000548.5(TSC2):c.4794C>A (p.Asp1598Glu)
|
|
|
NM_000548.5(TSC2):c.4794C>G (p.Asp1598Glu)
|
rs548102930
|
|
NM_000548.5(TSC2):c.4795G>C (p.Val1599Leu)
|
rs772687631
|
|
NM_000548.5(TSC2):c.4795G>T (p.Val1599Leu)
|
|
|
NM_000548.5(TSC2):c.4796T>C (p.Val1599Ala)
|
|
|
NM_000548.5(TSC2):c.4802G>A (p.Gly1601Asp)
|
|
|
NM_000548.5(TSC2):c.4806G>T (p.Glu1602Asp)
|
rs1177233720
|
|
NM_000548.5(TSC2):c.4815G>T (p.Gln1605His)
|
|
|
NM_000548.5(TSC2):c.4817T>C (p.Phe1606Ser)
|
|
|
NM_000548.5(TSC2):c.482-4C>A
|
|
|
NM_000548.5(TSC2):c.4822T>A (p.Tyr1608Asn)
|
rs878854111
|
|
NM_000548.5(TSC2):c.4823A>C (p.Tyr1608Ser)
|
rs759795928
|
|
NM_000548.5(TSC2):c.4826G>A (p.Cys1609Tyr)
|
|
|
NM_000548.5(TSC2):c.4826G>T (p.Cys1609Phe)
|
rs1233744012
|
|
NM_000548.5(TSC2):c.4833C>G (p.His1611Gln)
|
|
|
NM_000548.5(TSC2):c.4834G>T (p.Asp1612Tyr)
|
rs886051795
|
|
NM_000548.5(TSC2):c.4840A>C (p.Ile1614Leu)
|
rs1555516299
|
|
NM_000548.5(TSC2):c.4843A>G (p.Met1615Val)
|
|
|
NM_000548.5(TSC2):c.4845G>T (p.Met1615Ile)
|
|
|
NM_000548.5(TSC2):c.4847A>G (p.Gln1616Arg)
|
rs1555516313
|
|
NM_000548.5(TSC2):c.4849+2T>C
|
|
|
NM_000548.5(TSC2):c.4849G>A (p.Ala1617Thr)
|
rs2090791005
|
|
NM_000548.5(TSC2):c.484G>T (p.Asp162Tyr)
|
|
|
NM_000548.5(TSC2):c.4850-5C>T
|
rs1596442866
|
|
NM_000548.5(TSC2):c.4850C>T (p.Ala1617Val)
|
rs1412545821
|
|
NM_000548.5(TSC2):c.4861A>G (p.Ile1621Val)
|
rs1555516628
|
|
NM_000548.5(TSC2):c.4863C>A (p.Ile1621=)
|
|
|
NM_000548.5(TSC2):c.4880C>A (p.Thr1627Asn)
|
rs1555438434
|
|
NM_000548.5(TSC2):c.4883A>C (p.Lys1628Thr)
|
|
|
NM_000548.5(TSC2):c.4889T>G (p.Val1630Gly)
|
|
|
NM_000548.5(TSC2):c.4891G>A (p.Asp1631Asn)
|
|
|
NM_000548.5(TSC2):c.4895A>C (p.Lys1632Thr)
|
|
|
NM_000548.5(TSC2):c.4897C>T (p.His1633Tyr)
|
|
|
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys)
|
rs760457821
|
|
NM_000548.5(TSC2):c.490G>A (p.Val164Ile)
|
|
|
NM_000548.5(TSC2):c.4910_4989+126dup
|
|
|
NM_000548.5(TSC2):c.4913A>C (p.Lys1638Thr)
|
|
|
NM_000548.5(TSC2):c.4916G>A (p.Arg1639His)
|
rs137854153
|
|
NM_000548.5(TSC2):c.4932C>G (p.Asp1644Glu)
|
rs1395198412
|
|
NM_000548.5(TSC2):c.4933T>C (p.Phe1645Leu)
|
rs1596443758
|
|
NM_000548.5(TSC2):c.4940C>G (p.Ser1647Cys)
|
rs2090863579
|
|
NM_000548.5(TSC2):c.4940C>T (p.Ser1647Phe)
|
rs2090863579
|
|
NM_000548.5(TSC2):c.4949A>G (p.Tyr1650Cys)
|
rs45501091
|
|
NM_000548.5(TSC2):c.4951A>G (p.Asn1651Asp)
|
rs2090865014
|
|
NM_000548.5(TSC2):c.4960G>T (p.Gly1654Cys)
|
rs771911660
|
|
NM_000548.5(TSC2):c.4971C>A (p.Phe1657Leu)
|
|
|
NM_000548.5(TSC2):c.4976T>G (p.Leu1659Arg)
|
rs2090868646
|
|
NM_000548.5(TSC2):c.4978G>A (p.Gly1660Ser)
|
|
|
NM_000548.5(TSC2):c.4979G>A (p.Gly1660Asp)
|
rs1189857262
|
|
NM_000548.5(TSC2):c.4979G>T (p.Gly1660Val)
|
rs1189857262
|
|
NM_000548.5(TSC2):c.497A>G (p.Gln166Arg)
|
|
|
NM_000548.5(TSC2):c.4984A>G (p.Ile1662Val)
|
rs2151589566
|
|
NM_000548.5(TSC2):c.4989G>A (p.Lys1663=)
|
rs1567124948
|
|
NM_000548.5(TSC2):c.4990-5G>T
|
rs753000765
|
|
NM_000548.5(TSC2):c.4990G>T (p.Gly1664Cys)
|
|
|
NM_000548.5(TSC2):c.4994A>G (p.Gln1665Arg)
|
rs747018176
|
|
NM_000548.5(TSC2):c.4995G>C (p.Gln1665His)
|
rs2091045745
|
|
NM_000548.5(TSC2):c.4999A>G (p.Asn1667Asp)
|
rs1182240785
|
|
NM_000548.5(TSC2):c.49A>G (p.Ile17Val)
|
rs1274194851
|
|
NM_000548.5(TSC2):c.4G>C (p.Ala2Pro)
|
|
|
NM_000548.5(TSC2):c.5003T>C (p.Phe1668Ser)
|
rs1555439678
|
|
NM_000548.5(TSC2):c.5004T>G (p.Phe1668Leu)
|
rs745787082
|
|
NM_000548.5(TSC2):c.5005G>T (p.Val1669Phe)
|
|
|
NM_000548.5(TSC2):c.5008C>G (p.His1670Asp)
|
rs1596454994
|
|
NM_000548.5(TSC2):c.5008C>T (p.His1670Tyr)
|
|
|
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys)
|
rs755728007
|
|
NM_000548.5(TSC2):c.5020A>G (p.Thr1674Ala)
|
|
|
NM_000548.5(TSC2):c.5021C>G (p.Thr1674Ser)
|
rs1555439727
|
|
NM_000548.5(TSC2):c.5026C>A (p.Leu1676Met)
|
rs201707249
|
|
NM_000548.5(TSC2):c.5029G>T (p.Asp1677Tyr)
|
|
|
NM_000548.5(TSC2):c.502A>C (p.Met168Leu)
|
rs779566253
|
|
NM_000548.5(TSC2):c.502A>T (p.Met168Leu)
|
|
|
NM_000548.5(TSC2):c.5031C>G (p.Asp1677Glu)
|
|
|
NM_000548.5(TSC2):c.5035G>C (p.Glu1679Gln)
|
rs370404391
|
|
NM_000548.5(TSC2):c.5036A>C (p.Glu1679Ala)
|
rs1389903110
|
|
NM_000548.5(TSC2):c.5037G>C (p.Glu1679Asp)
|
|
|
NM_000548.5(TSC2):c.5038T>A (p.Cys1680Ser)
|
rs1555439802
|
|
NM_000548.5(TSC2):c.5047G>C (p.Val1683Leu)
|
rs1596455392
|
|
NM_000548.5(TSC2):c.504G>A (p.Met168Ile)
|
|
|
NM_000548.5(TSC2):c.5057A>G (p.Gln1686Arg)
|
rs397514983
|
|
NM_000548.5(TSC2):c.5059T>C (p.Cys1687Arg)
|
|
|
NM_000548.5(TSC2):c.505G>A (p.Asp169Asn)
|
rs2085657148
|
|
NM_000548.5(TSC2):c.5060G>A (p.Cys1687Tyr)
|
rs2091058156
|
|
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr)
|
rs397515110
|
|
NM_000548.5(TSC2):c.5073G>A (p.Met1691Ile)
|
rs2091087331
|
|
NM_000548.5(TSC2):c.5077G>A (p.Gly1693Ser)
|
rs2091088245
|
|
NM_000548.5(TSC2):c.5078G>A (p.Gly1693Asp)
|
|
|
NM_000548.5(TSC2):c.5084T>C (p.Val1695Ala)
|
|
|
NM_000548.5(TSC2):c.5089A>G (p.Thr1697Ala)
|
rs2151620482
|
|
NM_000548.5(TSC2):c.5090C>A (p.Thr1697Asn)
|
rs777223264
|
|
NM_000548.5(TSC2):c.5092A>C (p.Ser1698Arg)
|
|
|
NM_000548.5(TSC2):c.50T>G (p.Ile17Ser)
|
|
|
NM_000548.5(TSC2):c.5103G>C (p.Lys1701Asn)
|
|
|
NM_000548.5(TSC2):c.5108T>C (p.Val1703Ala)
|
rs45498401
|
|
NM_000548.5(TSC2):c.5110T>C (p.Ser1704Pro)
|
rs45474691
|
|
NM_000548.5(TSC2):c.5115C>A (p.Asp1705Glu)
|
rs1385591764
|
|
NM_000548.5(TSC2):c.5115C>G (p.Asp1705Glu)
|
rs1385591764
|
|
NM_000548.5(TSC2):c.5116C>A (p.Arg1706Ser)
|
|
|
NM_000548.5(TSC2):c.5116C>G (p.Arg1706Gly)
|
rs45517391
|
|
NM_000548.5(TSC2):c.5117G>T (p.Arg1706Leu)
|
rs45517392
|
|
NM_000548.5(TSC2):c.5119A>C (p.Asn1707His)
|
rs1300582033
|
|
NM_000548.5(TSC2):c.5120A>C (p.Asn1707Thr)
|
|
|
NM_000548.5(TSC2):c.512G>A (p.Gly171Asp)
|
rs983899092
|
|
NM_000548.5(TSC2):c.5131G>C (p.Val1711Leu)
|
rs139779505
|
|
NM_000548.5(TSC2):c.5137C>A (p.Arg1713Ser)
|
rs759420443
|
|
NM_000548.5(TSC2):c.5143A>G (p.Met1715Val)
|
rs397514974
|
|
NM_000548.5(TSC2):c.5144T>A (p.Met1715Lys)
|
rs758246234
|
|
NM_000548.5(TSC2):c.5149C>G (p.Leu1717Val)
|
rs1555440199
|
|
NM_000548.5(TSC2):c.514T>G (p.Leu172Val)
|
|
|
NM_000548.5(TSC2):c.5152C>T (p.His1718Tyr)
|
rs1567130289
|
|
NM_000548.5(TSC2):c.5153A>T (p.His1718Leu)
|
|
|
NM_000548.5(TSC2):c.5161-3C>T
|
rs1410204953
|
|
NM_000548.5(TSC2):c.5161-5C>T
|
rs775534948
|
|
NM_000548.5(TSC2):c.5163G>A (p.Met1721Ile)
|
|
|
NM_000548.5(TSC2):c.5168C>T (p.Ser1723Leu)
|
|
|
NM_000548.5(TSC2):c.5170C>G (p.Gln1724Glu)
|
rs45472701
|
|
NM_000548.5(TSC2):c.5171A>G (p.Gln1724Arg)
|
rs923367492
|
|
NM_000548.5(TSC2):c.5173G>T (p.Val1725Leu)
|
|
|
NM_000548.5(TSC2):c.5176C>T (p.His1726Tyr)
|
rs761618860
|
|
NM_000548.5(TSC2):c.5177A>C (p.His1726Pro)
|
rs1555440475
|
|
NM_000548.5(TSC2):c.5180A>G (p.His1727Arg)
|
rs1596460080
|
|
NM_000548.5(TSC2):c.5183G>T (p.Ser1728Ile)
|
rs1596460117
|
|
NM_000548.5(TSC2):c.5184C>G (p.Ser1728Arg)
|
rs397514955
|
|
NM_000548.5(TSC2):c.5188T>C (p.Ser1730Pro)
|
rs2151628975
|
|
NM_000548.5(TSC2):c.5189C>G (p.Ser1730Cys)
|
rs2091134565
|
|
NM_000548.5(TSC2):c.518C>T (p.Ser173Phe)
|
rs773662047
|
|
NM_000548.5(TSC2):c.5191A>C (p.Asn1731His)
|
rs1555440500
|
|
NM_000548.5(TSC2):c.5193C>A (p.Asn1731Lys)
|
rs753336580
|
|
NM_000548.5(TSC2):c.5194C>G (p.Pro1732Ala)
|
rs759007975
|
|
NM_000548.5(TSC2):c.5195C>T (p.Pro1732Leu)
|
|
|
NM_000548.5(TSC2):c.5197A>G (p.Thr1733Ala)
|
rs1596460327
|
|
NM_000548.5(TSC2):c.5197_5211del (p.Thr1733_Pro1737del)
|
rs1555440518
|
|
NM_000548.5(TSC2):c.5200_5202delinsAAC (p.Asp1734Asn)
|
rs1596460422
|
|
NM_000548.5(TSC2):c.5201A>C (p.Asp1734Ala)
|
rs878854117
|
|
NM_000548.5(TSC2):c.5201A>T (p.Asp1734Val)
|
rs878854117
|
|
NM_000548.5(TSC2):c.5204T>G (p.Ile1735Ser)
|
rs786203769
|
|
NM_000548.5(TSC2):c.5207A>G (p.Tyr1736Cys)
|
|
|
NM_000548.5(TSC2):c.5209C>G (p.Pro1737Ala)
|
rs780112037
|
|
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser)
|
rs137854219
|
|
NM_000548.5(TSC2):c.5220G>T (p.Trp1740Cys)
|
rs45517411
|
|
NM_000548.5(TSC2):c.5221A>T (p.Ile1741Phe)
|
|
|
NM_000548.5(TSC2):c.5222T>C (p.Ile1741Thr)
|
rs935521633
|
|
NM_000548.5(TSC2):c.5225C>T (p.Ala1742Val)
|
rs1369101862
|
|
NM_000548.5(TSC2):c.5238_5255dup (p.His1746_Arg1751dup)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5239A>G (p.Ile1747Val)
|
|
|
NM_000548.5(TSC2):c.523G>A (p.Glu175Lys)
|
rs1555498151
|
|
NM_000548.5(TSC2):c.5243A>C (p.Lys1748Thr)
|
|
|
NM_000548.5(TSC2):c.5246G>A (p.Arg1749Gln)
|
rs1555440785
|
|
NM_000548.5(TSC2):c.5255A>C (p.Gln1752Pro)
|
|
|
NM_000548.5(TSC2):c.5257C>T (p.Arg1753Trp)
|
rs756358402
|
|
NM_000548.5(TSC2):c.5259+1G>A
|
|
|
NM_000548.5(TSC2):c.5259+2_5259+28del
|
rs759520580
|
|
NM_000548.5(TSC2):c.5260-1G>A
|
rs1057518103
|
|
NM_000548.5(TSC2):c.5260-3C>T
|
|
|
NM_000548.5(TSC2):c.5260-9_5279del
|
rs967037646
|
|
NM_000548.5(TSC2):c.5261T>G (p.Ile1754Ser)
|
rs762320484
|
|
NM_000548.5(TSC2):c.5264G>T (p.Cys1755Phe)
|
rs761162904
|
|
NM_000548.5(TSC2):c.5265C>G (p.Cys1755Trp)
|
rs141449031
|
|
NM_000548.5(TSC2):c.5266G>T (p.Glu1756Ter)
|
|
|
NM_000548.5(TSC2):c.5268G>C (p.Glu1756Asp)
|
rs755229386
|
|
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys)
|
rs1060500957
|
|
NM_000548.5(TSC2):c.5273C>T (p.Ala1758Val)
|
rs547597044
|
|
NM_000548.5(TSC2):c.5278T>C (p.Tyr1760His)
|
rs2151638289
|
|
NM_000548.5(TSC2):c.5279A>C (p.Tyr1760Ser)
|
rs1261020269
|
|
NM_000548.5(TSC2):c.5284A>C (p.Asn1762His)
|
|
|
NM_000548.5(TSC2):c.5293C>G (p.Leu1765Val)
|
rs1060500954
|
|
NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu)
|
rs748936673
|
|
NM_000548.5(TSC2):c.5306A>G (p.His1769Arg)
|
rs1567133809
|
|
NM_000548.5(TSC2):c.5309C>T (p.Pro1770Leu)
|
rs771357054
|
|
NM_000548.5(TSC2):c.530T>G (p.Leu177Arg)
|
|
|
NM_000548.5(TSC2):c.5317C>A (p.His1773Asn)
|
rs1030998097
|
|
NM_000548.5(TSC2):c.5318A>T (p.His1773Leu)
|
rs45517418
|
|
NM_000548.5(TSC2):c.5320A>C (p.Ser1774Arg)
|
|
|
NM_000548.5(TSC2):c.5321G>T (p.Ser1774Ile)
|
|
|
NM_000548.5(TSC2):c.5325A>C (p.Lys1775Asn)
|
|
|
NM_000548.5(TSC2):c.5329C>G (p.Pro1777Ala)
|
rs781226141
|
|
NM_000548.5(TSC2):c.5330C>T (p.Pro1777Leu)
|
|
|
NM_000548.5(TSC2):c.5335C>G (p.Gln1779Glu)
|
|
|
NM_000548.5(TSC2):c.5337G>C (p.Gln1779His)
|
rs768237144
|
|
NM_000548.5(TSC2):c.5338A>C (p.Thr1780Pro)
|
rs989487316
|
|
NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu)
|
rs878854119
|
|
NM_000548.5(TSC2):c.5344G>A (p.Ala1782Thr)
|
rs1405712076
|
|
NM_000548.5(TSC2):c.5344G>T (p.Ala1782Ser)
|
rs1405712076
|
|
NM_000548.5(TSC2):c.5347G>C (p.Glu1783Gln)
|
|
|
NM_000548.5(TSC2):c.5348A>C (p.Glu1783Ala)
|
|
|
NM_000548.5(TSC2):c.5348A>G (p.Glu1783Gly)
|
rs1555441444
|
|
NM_000548.5(TSC2):c.5356C>T (p.Pro1786Ser)
|
rs371543182
|
|
NM_000548.5(TSC2):c.535G>A (p.Val179Met)
|
rs777105764
|
|
NM_000548.5(TSC2):c.5363A>T (p.Tyr1788Phe)
|
rs397515221
|
|
NM_000548.5(TSC2):c.5364T>A (p.Tyr1788Ter)
|
|
|
NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp)
|
rs966695764
|
|
NM_000548.5(TSC2):c.5369T>G (p.Val1790Gly)
|
rs1596464243
|
|
NM_000548.5(TSC2):c.5372G>A (p.Gly1791Asp)
|
rs2091211512
|
|
NM_000548.5(TSC2):c.5375A>G (p.Gln1792Arg)
|
|
|
NM_000548.5(TSC2):c.5377C>G (p.Arg1793Gly)
|
rs1473538868
|
|
NM_000548.5(TSC2):c.5380_5382dup (p.Lys1794dup)
|
rs137854335
|
|
NM_000548.5(TSC2):c.5381A>C (p.Lys1794Thr)
|
|
|
NM_000548.5(TSC2):c.5386C>G (p.Leu1796Val)
|
|
|
NM_000548.5(TSC2):c.5390T>G (p.Ile1797Ser)
|
|
|
NM_000548.5(TSC2):c.5391CTC[1] (p.Ser1799del)
|
rs796053480
|
|
NM_000548.5(TSC2):c.5392T>A (p.Ser1798Thr)
|
|
|
NM_000548.5(TSC2):c.5393C>T (p.Ser1798Phe)
|
rs2091216208
|
|
NM_000548.5(TSC2):c.5395_5397del (p.Ser1799del)
|
rs2151642647
|
|
NM_000548.5(TSC2):c.5398G>A (p.Val1800Met)
|
|
|
NM_000548.5(TSC2):c.539T>A (p.Leu180Gln)
|
rs1567403610
|
|
NM_000548.5(TSC2):c.5404G>A (p.Asp1802Asn)
|
rs1596464614
|
|
NM_000548.5(TSC2):c.5404G>T (p.Asp1802Tyr)
|
|
|
NM_000548.5(TSC2):c.5405A>C (p.Asp1802Ala)
|
|
|
NM_000548.5(TSC2):c.5406C>G (p.Asp1802Glu)
|
|
|
NM_000548.5(TSC2):c.5407T>C (p.Phe1803Leu)
|
|
|
NM_000548.5(TSC2):c.5408T>C (p.Phe1803Ser)
|
rs2151643160
|
|
NM_000548.5(TSC2):c.5410A>G (p.Thr1804Ala)
|
|
|
NM_000548.5(TSC2):c.5413G>T (p.Glu1805Ter)
|
|
|
NM_000548.5(TSC2):c.5415G>C (p.Glu1805Asp)
|
rs982803529
|
|
NM_000548.5(TSC2):c.5417T>G (p.Phe1806Cys)
|
|
|
NM_000548.5(TSC2):c.5422T>A (p.Ter1808Arg)
|
rs1567135442
|
|
NM_000548.5(TSC2):c.5422T>C (p.Ter1808Arg)
|
|
|
NM_000548.5(TSC2):c.542T>C (p.Val181Ala)
|
|
|
NM_000548.5(TSC2):c.549G>C (p.Leu183Phe)
|
rs1415519717
|
|
NM_000548.5(TSC2):c.559A>C (p.Asn187His)
|
|
|
NM_000548.5(TSC2):c.563G>A (p.Ser188Asn)
|
|
|
NM_000548.5(TSC2):c.566G>C (p.Cys189Ser)
|
rs764218079
|
|
NM_000548.5(TSC2):c.571C>G (p.Leu191Val)
|
rs1555498201
|
|
NM_000548.5(TSC2):c.577G>C (p.Glu193Gln)
|
|
|
NM_000548.5(TSC2):c.581A>G (p.Tyr194Cys)
|
rs1555498219
|
|
NM_000548.5(TSC2):c.585C>G (p.Ile195Met)
|
rs397515309
|
|
NM_000548.5(TSC2):c.586G>T (p.Ala196Ser)
|
|
|
NM_000548.5(TSC2):c.58G>A (p.Gly20Arg)
|
rs1596234105
|
|
NM_000548.5(TSC2):c.594G>A (p.Met198Ile)
|
rs1452242351
|
|
NM_000548.5(TSC2):c.599+3A>G
|
rs397514899
|
|
NM_000548.5(TSC2):c.599A>G (p.Gln200Arg)
|
rs2085677930
|
|
NM_000548.5(TSC2):c.600-5T>C
|
rs779176291
|
|
NM_000548.5(TSC2):c.600G>C (p.Gln200His)
|
rs1596275209
|
|
NM_000548.5(TSC2):c.601A>G (p.Met201Val)
|
rs1596275224
|
|
NM_000548.5(TSC2):c.601A>T (p.Met201Leu)
|
rs1596275224
|
|
NM_000548.5(TSC2):c.602T>C (p.Met201Thr)
|
rs2151070731
|
|
NM_000548.5(TSC2):c.613C>G (p.Leu205Val)
|
rs1596275276
|
|
NM_000548.5(TSC2):c.614T>C (p.Leu205Pro)
|
rs2085789314
|
|
NM_000548.5(TSC2):c.629C>A (p.Ala210Glu)
|
|
|
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe)
|
rs878854120
|
|
NM_000548.5(TSC2):c.648+5G>A
|
rs2085796888
|
|
NM_000548.5(TSC2):c.649G>A (p.Val217Ile)
|
rs1567407896
|
|
NM_000548.5(TSC2):c.655C>G (p.Leu219Val)
|
rs369046625
|
|
NM_000548.5(TSC2):c.668A>G (p.Asp223Gly)
|
|
|
NM_000548.5(TSC2):c.670G>A (p.Ala224Thr)
|
rs772558666
|
|
NM_000548.5(TSC2):c.670G>T (p.Ala224Ser)
|
rs772558666
|
|
NM_000548.5(TSC2):c.671C>A (p.Ala224Asp)
|
|
|
NM_000548.5(TSC2):c.674T>C (p.Val225Ala)
|
rs1437259556
|
|
NM_000548.5(TSC2):c.680_682del (p.Cys227del)
|
rs2151078439
|
|
NM_000548.5(TSC2):c.683A>G (p.Tyr228Cys)
|
rs2085882405
|
|
NM_000548.5(TSC2):c.688T>A (p.Cys230Ser)
|
rs1043187800
|
|
NM_000548.5(TSC2):c.689G>A (p.Cys230Tyr)
|
|
|
NM_000548.5(TSC2):c.695C>G (p.Pro232Arg)
|
|
|
NM_000548.5(TSC2):c.704G>C (p.Ser235Thr)
|
rs397514957
|
|
NM_000548.5(TSC2):c.706C>G (p.Leu236Val)
|
|
|
NM_000548.5(TSC2):c.709C>G (p.Pro237Ala)
|
rs1555498859
|
|
NM_000548.5(TSC2):c.709C>T (p.Pro237Ser)
|
rs1555498859
|
|
NM_000548.5(TSC2):c.710C>G (p.Pro237Arg)
|
rs139060277
|
|
NM_000548.5(TSC2):c.712C>G (p.Leu238Val)
|
|
|
NM_000548.5(TSC2):c.713T>G (p.Leu238Arg)
|
|
|
NM_000548.5(TSC2):c.717C>G (p.Phe239Leu)
|
rs1567408727
|
|
NM_000548.5(TSC2):c.718A>G (p.Ile240Val)
|
rs796053482
|
|
NM_000548.5(TSC2):c.718A>T (p.Ile240Phe)
|
rs796053482
|
|
NM_000548.5(TSC2):c.71C>G (p.Pro24Arg)
|
|
|
NM_000548.5(TSC2):c.71C>T (p.Pro24Leu)
|
rs868467487
|
|
NM_000548.5(TSC2):c.721G>C (p.Val241Leu)
|
rs200943828
|
|
NM_000548.5(TSC2):c.722T>C (p.Val241Ala)
|
rs888878542
|
|
NM_000548.5(TSC2):c.725C>A (p.Thr242Asn)
|
rs1007232729
|
|
NM_000548.5(TSC2):c.725C>T (p.Thr242Ile)
|
rs1007232729
|
|
NM_000548.5(TSC2):c.733C>G (p.Arg245Gly)
|
rs375574283
|
|
NM_000548.5(TSC2):c.734G>C (p.Arg245Pro)
|
|
|
NM_000548.5(TSC2):c.746T>C (p.Val249Ala)
|
rs1596278719
|
|
NM_000548.5(TSC2):c.74G>A (p.Arg25Lys)
|
rs759867905
|
|
NM_000548.5(TSC2):c.751G>A (p.Glu251Lys)
|
rs1114167465
|
|
NM_000548.5(TSC2):c.758G>T (p.Cys253Phe)
|
rs766547457
|
|
NM_000548.5(TSC2):c.778A>T (p.Met260Leu)
|
rs2085953921
|
|
NM_000548.5(TSC2):c.781C>G (p.Arg261Gly)
|
rs45517130
|
|
NM_000548.5(TSC2):c.786C>A (p.Asn262Lys)
|
rs1485087555
|
|
NM_000548.5(TSC2):c.793G>T (p.Gly265Cys)
|
|
|
NM_000548.5(TSC2):c.794G>T (p.Gly265Val)
|
rs1188591008
|
|
NM_000548.5(TSC2):c.803T>G (p.Leu268Arg)
|
rs2085959207
|
|
NM_000548.5(TSC2):c.805G>A (p.Gly269Ser)
|
rs1596280654
|
|
NM_000548.5(TSC2):c.808C>T (p.His270Tyr)
|
|
|
NM_000548.5(TSC2):c.811A>G (p.Ser271Gly)
|
rs1555499071
|
|
NM_000548.5(TSC2):c.813C>G (p.Ser271Arg)
|
rs752676212
|
|
NM_000548.5(TSC2):c.814G>T (p.Ala272Ser)
|
rs373818076
|
|
NM_000548.5(TSC2):c.81T>A (p.Asn27Lys)
|
|
|
NM_000548.5(TSC2):c.820T>A (p.Tyr274Asn)
|
rs367642937
|
|
NM_000548.5(TSC2):c.820T>G (p.Tyr274Asp)
|
rs367642937
|
|
NM_000548.5(TSC2):c.823A>G (p.Asn275Asp)
|
|
|
NM_000548.5(TSC2):c.826A>C (p.Met276Leu)
|
|
|
NM_000548.5(TSC2):c.829T>G (p.Cys277Gly)
|
|
|
NM_000548.5(TSC2):c.839T>A (p.Met280Lys)
|
|
|
NM_000548.5(TSC2):c.846C>A (p.Asp282Glu)
|
rs587778734
|
|
NM_000548.5(TSC2):c.847A>G (p.Arg283Gly)
|
rs1596280931
|
|
NM_000548.5(TSC2):c.848+5G>T
|
rs1370989559
|
|
NM_000548.5(TSC2):c.849-3T>C
|
rs45489591
|
|
NM_000548.5(TSC2):c.849A>C (p.Arg283Ser)
|
rs1596288325
|
|
NM_000548.5(TSC2):c.850G>A (p.Ala284Thr)
|
|
|
NM_000548.5(TSC2):c.854A>G (p.Tyr285Cys)
|
|
|
NM_000548.5(TSC2):c.856A>T (p.Met286Leu)
|
|
|
NM_000548.5(TSC2):c.859G>A (p.Glu287Lys)
|
rs397515300
|
|
NM_000548.5(TSC2):c.862G>A (p.Asp288Asn)
|
rs1555499648
|
|
NM_000548.5(TSC2):c.879A>T (p.Arg293Ser)
|
|
|
NM_000548.5(TSC2):c.884C>T (p.Ala295Val)
|
rs1596288578
|
|
NM_000548.5(TSC2):c.886G>T (p.Val296Leu)
|
rs747237113
|
|
NM_000548.5(TSC2):c.891T>G (p.Phe297Leu)
|
|
|
NM_000548.5(TSC2):c.895G>T (p.Val299Leu)
|
|
|
NM_000548.5(TSC2):c.897G>A (p.Val299=)
|
rs1382139812
|
|
NM_000548.5(TSC2):c.89C>G (p.Ser30Cys)
|
rs1425163522
|
|
NM_000548.5(TSC2):c.901A>G (p.Met301Val)
|
rs1356498946
|
|
NM_000548.5(TSC2):c.905C>T (p.Ala302Val)
|
|
|
NM_000548.5(TSC2):c.907C>A (p.Leu303Ile)
|
rs1060500943
|
|
NM_000548.5(TSC2):c.907C>G (p.Leu303Val)
|
rs1060500943
|
|
NM_000548.5(TSC2):c.907C>T (p.Leu303Phe)
|
rs1060500943
|
|
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)
|
rs397515108
|
|
NM_000548.5(TSC2):c.919C>T (p.His307Tyr)
|
rs1279645051
|
|
NM_000548.5(TSC2):c.923G>T (p.Arg308Leu)
|
|
|
NM_000548.5(TSC2):c.925C>T (p.Leu309Phe)
|
rs1258567486
|
|
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys)
|
rs878854122
|
|
NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe)
|
rs878854122
|
|
NM_000548.5(TSC2):c.931T>A (p.Ser311Thr)
|
rs775590764
|
|
NM_000548.5(TSC2):c.934C>G (p.Leu312Val)
|
rs755368431
|
|
NM_000548.5(TSC2):c.934C>T (p.Leu312Phe)
|
rs755368431
|
|
NM_000548.5(TSC2):c.943T>G (p.Ser315Ala)
|
|
|
NM_000548.5(TSC2):c.944C>G (p.Ser315Trp)
|
|
|
NM_000548.5(TSC2):c.947C>T (p.Pro316Leu)
|
rs751490043
|
|
NM_000548.5(TSC2):c.94G>A (p.Glu32Lys)
|
rs2084679567
|
|
NM_000548.5(TSC2):c.94G>C (p.Glu32Gln)
|
|
|
NM_000548.5(TSC2):c.950C>T (p.Thr317Ile)
|
rs1596289105
|
|
NM_000548.5(TSC2):c.955G>A (p.Val319Met)
|
rs1432086775
|
|
NM_000548.5(TSC2):c.960G>T (p.Leu320Phe)
|
rs1131825
|
|
NM_000548.5(TSC2):c.962C>T (p.Pro321Leu)
|
rs2151109772
|
|
NM_000548.5(TSC2):c.968T>G (p.Phe323Cys)
|
|
|
NM_000548.5(TSC2):c.975+5G>A
|
|
|
NM_000548.5(TSC2):c.98G>A (p.Gly33Asp)
|
rs1352220583
|
|
NM_000548.5(TSC2):c.993C>G (p.Asn331Lys)
|
|
|
NM_000548.5(TSC2):c.994G>C (p.Glu332Gln)
|
rs911600402
|
|
NM_000548.5(TSC2):c.995A>G (p.Glu332Gly)
|
|
|
NM_000548.5(TSC2):c.995A>T (p.Glu332Val)
|
|
|
NM_000548.5(TSC2):c.996G>C (p.Glu332Asp)
|
rs757788971
|
|
NM_000548.5(TSC2):c.996G>T (p.Glu332Asp)
|
|
|
NM_000548.5(TSC2):c.997G>A (p.Val333Met)
|
rs1336741146
|
|
NM_000548.5(TSC2):c.998T>C (p.Val333Ala)
|
rs781423177
|
|