NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=)
|
rs45517384
|
0.01015
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
NM_000548.5(TSC2):c.336+32C>T
|
rs45517103
|
0.00456
|
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=)
|
rs35118875
|
0.00415
|
NM_000548.5(TSC2):c.948G>A (p.Pro316=)
|
rs45517141
|
0.00379
|
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=)
|
rs45517354
|
0.00377
|
NM_000548.5(TSC2):c.848+7G>A
|
rs45442896
|
0.00376
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
NM_000548.5(TSC2):c.2545+26G>A
|
rs45517242
|
0.00356
|
NM_000548.5(TSC2):c.1361+18G>C
|
rs140223009
|
0.00350
|
NM_000548.5(TSC2):c.729C>G (p.Leu243=)
|
rs45473698
|
0.00332
|
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)
|
rs45474795
|
0.00306
|
NM_000548.5(TSC2):c.228C>T (p.His76=)
|
rs45517097
|
0.00297
|
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=)
|
rs35986575
|
0.00288
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00287
|
NM_000548.5(TSC2):c.4006-8C>T
|
rs45517325
|
0.00275
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)
|
rs1800729
|
0.00231
|
NM_000548.5(TSC2):c.*35G>A
|
rs200025534
|
0.00226
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=)
|
rs115200071
|
0.00209
|
NM_000548.5(TSC2):c.*71C>T
|
rs45498900
|
0.00205
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_000548.5(TSC2):c.3815-15G>A
|
rs45480591
|
0.00149
|
NM_000548.5(TSC2):c.1276C>T (p.Leu426=)
|
rs45478593
|
0.00142
|
NM_000548.5(TSC2):c.2565C>T (p.His855=)
|
rs143537386
|
0.00138
|
NM_000548.5(TSC2):c.5260-15C>T
|
rs45517416
|
0.00138
|
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr)
|
rs45490792
|
0.00116
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=)
|
rs45487992
|
0.00109
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_000548.5(TSC2):c.600-180C>A
|
rs537423263
|
0.00093
|
NM_000548.5(TSC2):c.2784C>T (p.Pro928=)
|
rs45517267
|
0.00086
|
NM_000548.5(TSC2):c.1860G>A (p.Leu620=)
|
rs45492397
|
0.00084
|
NM_000548.5(TSC2):c.2838-4A>G
|
rs45517272
|
0.00084
|
NM_000548.5(TSC2):c.2979G>A (p.Thr993=)
|
rs45517277
|
0.00083
|
NM_000548.5(TSC2):c.856A>G (p.Met286Val)
|
rs1800748
|
0.00083
|
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
NM_000548.5(TSC2):c.255C>T (p.Val85=)
|
rs45517098
|
0.00077
|
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)
|
rs35282988
|
0.00077
|
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)
|
rs147196739
|
0.00076
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)
|
rs45517203
|
0.00071
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val)
|
rs45517171
|
0.00067
|
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr)
|
rs200494044
|
0.00061
|
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)
|
rs45482691
|
0.00057
|
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met)
|
rs139779505
|
0.00054
|
NM_000548.5(TSC2):c.3131+34C>T
|
rs45487103
|
0.00052
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)
|
rs150195368
|
0.00050
|
NM_000548.5(TSC2):c.1821G>A (p.Ala607=)
|
rs149543046
|
0.00050
|
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu)
|
rs137854214
|
0.00048
|
NM_000548.5(TSC2):c.1839+6G>A
|
rs45517204
|
0.00046
|
NM_000548.5(TSC2):c.2073C>T (p.Arg691=)
|
rs45512398
|
0.00043
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
NM_000548.5(TSC2):c.3883+37C>T
|
rs45517315
|
0.00038
|
NM_000548.5(TSC2):c.1143G>A (p.Arg381=)
|
rs45517155
|
0.00036
|
NM_000548.5(TSC2):c.1512C>G (p.Val504=)
|
rs146359990
|
0.00035
|
NM_000548.5(TSC2):c.2743-3C>A
|
rs45517264
|
0.00033
|
NM_000548.5(TSC2):c.4272C>T (p.Asp1424=)
|
rs371541319
|
0.00032
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val)
|
rs202187148
|
0.00030
|
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
NM_000548.5(TSC2):c.291C>G (p.Ala97=)
|
rs137933794
|
0.00028
|
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=)
|
rs45517307
|
0.00027
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)
|
rs45475501
|
0.00026
|
NM_000548.5(TSC2):c.4095G>A (p.Ser1365=)
|
rs139630605
|
0.00025
|
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val)
|
rs202068995
|
0.00025
|
NM_000548.5(TSC2):c.1443+4C>T
|
rs45517172
|
0.00024
|
NM_000548.5(TSC2):c.4929C>T (p.Asn1643=)
|
rs45517381
|
0.00023
|
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr)
|
rs397515223
|
0.00022
|
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val)
|
rs45466493
|
0.00022
|
NM_000548.5(TSC2):c.2427C>T (p.Ser809=)
|
rs182849638
|
0.00021
|
NM_000548.5(TSC2):c.1377C>T (p.Gly459=)
|
rs45517170
|
0.00019
|
NM_000548.5(TSC2):c.251C>T (p.Ala84Val)
|
rs35660529
|
0.00019
|
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=)
|
rs45487691
|
0.00019
|
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)
|
rs45505895
|
0.00018
|
NM_000548.5(TSC2):c.4044C>T (p.His1348=)
|
rs137854084
|
0.00018
|
NM_000548.5(TSC2):c.4493+18G>A
|
rs45454201
|
0.00017
|
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys)
|
rs370404391
|
0.00017
|
NM_000548.5(TSC2):c.2622G>A (p.Pro874=)
|
rs141486629
|
0.00016
|
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp)
|
rs45517295
|
0.00016
|
NM_000548.5(TSC2):c.3888C>T (p.Ser1296=)
|
rs141252704
|
0.00016
|
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=)
|
rs182327684
|
0.00016
|
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)
|
rs45509392
|
0.00015
|
NM_000548.5(TSC2):c.300G>A (p.Ala100=)
|
rs45517100
|
0.00015
|
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=)
|
rs147578602
|
0.00015
|
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=)
|
rs200346578
|
0.00014
|
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)
|
rs45448801
|
0.00014
|
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys)
|
rs145470784
|
0.00013
|
NM_000548.5(TSC2):c.2451C>T (p.Asp817=)
|
rs201442542
|
0.00012
|
NM_000548.5(TSC2):c.2546-5C>T
|
rs45517247
|
0.00012
|
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu)
|
rs377123510
|
0.00012
|
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe)
|
rs45478595
|
0.00011
|
NM_000548.5(TSC2):c.4226G>A (p.Arg1409Gln)
|
rs768684515
|
0.00011
|
NM_000548.5(TSC2):c.5069-21G>A
|
rs45517390
|
0.00011
|
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr)
|
rs376573446
|
0.00010
|
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser)
|
rs144062721
|
0.00010
|
NM_000548.5(TSC2):c.4047G>A (p.Ala1349=)
|
rs45468491
|
0.00009
|
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=)
|
rs137854000
|
0.00009
|
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys)
|
rs45517126
|
0.00008
|
NM_000548.5(TSC2):c.775-4G>A
|
rs754957491
|
0.00008
|
NM_000548.5(TSC2):c.3681C>A (p.Pro1227=)
|
rs181279399
|
0.00007
|
NM_000548.5(TSC2):c.4558C>T (p.Leu1520=)
|
rs374687688
|
0.00007
|
NM_000548.5(TSC2):c.5016C>T (p.Ile1672=)
|
rs370770569
|
0.00007
|
NM_000548.5(TSC2):c.630G>A (p.Ala210=)
|
rs567756494
|
0.00007
|
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys)
|
rs760489473
|
0.00006
|
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=)
|
rs557648435
|
0.00006
|
NM_000548.5(TSC2):c.363C>T (p.Ala121=)
|
rs45517106
|
0.00006
|
NM_000548.5(TSC2):c.3883+6G>A
|
rs757751865
|
0.00006
|
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=)
|
rs145033857
|
0.00006
|
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met)
|
rs772687631
|
0.00006
|
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)
|
rs45517392
|
0.00006
|
NM_000548.5(TSC2):c.708C>T (p.Leu236=)
|
rs756121647
|
0.00006
|
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr)
|
rs759837836
|
0.00005
|
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)
|
rs45517333
|
0.00005
|
NM_000548.5(TSC2):c.4610T>C (p.Ile1537Thr)
|
rs760056622
|
0.00005
|
NM_000548.5(TSC2):c.669C>T (p.Asp223=)
|
rs35501344
|
0.00005
|
NM_000548.5(TSC2):c.1095C>T (p.Ile365=)
|
rs757135168
|
0.00004
|
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser)
|
rs137854168
|
0.00004
|
NM_000548.5(TSC2):c.2049C>T (p.Ser683=)
|
rs569518378
|
0.00004
|
NM_000548.5(TSC2):c.2539C>T (p.Leu847=)
|
rs377300009
|
0.00004
|
NM_000548.5(TSC2):c.2859C>T (p.Pro953=)
|
rs397514968
|
0.00004
|
NM_000548.5(TSC2):c.2887G>A (p.Val963Met)
|
rs45517275
|
0.00004
|
NM_000548.5(TSC2):c.3611-10G>A
|
rs372045362
|
0.00004
|
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile)
|
rs201135184
|
0.00004
|
NM_000548.5(TSC2):c.4299G>A (p.Ser1433=)
|
rs749358180
|
0.00004
|
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=)
|
rs758374702
|
0.00004
|
NM_000548.5(TSC2):c.465C>T (p.Tyr155=)
|
rs45444196
|
0.00004
|
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu)
|
rs749326176
|
0.00004
|
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser)
|
rs761181064
|
0.00004
|
NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile)
|
rs778395191
|
0.00004
|
NM_000548.5(TSC2):c.759C>T (p.Cys253=)
|
rs45517125
|
0.00004
|
NM_000548.5(TSC2):c.975+8G>A
|
rs137853984
|
0.00004
|
NM_000548.5(TSC2):c.1317C>T (p.Asp439=)
|
rs777457815
|
0.00003
|
NM_000548.5(TSC2):c.1332C>T (p.Asn444=)
|
rs535984356
|
0.00003
|
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)
|
rs766451267
|
0.00003
|
NM_000548.5(TSC2):c.2034C>T (p.Ala678=)
|
rs781740263
|
0.00003
|
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro)
|
rs45517215
|
0.00003
|
NM_000548.5(TSC2):c.2220+11C>T
|
rs372555496
|
0.00003
|
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser)
|
rs562945619
|
0.00003
|
NM_000548.5(TSC2):c.297C>T (p.His99=)
|
rs752498350
|
0.00003
|
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)
|
rs375824753
|
0.00003
|
NM_000548.5(TSC2):c.336+14C>T
|
rs570065416
|
0.00003
|
NM_000548.5(TSC2):c.3552G>A (p.Ala1184=)
|
rs549427685
|
0.00003
|
NM_000548.5(TSC2):c.3600G>A (p.Arg1200=)
|
rs1410559096
|
0.00003
|
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu)
|
rs45517341
|
0.00003
|
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=)
|
rs397515103
|
0.00003
|
NM_000548.5(TSC2):c.4849+4C>T
|
rs370426490
|
0.00003
|
NM_000548.5(TSC2):c.5260-1G>C
|
rs1057518103
|
0.00003
|
NM_000548.5(TSC2):c.583A>G (p.Ile195Val)
|
rs148325559
|
0.00003
|
NM_000548.5(TSC2):c.673G>A (p.Val225Met)
|
rs142919353
|
0.00003
|
NM_000548.5(TSC2):c.711G>A (p.Pro237=)
|
rs189380607
|
0.00003
|
NM_000548.5(TSC2):c.775-5C>T
|
rs181827303
|
0.00003
|
NM_000548.5(TSC2):c.864C>T (p.Asp288=)
|
rs780887572
|
0.00003
|
NM_000548.5(TSC2):c.1119+6G>C
|
rs397515305
|
0.00002
|
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys)
|
rs767252128
|
0.00002
|
NM_000548.5(TSC2):c.2412C>T (p.Cys804=)
|
rs763123951
|
0.00002
|
NM_000548.5(TSC2):c.2916C>A (p.Ala972=)
|
rs751474097
|
0.00002
|
NM_000548.5(TSC2):c.3039T>C (p.Asp1013=)
|
rs149098424
|
0.00002
|
NM_000548.5(TSC2):c.3117G>A (p.Thr1039=)
|
rs747104674
|
0.00002
|
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=)
|
rs749633483
|
0.00002
|
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=)
|
rs201599540
|
0.00002
|
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val)
|
rs749367382
|
0.00002
|
NM_000548.5(TSC2):c.3957C>T (p.Asp1319=)
|
rs757244510
|
0.00002
|
NM_000548.5(TSC2):c.4057G>A (p.Val1353Ile)
|
rs373982157
|
0.00002
|
NM_000548.5(TSC2):c.4599C>T (p.Leu1533=)
|
rs768431568
|
0.00002
|
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val)
|
rs374066182
|
0.00002
|
NM_000548.5(TSC2):c.5154C>T (p.His1718=)
|
rs370338085
|
0.00002
|
NM_000548.5(TSC2):c.1380C>T (p.Ala460=)
|
rs1060504113
|
0.00001
|
NM_000548.5(TSC2):c.1398G>A (p.Leu466=)
|
rs200702857
|
0.00001
|
NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln)
|
rs376285784
|
0.00001
|
NM_000548.5(TSC2):c.1584G>A (p.Leu528=)
|
rs1478821497
|
0.00001
|
NM_000548.5(TSC2):c.1596G>A (p.Glu532=)
|
rs756466484
|
0.00001
|
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=)
|
rs45509094
|
0.00001
|
NM_000548.5(TSC2):c.2047T>C (p.Ser683Pro)
|
rs878854080
|
0.00001
|
NM_000548.5(TSC2):c.2331T>C (p.His777=)
|
rs139963953
|
0.00001
|
NM_000548.5(TSC2):c.2484G>A (p.Val828=)
|
rs780395534
|
0.00001
|
NM_000548.5(TSC2):c.2586G>A (p.Ala862=)
|
rs752865665
|
0.00001
|
NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys)
|
rs796053512
|
0.00001
|
NM_000548.5(TSC2):c.2823C>T (p.Asn941=)
|
rs750806272
|
0.00001
|
NM_000548.5(TSC2):c.2886C>T (p.Pro962=)
|
rs140202176
|
0.00001
|
NM_000548.5(TSC2):c.3165C>T (p.Gly1055=)
|
rs1215210783
|
0.00001
|
NM_000548.5(TSC2):c.3297G>C (p.Gly1099=)
|
rs138459325
|
0.00001
|
NM_000548.5(TSC2):c.3395C>T (p.Ser1132Leu)
|
rs137854074
|
0.00001
|
NM_000548.5(TSC2):c.3397+7C>T
|
rs767531844
|
0.00001
|
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu)
|
rs751708490
|
0.00001
|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)
|
rs45438205
|
0.00001
|
NM_000548.5(TSC2):c.3759G>A (p.Leu1253=)
|
rs878854095
|
0.00001
|
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn)
|
rs375883030
|
0.00001
|
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile)
|
rs767495365
|
0.00001
|
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=)
|
rs1285012780
|
0.00001
|
NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg)
|
rs763497329
|
0.00001
|
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val)
|
rs757579310
|
0.00001
|
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=)
|
rs536527623
|
0.00001
|
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=)
|
rs761248238
|
0.00001
|
NM_000548.5(TSC2):c.4557G>T (p.Leu1519=)
|
rs1260508226
|
0.00001
|
NM_000548.5(TSC2):c.4707C>T (p.Tyr1569=)
|
rs397515277
|
0.00001
|
NM_000548.5(TSC2):c.5069-11A>G
|
rs562381623
|
0.00001
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val)
|
rs45517407
|
0.00001
|
NM_000548.5(TSC2):c.5208C>T (p.Tyr1736=)
|
rs45517410
|
0.00001
|
NM_000548.5(TSC2):c.5296C>T (p.Pro1766Ser)
|
rs779621136
|
0.00001
|
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg)
|
rs45517418
|
0.00001
|
NM_000548.5(TSC2):c.720C>T (p.Ile240=)
|
rs45517123
|
0.00001
|
NM_000548.5(TSC2):c.813C>T (p.Ser271=)
|
rs752676212
|
0.00001
|
NM_000548.5(TSC2):c.837C>T (p.Leu279=)
|
rs746694709
|
0.00001
|
NM_000548.5(TSC2):c.857T>C (p.Met286Thr)
|
rs45517136
|
0.00001
|
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser)
|
rs747310967
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:2098168-2100457)x1
|
|
|
GRCh37/hg19 16p13.3(chr16:2114273-2122984)x1
|
|
|
NM_000548.4(TSC2):c.-141G>C
|
|
|
NM_000548.5(TSC2):c.1057_1059delinsTTT (p.Leu353Phe)
|
|
|
NM_000548.5(TSC2):c.1220_1240del (p.Tyr407_Arg413del)
|
rs137853998
|
|
NM_000548.5(TSC2):c.132dup (p.Leu45fs)
|
rs2150973810
|
|
NM_000548.5(TSC2):c.1361+1G>A
|
rs45517164
|
|
NM_000548.5(TSC2):c.1361+1G>T
|
rs45517164
|
|
NM_000548.5(TSC2):c.1362-4G>A
|
rs397515145
|
|
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys)
|
rs200532154
|
|
NM_000548.5(TSC2):c.1485C>T (p.His495=)
|
rs2151189170
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1589T>C (p.Ile530Thr)
|
rs2151191974
|
|
NM_000548.5(TSC2):c.1610_1617dup (p.Ser540fs)
|
rs2087224465
|
|
NM_000548.5(TSC2):c.1652C>T (p.Ala551Val)
|
rs1465307943
|
|
NM_000548.5(TSC2):c.1758_1759del (p.Val586_Tyr587insTer)
|
rs397515116
|
|
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)
|
rs45469298
|
|
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
|
rs28934872
|
|
NM_000548.5(TSC2):c.1866G>A (p.Arg622=)
|
rs1397060903
|
|
NM_000548.5(TSC2):c.1884C>T (p.Arg628=)
|
rs1225653495
|
|
NM_000548.5(TSC2):c.1926C>T (p.Pro642=)
|
rs778765636
|
|
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile)
|
rs746677177
|
|
NM_000548.5(TSC2):c.1987C>G (p.Leu663Val)
|
rs747516623
|
|
NM_000548.5(TSC2):c.2050G>C (p.Val684Leu)
|
|
|
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn)
|
rs1013995962
|
|
NM_000548.5(TSC2):c.2157T>G (p.Tyr719Ter)
|
rs902456479
|
|
NM_000548.5(TSC2):c.2166C>A (p.Leu722=)
|
|
|
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val)
|
rs764725850
|
|
NM_000548.5(TSC2):c.2174C>T (p.Thr725Ile)
|
rs1567467623
|
|
NM_000548.5(TSC2):c.226C>T (p.His76Tyr)
|
rs574779350
|
|
NM_000548.5(TSC2):c.2271C>T (p.Phe757=)
|
rs1555506918
|
|
NM_000548.5(TSC2):c.2325T>G (p.Ser775=)
|
|
|
NM_000548.5(TSC2):c.2452A>G (p.Ile818Val)
|
rs1596356585
|
|
NM_000548.5(TSC2):c.249G>A (p.Lys83=)
|
rs1202653675
|
|
NM_000548.5(TSC2):c.2532G>A (p.Leu844=)
|
rs2151356150
|
|
NM_000548.5(TSC2):c.2570A>G (p.Tyr857Cys)
|
rs878854084
|
|
NM_000548.5(TSC2):c.2616C>T (p.Ser872=)
|
rs779843919
|
|
NM_000548.5(TSC2):c.2639+1G>A
|
rs45517252
|
|
NM_000548.5(TSC2):c.2649G>A (p.Gln883=)
|
|
|
NM_000548.5(TSC2):c.2680G>C (p.Ala894Pro)
|
rs1379507306
|
|
NM_000548.5(TSC2):c.2695A>G (p.Arg899Gly)
|
rs2089322279
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
NM_000548.5(TSC2):c.2838-10C>T
|
rs1596374422
|
|
NM_000548.5(TSC2):c.2958_2960del (p.Val987del)
|
rs2151416522
|
|
NM_000548.5(TSC2):c.2985C>T (p.Leu995=)
|
rs786203324
|
|
NM_000548.5(TSC2):c.3040A>G (p.Ser1014Gly)
|
rs1163007321
|
|
NM_000548.5(TSC2):c.3102C>T (p.Val1034=)
|
rs562998574
|
|
NM_000548.5(TSC2):c.3134C>T (p.Ser1045Phe)
|
|
|
NM_000548.5(TSC2):c.3144C>T (p.Gly1048=)
|
rs772640324
|
|
NM_000548.5(TSC2):c.3190_3285-15del
|
|
|
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs)
|
rs137854076
|
|
NM_000548.5(TSC2):c.3335_3355dup (p.Leu1112_Gln1118dup)
|
rs2089873322
|
|
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)
|
rs45451497
|
|
NM_000548.5(TSC2):c.345T>G (p.Arg115=)
|
|
|
NM_000548.5(TSC2):c.3512C>T (p.Ala1171Val)
|
|
|
NM_000548.5(TSC2):c.3543G>C (p.Thr1181=)
|
rs139313964
|
|
NM_000548.5(TSC2):c.3608C>T (p.Thr1203Ile)
|
|
|
NM_000548.5(TSC2):c.3610+1G>A
|
rs45517299
|
|
NM_000548.5(TSC2):c.3611-2A>T
|
rs397515169
|
|
NM_000548.5(TSC2):c.3622T>C (p.Trp1208Arg)
|
rs45482795
|
|
NM_000548.5(TSC2):c.3738C>T (p.Asp1246=)
|
|
|
NM_000548.5(TSC2):c.3782C>A (p.Ala1261Asp)
|
rs45517310
|
|
NM_000548.5(TSC2):c.3863A>C (p.His1288Pro)
|
rs1567514069
|
|
NM_000548.5(TSC2):c.3867_3869del (p.Arg1289del)
|
rs1567514084
|
|
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val)
|
rs371239156
|
|
NM_000548.5(TSC2):c.3950dup (p.Leu1317fs)
|
rs2151512451
|
|
NM_000548.5(TSC2):c.3996C>T (p.Ala1332=)
|
rs1421997373
|
|
NM_000548.5(TSC2):c.4004G>T (p.Arg1335Met)
|
|
|
NM_000548.5(TSC2):c.4005+1G>T
|
rs45517324
|
|
NM_000548.5(TSC2):c.4005+4A>T
|
|
|
NM_000548.5(TSC2):c.4006-6T>C
|
rs1060500953
|
|
NM_000548.5(TSC2):c.4027GAG[1] (p.Glu1344del)
|
rs878854100
|
|
NM_000548.5(TSC2):c.4107G>A (p.Arg1369=)
|
rs201688447
|
|
NM_000548.5(TSC2):c.4155C>T (p.Ser1385=)
|
rs1057521540
|
|
NM_000548.5(TSC2):c.4161C>A (p.Ser1387=)
|
|
|
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn)
|
rs147719291
|
|
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr)
|
rs147719291
|
|
NM_000548.5(TSC2):c.4225C>G (p.Arg1409Gly)
|
rs45517333
|
|
NM_000548.5(TSC2):c.4267C>T (p.Leu1423=)
|
rs1484475537
|
|
NM_000548.5(TSC2):c.4365C>T (p.Gly1455=)
|
rs2090527409
|
|
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His)
|
rs45517343
|
|
NM_000548.5(TSC2):c.4485C>G (p.Ile1495Met)
|
rs1030218603
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.4603G>C (p.Asp1535His)
|
rs45517353
|
|
NM_000548.5(TSC2):c.4647T>C (p.Tyr1549=)
|
rs397515028
|
|
NM_000548.5(TSC2):c.4664G>A (p.Ser1555Asn)
|
rs1354678802
|
|
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4674G>A (p.Glu1558=)
|
rs2151569595
|
|
NM_000548.5(TSC2):c.481+5G>T
|
rs137854135
|
|
NM_000548.5(TSC2):c.4844T>G (p.Met1615Arg)
|
rs2090790157
|
|
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter)
|
rs45455296
|
|
NM_000548.5(TSC2):c.4882A>G (p.Lys1628Glu)
|
|
|
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del)
|
rs137854261
|
|
NM_000548.5(TSC2):c.4924_4936del (p.Gly1642fs)
|
rs2151587004
|
|
NM_000548.5(TSC2):c.4989+134G>A
|
|
|
NM_000548.5(TSC2):c.4990-5G>T
|
rs753000765
|
|
NM_000548.5(TSC2):c.5003_5004del (p.Phe1668fs)
|
rs2151611619
|
|
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter)
|
rs45517388
|
|
NM_000548.5(TSC2):c.5068+27_5069-47del
|
|
|
NM_000548.5(TSC2):c.5075_5078del (p.Glu1692fs)
|
rs137854037
|
|
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
|
rs45514196
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)
|
rs45517398
|
|
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)
|
rs45507199
|
|
NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro)
|
rs45517413
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5259+4G>A
|
rs2091153561
|
|
NM_000548.5(TSC2):c.5260-39G>A
|
|
|
NM_000548.5(TSC2):c.5330C>A (p.Pro1777His)
|
rs1555441353
|
|
NM_000548.5(TSC2):c.5367G>A (p.Glu1789=)
|
rs966695764
|
|
NM_000548.5(TSC2):c.5392T>G (p.Ser1798Ala)
|
|
|
NM_000548.5(TSC2):c.661G>C (p.Val221Leu)
|
|
|
NM_000548.5(TSC2):c.717C>G (p.Phe239Leu)
|
rs1567408727
|
|
NM_000548.5(TSC2):c.759C>A (p.Cys253Ter)
|
rs45517125
|
|
NM_000548.5(TSC2):c.775-2del
|
rs2085953535
|
|
NM_000548.5(TSC2):c.781C>G (p.Arg261Gly)
|
rs45517130
|
|
NM_000548.5(TSC2):c.826_827del (p.Met276fs)
|
rs137853977
|
|
NM_000548.5(TSC2):c.839T>C (p.Met280Thr)
|
|
|
NM_000548.5(TSC2):c.931T>C (p.Ser311Pro)
|
|
|
NM_000548.5(TSC2):c.994G>C (p.Glu332Gln)
|
rs911600402
|
|