NM_000548.5(TSC2):c.1717-55T>C
|
rs7187438
|
0.43502
|
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=)
|
rs1748
|
0.35806
|
NM_000548.5(TSC2):c.5161-10A>C
|
rs1800718
|
0.30182
|
NM_000548.5(TSC2):c.2546-12C>T
|
rs13331451
|
0.21707
|
NM_000368.5(TSC1):c.2392-35T>C
|
rs11243931
|
0.19451
|
NM_000548.5(TSC2):c.5260-49C>T
|
rs13332221
|
0.18552
|
NM_000368.5(TSC1):c.1439-37C>T
|
rs10901220
|
0.15700
|
NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
|
rs7862221
|
0.15655
|
NM_000368.5(TSC1):c.1142-33A>G
|
rs6597586
|
0.15388
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
NM_000548.5(TSC2):c.482-3C>T
|
rs1800720
|
0.12927
|
NM_000548.5(TSC2):c.2221-28A>G
|
rs7196184
|
0.11019
|
NM_000368.5(TSC1):c.1334-55C>G
|
rs7872606
|
0.09429
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08157
|
NM_000548.5(TSC2):c.2580T>C (p.Phe860=)
|
rs13337626
|
0.07871
|
NM_000548.5(TSC2):c.1600-39C>T
|
rs45477195
|
0.07469
|
NM_000548.5(TSC2):c.4849+97del
|
rs142421783
|
0.05406
|
NM_000368.5(TSC1):c.2502+51A>G
|
rs75802666
|
0.05189
|
NM_000548.5(TSC2):c.3884-56C>G
|
rs1800724
|
0.05069
|
NM_000548.5(TSC2):c.1578C>T (p.Ser526=)
|
rs34012042
|
0.04830
|
NM_000548.5(TSC2):c.976-63G>A
|
rs12927333
|
0.04770
|
NM_000548.5(TSC2):c.3610+42dup
|
rs397515119
|
0.03758
|
NM_000548.5(TSC2):c.*26G>A
|
rs13332015
|
0.03592
|
NM_000368.5(TSC1):c.*913C>T
|
rs117425923
|
0.03508
|
NM_000548.5(TSC2):c.3883+78G>A
|
rs1800705
|
0.02672
|
NM_000368.5(TSC1):c.2976-43G>C
|
rs7853849
|
0.02474
|
NM_000368.5(TSC1):c.*1487C>T
|
rs79277527
|
0.02462
|
NM_000368.5(TSC1):c.*107T>C
|
rs116917669
|
0.02353
|
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=)
|
rs35534817
|
0.02105
|
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)
|
rs11551373
|
0.02063
|
NC_000009.12:g.132891337C>T
|
rs79220715
|
0.01804
|
NM_000548.5(TSC2):c.*127T>C
|
rs34379884
|
0.01771
|
NM_000368.5(TSC1):c.*1468C>T
|
rs72759433
|
0.01681
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_000548.5(TSC2):c.3883+8C>G
|
rs45517316
|
0.01297
|
NM_000368.5(TSC1):c.-129A>T
|
rs116951280
|
0.01206
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_000548.5(TSC2):c.4849+76G>A
|
rs144647393
|
0.01144
|
NM_000548.5(TSC2):c.2546-31G>A
|
rs145738496
|
0.00979
|
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=)
|
rs45517384
|
0.00977
|
NM_000548.5(TSC2):c.4569+44C>T
|
rs142227748
|
0.00905
|
NM_000548.5(TSC2):c.2097+43A>G
|
rs186681035
|
0.00890
|
NM_000548.5(TSC2):c.4990-7C>T
|
rs45457095
|
0.00888
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00888
|
NM_000548.5(TSC2):c.1110G>A (p.Gln370=)
|
rs1800742
|
0.00810
|
NM_000548.5(TSC2):c.600-84C>T
|
rs35364892
|
0.00785
|
NM_000368.5(TSC1):c.2976-54G>A
|
rs118203740
|
0.00757
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00731
|
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu)
|
rs45517320
|
0.00705
|
NM_000548.5(TSC2):c.1543C>T (p.Leu515=)
|
rs35896166
|
0.00702
|
NM_000368.5(TSC1):c.210+33G>A
|
rs118203350
|
0.00695
|
NM_000368.5(TSC1):c.2626-3C>T
|
rs1060503192
|
0.00608
|
NM_000548.5(TSC2):c.2743-40A>G
|
rs45517265
|
0.00586
|
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val)
|
rs34870424
|
0.00558
|
NM_000548.5(TSC2):c.2545+31C>T
|
rs45517243
|
0.00548
|
NM_000548.5(TSC2):c.1258-32dup
|
rs397515240
|
0.00527
|
NM_000548.5(TSC2):c.648+117C>G
|
rs45460197
|
0.00482
|
NM_000548.5(TSC2):c.2239C>T (p.Leu747=)
|
rs45517221
|
0.00480
|
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp)
|
rs150397923
|
0.00468
|
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=)
|
rs116747861
|
0.00461
|
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.2220+25G>C
|
rs149860839
|
0.00414
|
NM_000548.5(TSC2):c.1362-32C>G
|
rs45517166
|
0.00391
|
NM_000548.5(TSC2):c.3132-30A>G
|
rs45517283
|
0.00386
|
NM_000548.5(TSC2):c.2640-26G>T
|
rs45483797
|
0.00380
|
NM_000548.5(TSC2):c.2545+26G>A
|
rs45517242
|
0.00356
|
NM_000548.5(TSC2):c.1443+18C>T
|
rs375947241
|
0.00350
|
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=)
|
rs45517354
|
0.00349
|
NM_000548.5(TSC2):c.848+7G>A
|
rs45442896
|
0.00348
|
NM_000548.5(TSC2):c.948G>A (p.Pro316=)
|
rs45517141
|
0.00348
|
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)
|
rs118203518
|
0.00346
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00344
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_000548.5(TSC2):c.-65G>C
|
rs563544506
|
0.00342
|
NM_000548.5(TSC2):c.729C>G (p.Leu243=)
|
rs45473698
|
0.00332
|
NM_000548.5(TSC2):c.228C>T (p.His76=)
|
rs45517097
|
0.00297
|
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)
|
rs45474795
|
0.00291
|
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=)
|
rs35986575
|
0.00288
|
NM_000548.5(TSC2):c.4006-8C>T
|
rs45517325
|
0.00275
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00272
|
NM_000368.5(TSC1):c.106+15A>G
|
rs80258442
|
0.00266
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00259
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00242
|
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)
|
rs1800729
|
0.00231
|
NM_000368.5(TSC1):c.1263+88A>G
|
rs118203507
|
0.00228
|
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_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_000368.5(TSC1):c.1726T>C (p.Leu576=)
|
rs118203567
|
0.00165
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00152
|
NM_000548.5(TSC2):c.3815-15G>A
|
rs45480591
|
0.00149
|
NM_000368.5(TSC1):c.1701G>A (p.Ala567=)
|
rs35478675
|
0.00147
|
NM_000548.5(TSC2):c.1276C>T (p.Leu426=)
|
rs45478593
|
0.00142
|
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)
|
rs118203742
|
0.00139
|
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.4195G>A (p.Gly1399Arg)
|
rs45466399
|
0.00119
|
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.1946T>C (p.Met649Thr)
|
rs45490792
|
0.00108
|
NM_000368.5(TSC1):c.-7C>T
|
rs62621221
|
0.00103
|
NM_000368.5(TSC1):c.876C>T (p.Val292=)
|
rs116756594
|
0.00096
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00094
|
NM_000548.5(TSC2):c.5161-9C>T
|
rs45515893
|
0.00094
|
NM_000548.5(TSC2):c.482-59G>A
|
rs200833855
|
0.00090
|
NM_000548.5(TSC2):c.262C>T (p.Leu88=)
|
rs45485999
|
0.00086
|
NM_000548.5(TSC2):c.2838-4A>G
|
rs45517272
|
0.00085
|
NM_000548.5(TSC2):c.1860G>A (p.Leu620=)
|
rs45492397
|
0.00084
|
NM_000548.5(TSC2):c.-72T>A
|
rs543752709
|
0.00083
|
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.255C>T (p.Val85=)
|
rs45517098
|
0.00082
|
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
NM_000368.5(TSC1):c.552G>C (p.Val184=)
|
rs118203397
|
0.00079
|
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_000368.5(TSC1):c.273G>A (p.Ser91=)
|
rs115097221
|
0.00070
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00070
|
NM_000368.5(TSC1):c.*358C>T
|
rs147729052
|
0.00068
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)
|
rs45517203
|
0.00068
|
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val)
|
rs45517171
|
0.00067
|
NM_000548.5(TSC2):c.2742+13C>T
|
rs45517260
|
0.00065
|
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln)
|
rs118203543
|
0.00064
|
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu)
|
rs148527903
|
0.00063
|
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr)
|
rs200494044
|
0.00061
|
NM_000548.5(TSC2):c.5068+40G>A
|
rs185211341
|
0.00061
|
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)
|
rs45482691
|
0.00057
|
NM_000548.5(TSC2):c.3284+45G>A
|
rs140027616
|
0.00055
|
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys)
|
rs142257684
|
0.00054
|
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met)
|
rs139779505
|
0.00054
|
NM_000548.5(TSC2):c.2356-63A>C
|
rs45517230
|
0.00052
|
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.975+13C>T
|
rs200564575
|
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.2640-13C>T
|
rs201184637
|
0.00050
|
NM_000548.5(TSC2):c.2073C>T (p.Arg691=)
|
rs45512398
|
0.00048
|
NM_000548.5(TSC2):c.2837+80C>T
|
rs137854131
|
0.00048
|
NM_000548.5(TSC2):c.1839+6G>A
|
rs45517204
|
0.00046
|
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu)
|
rs137854214
|
0.00046
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00042
|
NM_000548.5(TSC2):c.3610+9C>T
|
rs45467194
|
0.00042
|
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro)
|
rs377598226
|
0.00041
|
NM_000548.5(TSC2):c.2296G>A (p.Val766Met)
|
rs150672640
|
0.00041
|
NM_000548.5(TSC2):c.4869C>T (p.Thr1623=)
|
rs150239180
|
0.00041
|
NM_000368.5(TSC1):c.1773G>A (p.Pro591=)
|
rs146578402
|
0.00040
|
NM_000548.5(TSC2):c.138+20C>G
|
rs45517092
|
0.00040
|
NM_000368.5(TSC1):c.2505C>T (p.Leu835=)
|
rs112384441
|
0.00039
|
NM_000548.5(TSC2):c.1717-30G>A
|
rs45500703
|
0.00038
|
NM_000548.5(TSC2):c.3883+37C>T
|
rs45517315
|
0.00038
|
NM_000548.5(TSC2):c.482-27C>T
|
rs200473689
|
0.00037
|
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)
|
rs118203504
|
0.00036
|
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr)
|
rs118203357
|
0.00036
|
NM_000548.5(TSC2):c.1143G>A (p.Arg381=)
|
rs45517155
|
0.00036
|
NM_000548.5(TSC2):c.291C>G (p.Ala97=)
|
rs137933794
|
0.00036
|
NM_000548.5(TSC2):c.1444-40G>A
|
rs45460191
|
0.00035
|
NM_000548.5(TSC2):c.681C>T (p.Cys227=)
|
rs45443205
|
0.00034
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)
|
rs200200869
|
0.00033
|
NM_000548.5(TSC2):c.2097+35G>A
|
rs45517211
|
0.00033
|
NM_000548.5(TSC2):c.2743-3C>A
|
rs45517264
|
0.00033
|
NM_000548.5(TSC2):c.1512C>G (p.Val504=)
|
rs146359990
|
0.00032
|
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.849-24C>T
|
rs373618207
|
0.00031
|
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)
|
rs45475501
|
0.00030
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_000368.5(TSC1):c.2626-4T>C
|
rs777386691
|
0.00029
|
NM_000368.5(TSC1):c.346T>G (p.Leu116Val)
|
rs199620268
|
0.00029
|
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val)
|
rs202187148
|
0.00029
|
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=)
|
rs139507276
|
0.00029
|
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)
|
rs45517391
|
0.00029
|
NM_000548.5(TSC2):c.3611-10G>A
|
rs372045362
|
0.00027
|
NM_000548.5(TSC2):c.3747G>A (p.Leu1249=)
|
rs199593904
|
0.00026
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_000548.5(TSC2):c.5068+9G>A
|
rs45445593
|
0.00026
|
NM_000368.5(TSC1):c.1264-12T>C
|
rs118203508
|
0.00025
|
NM_000548.5(TSC2):c.1170G>A (p.Thr390=)
|
rs376144933
|
0.00025
|
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp)
|
rs45517295
|
0.00025
|
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=)
|
rs45517307
|
0.00025
|
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.2451C>T (p.Asp817=)
|
rs201442542
|
0.00024
|
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp)
|
rs118203723
|
0.00023
|
NM_000368.5(TSC1):c.615T>C (p.Ser205=)
|
rs118203414
|
0.00023
|
NM_000548.5(TSC2):c.4663-38_4663-18dup
|
rs137854102
|
0.00023
|
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp)
|
rs118203483
|
0.00022
|
NM_000548.5(TSC2):c.1443+4C>T
|
rs45517172
|
0.00022
|
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_000368.5(TSC1):c.1998-53G>A
|
rs368679682
|
0.00021
|
NM_000548.5(TSC2):c.1119+23G>A
|
rs180840428
|
0.00021
|
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser)
|
rs144165984
|
0.00021
|
NM_000548.5(TSC2):c.2427C>T (p.Ser809=)
|
rs182849638
|
0.00021
|
NM_000548.5(TSC2):c.4006-30_4006-29del
|
rs397515235
|
0.00021
|
NM_000548.5(TSC2):c.2837+11dup
|
rs137854204
|
0.00020
|
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=)
|
rs373968155
|
0.00020
|
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)
|
rs118203532
|
0.00019
|
NM_000548.5(TSC2):c.1377C>T (p.Gly459=)
|
rs45517170
|
0.00019
|
NM_000548.5(TSC2):c.2295C>T (p.Ala765=)
|
rs45509500
|
0.00019
|
NM_000548.5(TSC2):c.251C>T (p.Ala84Val)
|
rs35660529
|
0.00019
|
NM_000548.5(TSC2):c.3892G>A (p.Val1298Met)
|
rs147284943
|
0.00019
|
NM_000548.5(TSC2):c.4662+17G>A
|
rs45443002
|
0.00019
|
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln)
|
rs45506695
|
0.00019
|
NM_000368.5(TSC1):c.*4248C>T
|
rs886063567
|
0.00018
|
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)
|
rs45505895
|
0.00018
|
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=)
|
rs45487691
|
0.00018
|
NM_000548.5(TSC2):c.148A>G (p.Met50Val)
|
rs140618379
|
0.00017
|
NM_000548.5(TSC2):c.3814+56C>T
|
rs45517312
|
0.00017
|
NM_000548.5(TSC2):c.3942C>T (p.Pro1314=)
|
rs759988275
|
0.00017
|
NM_000548.5(TSC2):c.4493+18G>A
|
rs45454201
|
0.00017
|
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=)
|
rs182327684
|
0.00017
|
NM_000368.5(TSC1):c.201A>G (p.Pro67=)
|
rs371555137
|
0.00016
|
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=)
|
rs140352085
|
0.00016
|
NM_000368.5(TSC1):c.663+29A>G
|
rs376472527
|
0.00016
|
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val)
|
rs374936223
|
0.00016
|
NM_000548.5(TSC2):c.2639+42C>T
|
rs201973730
|
0.00016
|
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=)
|
rs368923127
|
0.00016
|
NM_000548.5(TSC2):c.4493+17C>T
|
rs45517345
|
0.00016
|
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys)
|
rs370404391
|
0.00016
|
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)
|
rs45509392
|
0.00015
|
NM_000548.5(TSC2):c.2097+28G>A
|
rs397514882
|
0.00015
|
NM_000548.5(TSC2):c.2356-15T>A
|
rs189674303
|
0.00015
|
NM_000548.5(TSC2):c.300G>A (p.Ala100=)
|
rs45517100
|
0.00015
|
NM_000548.5(TSC2):c.4044C>T (p.His1348=)
|
rs137854084
|
0.00015
|
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=)
|
rs144965811
|
0.00015
|
NM_000548.5(TSC2):c.552C>T (p.Val184=)
|
rs199991910
|
0.00015
|
NM_000548.5(TSC2):c.649-26G>T
|
rs201910214
|
0.00015
|
NM_000368.5(TSC1):c.1333+13C>T
|
rs118203516
|
0.00014
|
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00014
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
NM_000548.5(TSC2):c.1362-10C>T
|
rs45446697
|
0.00014
|
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg)
|
rs137854215
|
0.00014
|
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp)
|
rs373939435
|
0.00014
|
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=)
|
rs200346578
|
0.00014
|
NM_000548.5(TSC2):c.4493+7C>A
|
rs199943270
|
0.00014
|
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys)
|
rs45517409
|
0.00014
|
NM_000368.5(TSC1):c.2209-3T>C
|
rs368309229
|
0.00013
|
NM_000368.5(TSC1):c.249C>T (p.Ala83=)
|
rs145783693
|
0.00013
|
NM_000548.5(TSC2):c.*5G>A
|
rs201342697
|
0.00013
|
NM_000548.5(TSC2):c.1362-70A>C
|
rs45517168
|
0.00013
|
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala)
|
rs45517284
|
0.00013
|
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val)
|
rs45448801
|
0.00013
|
NM_000548.5(TSC2):c.4398G>T (p.Ser1466=)
|
rs376086638
|
0.00013
|
NM_000548.5(TSC2):c.5069-21G>A
|
rs45517390
|
0.00013
|
NM_000548.5(TSC2):c.5200G>A (p.Asp1734Asn)
|
rs751990617
|
0.00013
|
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)
|
rs118203481
|
0.00012
|
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val)
|
rs397514880
|
0.00012
|
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)
|
rs199755731
|
0.00012
|
NM_000368.5(TSC1):c.210+18A>G
|
rs118203349
|
0.00012
|
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr)
|
rs118203721
|
0.00012
|
NM_000368.5(TSC1):c.467A>C (p.Asp156Ala)
|
rs893232039
|
0.00012
|
NM_000368.5(TSC1):c.618T>C (p.His206=)
|
rs118203415
|
0.00012
|
NM_000548.5(TSC2):c.1599+10G>A
|
rs376692777
|
0.00012
|
NM_000548.5(TSC2):c.2546-5C>T
|
rs45517247
|
0.00012
|
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys)
|
rs62642481
|
0.00012
|
NM_000548.5(TSC2):c.4493+16C>G
|
rs45491597
|
0.00012
|
NM_000548.5(TSC2):c.5160+23G>A
|
rs368565375
|
0.00012
|
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln)
|
rs118203692
|
0.00011
|
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys)
|
rs145470784
|
0.00011
|
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys)
|
rs137854421
|
0.00011
|
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe)
|
rs45478595
|
0.00011
|
NM_000548.5(TSC2):c.3832C>T (p.Leu1278=)
|
rs374146919
|
0.00011
|
NM_000548.5(TSC2):c.4226G>A (p.Arg1409Gln)
|
rs768684515
|
0.00011
|
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu)
|
rs45514391
|
0.00011
|
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=)
|
rs367703283
|
0.00011
|
NM_000368.5(TSC1):c.-16G>A
|
rs114970627
|
0.00010
|
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile)
|
rs148931779
|
0.00010
|
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=)
|
rs118203751
|
0.00010
|
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala)
|
rs139753238
|
0.00010
|
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=)
|
rs45517331
|
0.00010
|
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser)
|
rs144062721
|
0.00010
|
NM_000548.5(TSC2):c.4620C>T (p.Tyr1540=)
|
rs45455897
|
0.00010
|
NM_000368.5(TSC1):c.1333+5A>G
|
rs118203515
|
0.00009
|
NM_000368.5(TSC1):c.1438+6G>A
|
rs118203530
|
0.00009
|
NM_000548.5(TSC2):c.1203C>T (p.His401=)
|
rs199665674
|
0.00009
|
NM_000548.5(TSC2):c.1717-28C>T
|
rs45517195
|
0.00009
|
NM_000548.5(TSC2):c.3990G>A (p.Thr1330=)
|
rs369943684
|
0.00009
|
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.5142G>A (p.Gln1714=)
|
rs147147042
|
0.00009
|
NM_000368.5(TSC1):c.1567G>C (p.Ala523Pro)
|
rs118203548
|
0.00008
|
NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu)
|
rs45517188
|
0.00008
|
NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys)
|
rs397514938
|
0.00008
|
NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met)
|
rs776738338
|
0.00008
|
NM_000548.5(TSC2):c.4662+18G>A
|
rs45517357
|
0.00008
|
NM_000548.5(TSC2):c.4849+48C>T
|
rs376861903
|
0.00008
|
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys)
|
rs45517126
|
0.00008
|
NM_000368.5(TSC1):c.1051A>G (p.Met351Val)
|
rs781312535
|
0.00007
|
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=)
|
rs373465241
|
0.00007
|
NM_000368.5(TSC1):c.1302A>G (p.Arg434=)
|
rs907840461
|
0.00007
|
NM_000368.5(TSC1):c.2209-9C>G
|
rs118203660
|
0.00007
|
NM_000368.5(TSC1):c.2626-3_2626-2insT
|
rs760737807
|
0.00007
|
NM_000548.5(TSC2):c.*7G>A
|
rs765016970
|
0.00007
|
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg)
|
rs367963898
|
0.00007
|
NM_000548.5(TSC2):c.1642A>C (p.Arg548=)
|
rs565375272
|
0.00007
|
NM_000548.5(TSC2):c.1656A>G (p.Ala552=)
|
rs373515515
|
0.00007
|
NM_000548.5(TSC2):c.1946+15G>A
|
rs752601710
|
0.00007
|
NM_000548.5(TSC2):c.2743-9C>T
|
rs397515319
|
0.00007
|
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met)
|
rs137854410
|
0.00007
|
NM_000548.5(TSC2):c.3815-27G>A
|
rs137854008
|
0.00007
|
NM_000548.5(TSC2):c.4006-21C>T
|
rs397515012
|
0.00007
|
NM_000548.5(TSC2):c.4008G>A (p.Ser1336=)
|
rs760704956
|
0.00007
|
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)
|
rs137854065
|
0.00007
|
NM_000548.5(TSC2):c.4521C>T (p.Ser1507=)
|
rs140081676
|
0.00007
|
NM_000548.5(TSC2):c.4569+12C>T
|
rs45517350
|
0.00007
|
NM_000548.5(TSC2):c.465C>T (p.Tyr155=)
|
rs45444196
|
0.00007
|
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=)
|
rs137854152
|
0.00007
|
NM_000548.5(TSC2):c.5016C>T (p.Ile1672=)
|
rs370770569
|
0.00007
|
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His)
|
rs45517392
|
0.00007
|
NM_000548.5(TSC2):c.5334A>G (p.Ala1778=)
|
rs371580877
|
0.00007
|
NM_000548.5(TSC2):c.600-15C>T
|
rs369708731
|
0.00007
|
NM_000548.5(TSC2):c.630G>A (p.Ala210=)
|
rs567756494
|
0.00007
|
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)
|
rs139060277
|
0.00007
|
NM_000548.5(TSC2):c.775-4G>A
|
rs754957491
|
0.00007
|
NM_000548.5(TSC2):c.926T>A (p.Leu309His)
|
rs75348431
|
0.00007
|
NM_000548.5(TSC2):c.927C>G (p.Leu309=)
|
rs79786059
|
0.00007
|
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile)
|
rs201452238
|
0.00006
|
NM_000368.5(TSC1):c.1209G>A (p.Ser403=)
|
rs141184479
|
0.00006
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu)
|
rs751247705
|
0.00006
|
NM_000368.5(TSC1):c.513C>T (p.His171=)
|
rs377196837
|
0.00006
|
NM_000548.5(TSC2):c.*77G>A
|
rs886051799
|
0.00006
|
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val)
|
rs45486591
|
0.00006
|
NM_000548.5(TSC2):c.1341G>A (p.Ala447=)
|
rs141609319
|
0.00006
|
NM_000548.5(TSC2):c.1716+28C>A
|
rs371524563
|
0.00006
|
NM_000548.5(TSC2):c.1717-15G>T
|
rs372949465
|
0.00006
|
NM_000548.5(TSC2):c.1731C>T (p.Thr577=)
|
rs144122318
|
0.00006
|
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys)
|
rs760489473
|
0.00006
|
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile)
|
rs146745242
|
0.00006
|
NM_000548.5(TSC2):c.3132-16G>A
|
rs199572528
|
0.00006
|
NM_000548.5(TSC2):c.3327G>A (p.Pro1109=)
|
rs45478393
|
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.3733C>T (p.Arg1245Trp)
|
rs777489742
|
0.00006
|
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=)
|
rs144891432
|
0.00006
|
NM_000548.5(TSC2):c.399C>T (p.Asn133=)
|
rs746704620
|
0.00006
|
NM_000548.5(TSC2):c.4351C>G (p.Arg1451Gly)
|
rs369553241
|
0.00006
|
NM_000548.5(TSC2):c.4533C>T (p.Gly1511=)
|
rs201126835
|
0.00006
|
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=)
|
rs145033857
|
0.00006
|
NM_000548.5(TSC2):c.4794C>T (p.Asp1598=)
|
rs548102930
|
0.00006
|
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met)
|
rs772687631
|
0.00006
|
NM_000548.5(TSC2):c.5319T>C (p.His1773=)
|
rs536518032
|
0.00006
|
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His)
|
rs137854288
|
0.00006
|
NM_000548.5(TSC2):c.618C>T (p.Cys206=)
|
rs45498496
|
0.00006
|
NM_000548.5(TSC2):c.708C>T (p.Leu236=)
|
rs756121647
|
0.00006
|
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)
|
rs118203492
|
0.00005
|
NM_000368.5(TSC1):c.1110A>T (p.Ser370=)
|
rs371648887
|
0.00005
|
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser)
|
rs374222196
|
0.00005
|
NM_000368.5(TSC1):c.231C>T (p.Asn77=)
|
rs397514809
|
0.00005
|
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln)
|
rs200514807
|
0.00005
|
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)
|
rs753374839
|
0.00005
|
NM_000368.5(TSC1):c.3210G>A (p.Ala1070=)
|
rs201165286
|
0.00005
|
NM_000368.5(TSC1):c.402G>A (p.Leu134=)
|
rs147125501
|
0.00005
|
NM_000368.5(TSC1):c.73G>A (p.Val25Met)
|
rs1230244328
|
0.00005
|
NM_000368.5(TSC1):c.853T>G (p.Phe285Val)
|
rs377076733
|
0.00005
|
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg)
|
rs375144225
|
0.00005
|
NM_000548.5(TSC2):c.*44T>C
|
rs188991734
|
0.00005
|
NM_000548.5(TSC2):c.-34G>A
|
rs559641280
|
0.00005
|
NM_000548.5(TSC2):c.1293G>A (p.Ala431=)
|
rs45517162
|
0.00005
|
NM_000548.5(TSC2):c.1398G>A (p.Leu466=)
|
rs200702857
|
0.00005
|
NM_000548.5(TSC2):c.1717-27G>A
|
rs45517194
|
0.00005
|
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val)
|
rs397515296
|
0.00005
|
NM_000548.5(TSC2):c.1874C>T (p.Ser625Leu)
|
rs368285556
|
0.00005
|
NM_000548.5(TSC2):c.2220+4C>G
|
rs781186613
|
0.00005
|
NM_000548.5(TSC2):c.2546-6C>T
|
rs372088609
|
0.00005
|
NM_000548.5(TSC2):c.2639+10C>T
|
rs137854378
|
0.00005
|
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln)
|
rs397515046
|
0.00005
|
NM_000548.5(TSC2):c.282G>A (p.Pro94=)
|
rs145624233
|
0.00005
|
NM_000548.5(TSC2):c.2967-6C>T
|
rs200746335
|
0.00005
|
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=)
|
rs146734084
|
0.00005
|
NM_000548.5(TSC2):c.3666C>T (p.Asp1222=)
|
rs749870079
|
0.00005
|
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val)
|
rs397515062
|
0.00005
|
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp)
|
rs45517333
|
0.00005
|
NM_000548.5(TSC2):c.4298C>T (p.Ser1433Leu)
|
rs45517335
|
0.00005
|
NM_000548.5(TSC2):c.4849+12C>T
|
rs45517373
|
0.00005
|
NM_000548.5(TSC2):c.4849+13G>A
|
rs780953278
|
0.00005
|
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=)
|
rs142085017
|
0.00005
|
NM_000548.5(TSC2):c.669C>T (p.Asp223=)
|
rs35501344
|
0.00005
|
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp)
|
rs45517130
|
0.00005
|
NM_000548.5(TSC2):c.975+8G>A
|
rs137853984
|
0.00005
|
NM_000368.5(TSC1):c.-11C>T
|
rs570705364
|
0.00004
|
NM_000368.5(TSC1):c.110G>A (p.Arg37His)
|
rs750441497
|
0.00004
|
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg)
|
rs762688935
|
0.00004
|
NM_000368.5(TSC1):c.1332A>G (p.Ser444=)
|
rs773003016
|
0.00004
|
NM_000368.5(TSC1):c.1884A>G (p.Leu628=)
|
rs1038140620
|
0.00004
|
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val)
|
rs118203609
|
0.00004
|
NM_000368.5(TSC1):c.2115G>A (p.Glu705=)
|
rs142662480
|
0.00004
|
NM_000368.5(TSC1):c.2626-3del
|
rs886063622
|
0.00004
|
NM_000368.5(TSC1):c.2814-27A>G
|
rs118203738
|
0.00004
|
NM_000368.5(TSC1):c.2922C>T (p.Leu974=)
|
rs769389702
|
0.00004
|
NM_000368.5(TSC1):c.912T>C (p.Tyr304=)
|
rs118203466
|
0.00004
|
NM_000368.5(TSC1):c.942G>A (p.Thr314=)
|
rs144208203
|
0.00004
|
NM_000548.5(TSC2):c.-82G>T
|
rs1391750751
|
0.00004
|
NM_000548.5(TSC2):c.1131C>T (p.Ser377=)
|
rs201525586
|
0.00004
|
NM_000548.5(TSC2):c.1245G>A (p.Ala415=)
|
rs757325185
|
0.00004
|
NM_000548.5(TSC2):c.1303C>T (p.His435Tyr)
|
rs760896048
|
0.00004
|
NM_000548.5(TSC2):c.1365C>T (p.Ser455=)
|
rs34567401
|
0.00004
|
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser)
|
rs45457694
|
0.00004
|
NM_000548.5(TSC2):c.1730C>T (p.Thr577Ile)
|
rs770895919
|
0.00004
|
NM_000548.5(TSC2):c.1752G>A (p.Thr584=)
|
rs141285742
|
0.00004
|
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val)
|
rs371074761
|
0.00004
|
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln)
|
rs45517206
|
0.00004
|
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu)
|
rs397515288
|
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.2545+10C>T
|
rs45517241
|
0.00004
|
NM_000548.5(TSC2):c.258G>A (p.Ala86=)
|
rs397514912
|
0.00004
|
NM_000548.5(TSC2):c.2742+15G>A
|
rs45517261
|
0.00004
|
NM_000548.5(TSC2):c.2742+6C>T
|
rs377568673
|
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.2926C>T (p.Arg976Trp)
|
rs769527912
|
0.00004
|
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp)
|
rs372321790
|
0.00004
|
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro)
|
rs397515306
|
0.00004
|
NM_000548.5(TSC2):c.3192C>A (p.Asn1064Lys)
|
rs201670791
|
0.00004
|
NM_000548.5(TSC2):c.3225C>T (p.Thr1075=)
|
rs374145104
|
0.00004
|
NM_000548.5(TSC2):c.3584C>T (p.Ala1195Val)
|
rs773951533
|
0.00004
|
NM_000548.5(TSC2):c.3851A>G (p.Gln1284Arg)
|
rs944693159
|
0.00004
|
NM_000548.5(TSC2):c.3870C>T (p.Ser1290=)
|
rs754466663
|
0.00004
|
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile)
|
rs201135184
|
0.00004
|
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg)
|
rs45462593
|
0.00004
|
NM_000548.5(TSC2):c.4299G>A (p.Ser1433=)
|
rs749358180
|
0.00004
|
NM_000548.5(TSC2):c.4392C>T (p.Ser1464=)
|
rs528080018
|
0.00004
|
NM_000548.5(TSC2):c.4852G>A (p.Val1618Ile)
|
rs377129517
|
0.00004
|
NM_000548.5(TSC2):c.4867A>T (p.Thr1623Ser)
|
rs749501410
|
0.00004
|
NM_000548.5(TSC2):c.5010C>T (p.His1670=)
|
rs376306544
|
0.00004
|
NM_000548.5(TSC2):c.5034C>T (p.Tyr1678=)
|
rs45467993
|
0.00004
|
NM_000548.5(TSC2):c.5161-4C>G
|
rs45517406
|
0.00004
|
NM_000548.5(TSC2):c.5234G>A (p.Arg1745His)
|
rs766093661
|
0.00004
|
NM_000548.5(TSC2):c.5307C>T (p.His1769=)
|
rs562220073
|
0.00004
|
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser)
|
rs761181064
|
0.00004
|
NM_000548.5(TSC2):c.5313G>A (p.Pro1771=)
|
rs765607686
|
0.00004
|
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=)
|
rs370820622
|
0.00004
|
NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile)
|
rs778395191
|
0.00004
|
NM_000548.5(TSC2):c.585C>T (p.Ile195=)
|
rs397515309
|
0.00004
|
NM_000548.5(TSC2):c.758G>A (p.Cys253Tyr)
|
rs766547457
|
0.00004
|
NM_000548.5(TSC2):c.759C>T (p.Cys253=)
|
rs45517125
|
0.00004
|
NM_000548.5(TSC2):c.989C>T (p.Pro330Leu)
|
rs140910086
|
0.00004
|
NC_000009.12:g.132944641C>A
|
rs571288003
|
0.00003
|
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln)
|
rs397514808
|
0.00003
|
NM_000368.5(TSC1):c.1113C>T (p.His371=)
|
rs771217333
|
0.00003
|
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe)
|
rs1461609607
|
0.00003
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
0.00003
|
NM_000368.5(TSC1):c.1317G>C (p.Leu439=)
|
rs770692313
|
0.00003
|
NM_000368.5(TSC1):c.1344T>G (p.Pro448=)
|
rs530908428
|
0.00003
|
NM_000368.5(TSC1):c.1439-4T>C
|
rs762473323
|
0.00003
|
NM_000368.5(TSC1):c.1584C>T (p.Gly528=)
|
rs149439187
|
0.00003
|
NM_000368.5(TSC1):c.1635T>C (p.Pro545=)
|
rs372284519
|
0.00003
|
NM_000368.5(TSC1):c.1878G>A (p.Glu626=)
|
rs753424167
|
0.00003
|
NM_000368.5(TSC1):c.1922C>A (p.Pro641His)
|
rs397514863
|
0.00003
|
NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly)
|
rs939275328
|
0.00003
|
NM_000368.5(TSC1):c.1974C>T (p.Asp658=)
|
rs118203608
|
0.00003
|
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln)
|
rs1336228562
|
0.00003
|
NM_000368.5(TSC1):c.2478G>C (p.Leu826=)
|
rs149719514
|
0.00003
|
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser)
|
rs76801599
|
0.00003
|
NM_000368.5(TSC1):c.2700G>A (p.Gln900=)
|
rs560986491
|
0.00003
|
NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg)
|
rs1433723046
|
0.00003
|
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys)
|
rs200398750
|
0.00003
|
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val)
|
rs202121327
|
0.00003
|
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)
|
rs201867031
|
0.00003
|
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr)
|
rs1007335343
|
0.00003
|
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys)
|
rs118203400
|
0.00003
|
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln)
|
rs755859330
|
0.00003
|
NM_000368.5(TSC1):c.738-20A>G
|
rs397514824
|
0.00003
|
NM_000368.5(TSC1):c.840A>G (p.Gln280=)
|
rs1171852730
|
0.00003
|
NM_000368.5(TSC1):c.87T>C (p.Phe29=)
|
rs745384145
|
0.00003
|
NM_000368.5(TSC1):c.932C>G (p.Pro311Arg)
|
rs776158460
|
0.00003
|
NM_000368.5(TSC1):c.941C>T (p.Thr314Met)
|
rs373454700
|
0.00003
|
NM_000548.5(TSC2):c.1029C>A (p.Thr343=)
|
rs45468201
|
0.00003
|
NM_000548.5(TSC2):c.108G>A (p.Thr36=)
|
rs781075483
|
0.00003
|
NM_000548.5(TSC2):c.1095C>T (p.Ile365=)
|
rs757135168
|
0.00003
|
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)
|
rs45517148
|
0.00003
|
NM_000548.5(TSC2):c.1150G>A (p.Val384Ile)
|
rs397514881
|
0.00003
|
NM_000548.5(TSC2):c.1308G>A (p.Pro436=)
|
rs753764275
|
0.00003
|
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.139-15T>G
|
rs563094714
|
0.00003
|
NM_000548.5(TSC2):c.1600-10C>T
|
rs768188836
|
0.00003
|
NM_000548.5(TSC2):c.1600-9T>C
|
rs886043268
|
0.00003
|
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu)
|
rs587778729
|
0.00003
|
NM_000548.5(TSC2):c.1627C>T (p.Pro543Ser)
|
rs1060500944
|
0.00003
|
NM_000548.5(TSC2):c.1751C>T (p.Thr584Met)
|
rs751147419
|
0.00003
|
NM_000548.5(TSC2):c.1753C>T (p.Arg585Cys)
|
rs370324876
|
0.00003
|
NM_000548.5(TSC2):c.1775G>A (p.Ser592Asn)
|
rs374371998
|
0.00003
|
NM_000548.5(TSC2):c.1815A>G (p.Pro605=)
|
rs961687056
|
0.00003
|
NM_000548.5(TSC2):c.1840-11C>G
|
rs754804519
|
0.00003
|
NM_000548.5(TSC2):c.1840-14C>T
|
rs539450042
|
0.00003
|
NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys)
|
rs45437797
|
0.00003
|
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)
|
rs766451267
|
0.00003
|
NM_000548.5(TSC2):c.1987C>T (p.Leu663Phe)
|
rs747516623
|
0.00003
|
NM_000548.5(TSC2):c.2013C>A (p.Gly671=)
|
rs566848799
|
0.00003
|
NM_000548.5(TSC2):c.2019G>A (p.Ala673=)
|
rs772993105
|
0.00003
|
NM_000548.5(TSC2):c.201C>T (p.Val67=)
|
rs45460096
|
0.00003
|
NM_000548.5(TSC2):c.2034C>T (p.Ala678=)
|
rs781740263
|
0.00003
|
NM_000548.5(TSC2):c.2039G>A (p.Arg680Gln)
|
rs756536921
|
0.00003
|
NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu)
|
rs370553131
|
0.00003
|
NM_000548.5(TSC2):c.2097+13G>A
|
rs367915255
|
0.00003
|
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro)
|
rs45517215
|
0.00003
|
NM_000548.5(TSC2):c.2218A>G (p.Met740Val)
|
rs757345150
|
0.00003
|
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser)
|
rs562945619
|
0.00003
|
NM_000548.5(TSC2):c.2437G>A (p.Val813Met)
|
rs375030314
|
0.00003
|
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala)
|
rs781713438
|
0.00003
|
NM_000548.5(TSC2):c.2668C>T (p.His890Tyr)
|
rs145258407
|
0.00003
|
NM_000548.5(TSC2):c.2743-11C>T
|
rs137854426
|
0.00003
|
NM_000548.5(TSC2):c.2760C>A (p.Val920=)
|
rs149490538
|
0.00003
|
NM_000548.5(TSC2):c.2781C>T (p.Thr927=)
|
rs376275903
|
0.00003
|
NM_000548.5(TSC2):c.2838-10C>T
|
rs1596374422
|
0.00003
|
NM_000548.5(TSC2):c.2838-123C>T
|
rs922114187
|
0.00003
|
NM_000548.5(TSC2):c.2873A>G (p.Asn958Ser)
|
rs397515104
|
0.00003
|
NM_000548.5(TSC2):c.2967-13C>T
|
rs536150612
|
0.00003
|
NM_000548.5(TSC2):c.297C>T (p.His99=)
|
rs752498350
|
0.00003
|
NM_000548.5(TSC2):c.3018C>T (p.Asn1006=)
|
rs45471697
|
0.00003
|
NM_000548.5(TSC2):c.3036C>T (p.Asp1012=)
|
rs144997264
|
0.00003
|
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)
|
rs796053492
|
0.00003
|
NM_000548.5(TSC2):c.3159G>A (p.Ala1053=)
|
rs765689518
|
0.00003
|
NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe)
|
rs886051793
|
0.00003
|
NM_000548.5(TSC2):c.3210G>A (p.Thr1070=)
|
rs539927192
|
0.00003
|
NM_000548.5(TSC2):c.3240A>G (p.Leu1080=)
|
rs371514669
|
0.00003
|
NM_000548.5(TSC2):c.3252C>G (p.Asp1084Glu)
|
rs45517286
|
0.00003
|
NM_000548.5(TSC2):c.325G>A (p.Val109Met)
|
rs369932305
|
0.00003
|
NM_000548.5(TSC2):c.3342C>T (p.Ser1114=)
|
rs755871381
|
0.00003
|
NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val)
|
rs397514945
|
0.00003
|
NM_000548.5(TSC2):c.3476G>T (p.Arg1159Leu)
|
rs45473098
|
0.00003
|
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=)
|
rs769562717
|
0.00003
|
NM_000548.5(TSC2):c.3552G>A (p.Ala1184=)
|
rs549427685
|
0.00003
|
NM_000548.5(TSC2):c.3585G>A (p.Ala1195=)
|
rs761232933
|
0.00003
|
NM_000548.5(TSC2):c.3610+25G>C
|
rs45517300
|
0.00003
|
NM_000548.5(TSC2):c.3663G>A (p.Ser1221=)
|
rs137854268
|
0.00003
|
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys)
|
rs137854391
|
0.00003
|
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=)
|
rs749057825
|
0.00003
|
NM_000548.5(TSC2):c.3981C>T (p.Asp1327=)
|
rs876659087
|
0.00003
|
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)
|
rs397515209
|
0.00003
|
NM_000548.5(TSC2):c.4086C>T (p.Val1362=)
|
rs763847509
|
0.00003
|
NM_000548.5(TSC2):c.4167C>T (p.Pro1389=)
|
rs45508504
|
0.00003
|
NM_000548.5(TSC2):c.4194C>T (p.Leu1398=)
|
rs1060504106
|
0.00003
|
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=)
|
rs886051794
|
0.00003
|
NM_000548.5(TSC2):c.4219G>A (p.Val1407Met)
|
rs45517332
|
0.00003
|
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu)
|
rs137854406
|
0.00003
|
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=)
|
rs536527623
|
0.00003
|
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe)
|
rs759004251
|
0.00003
|
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu)
|
rs45517339
|
0.00003
|
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter)
|
rs45517340
|
0.00003
|
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu)
|
rs45517341
|
0.00003
|
NM_000548.5(TSC2):c.4410C>T (p.Arg1470=)
|
rs539032553
|
0.00003
|
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys)
|
rs376946970
|
0.00003
|
NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn)
|
rs45517343
|
0.00003
|
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=)
|
rs758374702
|
0.00003
|
NM_000548.5(TSC2):c.4446C>T (p.Ser1482=)
|
rs780955293
|
0.00003
|
NM_000548.5(TSC2):c.4493+25G>T
|
rs397514890
|
0.00003
|
NM_000548.5(TSC2):c.450G>A (p.Gly150=)
|
rs372000734
|
0.00003
|
NM_000548.5(TSC2):c.454C>G (p.His152Asp)
|
rs397515285
|
0.00003
|
NM_000548.5(TSC2):c.4570-66G>A
|
rs45496499
|
0.00003
|
NM_000548.5(TSC2):c.4602C>T (p.Leu1534=)
|
rs368534883
|
0.00003
|
NM_000548.5(TSC2):c.4663-14C>T
|
rs397515174
|
0.00003
|
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=)
|
rs397515103
|
0.00003
|
NM_000548.5(TSC2):c.4849+5G>A
|
rs1198379006
|
0.00003
|
NM_000548.5(TSC2):c.4854C>T (p.Val1618=)
|
rs45517378
|
0.00003
|
NM_000548.5(TSC2):c.493C>T (p.Leu165=)
|
rs758521946
|
0.00003
|
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile)
|
rs45490993
|
0.00003
|
NM_000548.5(TSC2):c.5095G>A (p.Val1699Met)
|
rs370864445
|
0.00003
|
NM_000548.5(TSC2):c.5161-5C>A
|
rs775534948
|
0.00003
|
NM_000548.5(TSC2):c.5181T>C (p.His1727=)
|
rs767191593
|
0.00003
|
NM_000548.5(TSC2):c.5260-1G>C
|
rs1057518103
|
0.00003
|
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys)
|
rs375075952
|
0.00003
|
NM_000548.5(TSC2):c.5362T>G (p.Tyr1788Asp)
|
rs904411432
|
0.00003
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
NM_000548.5(TSC2):c.583A>G (p.Ile195Val)
|
rs148325559
|
0.00003
|
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr)
|
rs45517113
|
0.00003
|
NM_000548.5(TSC2):c.627C>T (p.Thr209=)
|
rs776293094
|
0.00003
|
NM_000548.5(TSC2):c.672C>T (p.Ala224=)
|
rs138897064
|
0.00003
|
NM_000548.5(TSC2):c.673G>A (p.Val225Met)
|
rs142919353
|
0.00003
|
NM_000548.5(TSC2):c.734G>A (p.Arg245His)
|
rs397515011
|
0.00003
|
NM_000548.5(TSC2):c.828G>A (p.Met276Ile)
|
rs1318274503
|
0.00003
|
NM_000548.5(TSC2):c.849-9dup
|
rs764626623
|
0.00003
|
NM_000548.5(TSC2):c.864C>T (p.Asp288=)
|
rs780887572
|
0.00003
|
NM_000548.5(TSC2):c.921C>G (p.His307Gln)
|
rs878854121
|
0.00003
|
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp)
|
rs201144475
|
0.00003
|
NM_000368.5(TSC1):c.*2949A>T
|
rs886063588
|
0.00002
|
NM_000368.5(TSC1):c.1020A>G (p.Glu340=)
|
rs760233114
|
0.00002
|
NM_000368.5(TSC1):c.1030-14T>A
|
rs180810228
|
0.00002
|
NM_000368.5(TSC1):c.106+5G>A
|
rs1554820973
|
0.00002
|
NM_000368.5(TSC1):c.111T>C (p.Arg37=)
|
rs966292723
|
0.00002
|
NM_000368.5(TSC1):c.126A>C (p.Val42=)
|
rs118203335
|
0.00002
|
NM_000368.5(TSC1):c.1273A>G (p.Met425Val)
|
rs753199284
|
0.00002
|
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val)
|
rs1489175329
|
0.00002
|
NM_000368.5(TSC1):c.1439-25C>A
|
rs397514813
|
0.00002
|
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu)
|
rs770570830
|
0.00002
|
NM_000368.5(TSC1):c.167C>T (p.Pro56Leu)
|
rs750512029
|
0.00002
|
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu)
|
rs1269162063
|
0.00002
|
NM_000368.5(TSC1):c.2034C>T (p.His678=)
|
rs201392975
|
0.00002
|
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)
|
rs397514800
|
0.00002
|
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp)
|
rs1264839312
|
0.00002
|
NM_000368.5(TSC1):c.2303G>A (p.Arg768His)
|
rs1033725987
|
0.00002
|
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe)
|
rs868755168
|
0.00002
|
NM_000368.5(TSC1):c.2424G>A (p.Ala808=)
|
rs200651872
|
0.00002
|
NM_000368.5(TSC1):c.2626-2dup
|
rs2131640407
|
0.00002
|
NM_000368.5(TSC1):c.2665G>A (p.Glu889Lys)
|
rs775589156
|
0.00002
|
NM_000368.5(TSC1):c.2976-14C>T
|
rs368652971
|
0.00002
|
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=)
|
rs765753157
|
0.00002
|
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln)
|
rs796053461
|
0.00002
|
NM_000368.5(TSC1):c.3112A>G (p.Ser1038Gly)
|
rs768443391
|
0.00002
|
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr)
|
rs112066743
|
0.00002
|
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=)
|
rs118203746
|
0.00002
|
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=)
|
rs749995749
|
0.00002
|
NM_000368.5(TSC1):c.3396C>T (p.Pro1132=)
|
rs774980129
|
0.00002
|
NM_000368.5(TSC1):c.364-7C>T
|
rs775465260
|
0.00002
|
NM_000368.5(TSC1):c.370A>G (p.Thr124Ala)
|
rs745871522
|
0.00002
|
NM_000368.5(TSC1):c.509-13G>A
|
rs746269100
|
0.00002
|
NM_000368.5(TSC1):c.531C>T (p.Leu177=)
|
rs752615412
|
0.00002
|
NM_000368.5(TSC1):c.597C>T (p.Phe199=)
|
rs202242304
|
0.00002
|
NM_000368.5(TSC1):c.696A>G (p.Glu232=)
|
rs1588345709
|
0.00002
|
NM_000368.5(TSC1):c.69C>T (p.Asp23=)
|
rs769282604
|
0.00002
|
NM_000368.5(TSC1):c.720T>G (p.His240Gln)
|
rs779872953
|
0.00002
|
NM_000368.5(TSC1):c.762T>C (p.Asp254=)
|
rs780005416
|
0.00002
|
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu)
|
rs148756522
|
0.00002
|
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg)
|
rs796053452
|
0.00002
|
NM_000548.5(TSC2):c.1015G>A (p.Val339Ile)
|
rs559727962
|
0.00002
|
NM_000548.5(TSC2):c.101A>C (p.Lys34Thr)
|
rs777988634
|
0.00002
|
NM_000548.5(TSC2):c.1071G>A (p.Ala357=)
|
rs776395163
|
0.00002
|
NM_000548.5(TSC2):c.1093A>G (p.Ile365Val)
|
rs370403197
|
0.00002
|
NM_000548.5(TSC2):c.1119+6G>C
|
rs397515305
|
0.00002
|
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu)
|
rs45517154
|
0.00002
|
NM_000548.5(TSC2):c.1194C>T (p.Asn398=)
|
rs369172347
|
0.00002
|
NM_000548.5(TSC2):c.1257+8C>A
|
rs767392684
|
0.00002
|
NM_000548.5(TSC2):c.1258-5G>T
|
rs925954967
|
0.00002
|
NM_000548.5(TSC2):c.1309G>C (p.Ala437Pro)
|
rs764967942
|
0.00002
|
NM_000548.5(TSC2):c.139-6C>T
|
rs778516569
|
0.00002
|
NM_000548.5(TSC2):c.1444-13T>C
|
rs45447093
|
0.00002
|
NM_000548.5(TSC2):c.1458C>T (p.Asn486=)
|
rs200532154
|
0.00002
|
NM_000548.5(TSC2):c.1491C>T (p.Pro497=)
|
rs781367910
|
0.00002
|
NM_000548.5(TSC2):c.1600-21G>C
|
rs137854149
|
0.00002
|
NM_000548.5(TSC2):c.1601T>G (p.Val534Gly)
|
rs924098595
|
0.00002
|
NM_000548.5(TSC2):c.1818C>T (p.Ile606=)
|
rs547389841
|
0.00002
|
NM_000548.5(TSC2):c.1842C>G (p.Ala614=)
|
rs201575136
|
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.2027G>T (p.Gly676Val)
|
rs754556513
|
0.00002
|
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg)
|
rs1489623582
|
0.00002
|
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln)
|
rs766442736
|
0.00002
|
NM_000548.5(TSC2):c.2310G>C (p.Leu770=)
|
rs772380298
|
0.00002
|
NM_000548.5(TSC2):c.2358C>T (p.Arg786=)
|
rs372834284
|
0.00002
|
NM_000548.5(TSC2):c.2404A>G (p.Ser802Gly)
|
rs200929621
|
0.00002
|
NM_000548.5(TSC2):c.2415C>T (p.Val805=)
|
rs45517235
|
0.00002
|
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)
|
rs45517249
|
0.00002
|
NM_000548.5(TSC2):c.2607C>T (p.Phe869=)
|
rs750336814
|
0.00002
|
NM_000548.5(TSC2):c.2628C>T (p.Thr876=)
|
rs778678783
|
0.00002
|
NM_000548.5(TSC2):c.2674G>A (p.Val892Ile)
|
rs376801256
|
0.00002
|
NM_000548.5(TSC2):c.270G>A (p.Gln90=)
|
rs779310889
|
0.00002
|
NM_000548.5(TSC2):c.2962C>T (p.Arg988Cys)
|
rs763047420
|
0.00002
|
NM_000548.5(TSC2):c.298G>A (p.Ala100Thr)
|
rs369314296
|
0.00002
|
NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn)
|
rs149808366
|
0.00002
|
NM_000548.5(TSC2):c.3028C>G (p.Gln1010Glu)
|
rs45514100
|
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.3270C>T (p.Ser1090=)
|
rs754951889
|
0.00002
|
NM_000548.5(TSC2):c.3285-19C>T
|
rs45517291
|
0.00002
|
NM_000548.5(TSC2):c.3285-5C>T
|
rs1444989940
|
0.00002
|
NM_000548.5(TSC2):c.344G>A (p.Arg115His)
|
rs764529584
|
0.00002
|
NM_000548.5(TSC2):c.3482C>T (p.Ala1161Val)
|
rs397514901
|
0.00002
|
NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu)
|
rs778069675
|
0.00002
|
NM_000548.5(TSC2):c.354C>G (p.Val118=)
|
rs762228318
|
0.00002
|
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=)
|
rs754945653
|
0.00002
|
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg)
|
rs767059758
|
0.00002
|
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys)
|
rs1020561347
|
0.00002
|
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val)
|
rs371239156
|
0.00002
|
NM_000548.5(TSC2):c.3993T>A (p.Asp1331Glu)
|
rs776049462
|
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.4077C>T (p.Ile1359=)
|
rs150999168
|
0.00002
|
NM_000548.5(TSC2):c.408T>G (p.Leu136=)
|
rs1037058497
|
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.411C>T (p.His137=)
|
rs776129896
|
0.00002
|
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=)
|
rs769653533
|
0.00002
|
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=)
|
rs911307922
|
0.00002
|
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val)
|
rs757579310
|
0.00002
|
NM_000548.5(TSC2):c.4292C>T (p.Ser1431Leu)
|
rs375785710
|
0.00002
|
NM_000548.5(TSC2):c.431A>G (p.Lys144Arg)
|
rs769286175
|
0.00002
|
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg)
|
rs45517338
|
0.00002
|
NM_000548.5(TSC2):c.4436C>T (p.Ala1479Val)
|
rs397515242
|
0.00002
|
NM_000548.5(TSC2):c.4440A>G (p.Leu1480=)
|
rs756991335
|
0.00002
|
NM_000548.5(TSC2):c.4461C>T (p.Ser1487=)
|
rs777104003
|
0.00002
|
NM_000548.5(TSC2):c.4494-10C>T
|
rs753499012
|
0.00002
|
NM_000548.5(TSC2):c.4585C>T (p.Arg1529Trp)
|
rs1051502900
|
0.00002
|
NM_000548.5(TSC2):c.4590G>A (p.Ser1530=)
|
rs377377367
|
0.00002
|
NM_000548.5(TSC2):c.4599C>T (p.Leu1533=)
|
rs768431568
|
0.00002
|
NM_000548.5(TSC2):c.4617A>G (p.Ser1539=)
|
rs201038907
|
0.00002
|
NM_000548.5(TSC2):c.4662+16C>T
|
rs45517356
|
0.00002
|
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=)
|
rs151140709
|
0.00002
|
NM_000548.5(TSC2):c.482-14C>T
|
rs757054946
|
0.00002
|
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn)
|
rs886051795
|
0.00002
|
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn)
|
rs45482398
|
0.00002
|
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn)
|
rs137853999
|
0.00002
|
NM_000548.5(TSC2):c.4973A>G (p.Lys1658Arg)
|
rs1050594534
|
0.00002
|
NM_000548.5(TSC2):c.5004T>C (p.Phe1668=)
|
rs745787082
|
0.00002
|
NM_000548.5(TSC2):c.5112T>A (p.Ser1704=)
|
rs769158004
|
0.00002
|
NM_000548.5(TSC2):c.5160+7G>C
|
rs45506600
|
0.00002
|
NM_000548.5(TSC2):c.5193C>T (p.Asn1731=)
|
rs753336580
|
0.00002
|
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys)
|
rs781630603
|
0.00002
|
NM_000548.5(TSC2):c.5260-12C>T
|
rs769264472
|
0.00002
|
NM_000548.5(TSC2):c.5260-9T>C
|
rs775095745
|
0.00002
|
NM_000548.5(TSC2):c.5274C>T (p.Ala1758=)
|
rs752945858
|
0.00002
|
NM_000548.5(TSC2):c.5279A>G (p.Tyr1760Cys)
|
rs1261020269
|
0.00002
|
NM_000548.5(TSC2):c.5301G>C (p.Leu1767=)
|
rs886051798
|
0.00002
|
NM_000548.5(TSC2):c.5328C>T (p.Ala1776=)
|
rs757292336
|
0.00002
|
NM_000548.5(TSC2):c.5396C>T (p.Ser1799Leu)
|
rs778484981
|
0.00002
|
NM_000548.5(TSC2):c.5412C>T (p.Thr1804=)
|
rs397515252
|
0.00002
|
NM_000548.5(TSC2):c.5415G>A (p.Glu1805=)
|
rs982803529
|
0.00002
|
NM_000548.5(TSC2):c.623G>A (p.Arg208Gln)
|
rs368386966
|
0.00002
|
NM_000548.5(TSC2):c.651C>G (p.Val217=)
|
rs780004703
|
0.00002
|
NM_000548.5(TSC2):c.721G>A (p.Val241Ile)
|
rs200943828
|
0.00002
|
NM_000548.5(TSC2):c.735C>T (p.Arg245=)
|
rs763419528
|
0.00002
|
NM_000548.5(TSC2):c.848G>A (p.Arg283Lys)
|
rs1255519055
|
0.00002
|
NM_000548.5(TSC2):c.945G>A (p.Ser315=)
|
rs763948768
|
0.00002
|
NM_000548.5(TSC2):c.993C>T (p.Asn331=)
|
rs45517153
|
0.00002
|
NM_000368.4(TSC1):c.-227G>A
|
rs886063629
|
0.00001
|
NM_000368.5(TSC1):c.*1396T>C
|
rs397514790
|
0.00001
|
NM_000368.5(TSC1):c.*1519del
|
rs886063607
|
0.00001
|
NM_000368.5(TSC1):c.*333C>A
|
rs886063618
|
0.00001
|
NM_000368.5(TSC1):c.*4845G>T
|
rs886063562
|
0.00001
|
NM_000368.5(TSC1):c.-10G>A
|
rs756989263
|
0.00001
|
NM_000368.5(TSC1):c.1002G>A (p.Ser334=)
|
rs200820603
|
0.00001
|
NM_000368.5(TSC1):c.1050T>C (p.Ser350=)
|
rs150777389
|
0.00001
|
NM_000368.5(TSC1):c.1054G>A (p.Val352Ile)
|
rs796053447
|
0.00001
|
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr)
|
rs876660024
|
0.00001
|
NM_000368.5(TSC1):c.106+4A>G
|
rs373075566
|
0.00001
|
NM_000368.5(TSC1):c.107-15C>T
|
rs1448464915
|
0.00001
|
NM_000368.5(TSC1):c.1078A>C (p.Thr360Pro)
|
rs201738258
|
0.00001
|
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser)
|
rs397514864
|
0.00001
|
NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala)
|
rs1412914051
|
0.00001
|
NM_000368.5(TSC1):c.109C>T (p.Arg37Cys)
|
rs1309560054
|
0.00001
|
NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala)
|
rs760638759
|
0.00001
|
NM_000368.5(TSC1):c.1116T>C (p.Pro372=)
|
rs1311647964
|
0.00001
|
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser)
|
rs1064796512
|
0.00001
|
NM_000368.5(TSC1):c.1144G>A (p.Gly382Ser)
|
rs367564729
|
0.00001
|
NM_000368.5(TSC1):c.1159C>T (p.Pro387Ser)
|
rs1845906327
|
0.00001
|
NM_000368.5(TSC1):c.1166G>A (p.Gly389Glu)
|
rs752575728
|
0.00001
|
NM_000368.5(TSC1):c.1191A>G (p.Pro397=)
|
rs370281825
|
0.00001
|
NM_000368.5(TSC1):c.1193C>T (p.Ala398Val)
|
rs918660416
|
0.00001
|
NM_000368.5(TSC1):c.1200C>G (p.Leu400=)
|
rs767514820
|
0.00001
|
NM_000368.5(TSC1):c.1206T>C (p.His402=)
|
rs1845902050
|
0.00001
|
NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys)
|
rs143502728
|
0.00001
|
NM_000368.5(TSC1):c.121C>T (p.Leu41Phe)
|
rs118203334
|
0.00001
|
NM_000368.5(TSC1):c.1233C>T (p.Leu411=)
|
rs1588321365
|
0.00001
|
NM_000368.5(TSC1):c.1237C>G (p.Gln413Glu)
|
rs1588321339
|
0.00001
|
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg)
|
rs1060503218
|
0.00001
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
NM_000368.5(TSC1):c.1257C>G (p.Pro419=)
|
rs369642207
|
0.00001
|
NM_000368.5(TSC1):c.1263+4C>T
|
rs1554817077
|
0.00001
|
NM_000368.5(TSC1):c.1282G>C (p.Ala428Pro)
|
rs1845728007
|
0.00001
|
NM_000368.5(TSC1):c.1283C>T (p.Ala428Val)
|
rs1554816420
|
0.00001
|
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val)
|
rs199800297
|
0.00001
|
NM_000368.5(TSC1):c.133T>C (p.Leu45=)
|
rs755226092
|
0.00001
|
NM_000368.5(TSC1):c.135G>A (p.Leu45=)
|
rs149278759
|
0.00001
|
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg)
|
rs587778722
|
0.00001
|
NM_000368.5(TSC1):c.1439-10T>A
|
rs1060504852
|
0.00001
|
NM_000368.5(TSC1):c.1439-11C>T
|
rs1845662022
|
0.00001
|
NM_000368.5(TSC1):c.1481C>T (p.Ala494Val)
|
rs1845656247
|
0.00001
|
NM_000368.5(TSC1):c.1489G>C (p.Val497Leu)
|
rs946491568
|
0.00001
|
NM_000368.5(TSC1):c.1539A>G (p.Pro513=)
|
rs755055358
|
0.00001
|
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp)
|
rs118203342
|
0.00001
|
NM_000368.5(TSC1):c.1562C>T (p.Ser521Leu)
|
rs759379027
|
0.00001
|
NM_000368.5(TSC1):c.1564G>C (p.Ala522Pro)
|
rs1461138345
|
0.00001
|
NM_000368.5(TSC1):c.1580A>G (p.Gln527Arg)
|
rs767708806
|
0.00001
|
NM_000368.5(TSC1):c.1590C>T (p.Ser530=)
|
rs762424091
|
0.00001
|
NM_000368.5(TSC1):c.1596C>T (p.Asn532=)
|
rs759461471
|
0.00001
|
NM_000368.5(TSC1):c.1626G>A (p.Lys542=)
|
rs756935981
|
0.00001
|
NM_000368.5(TSC1):c.166C>T (p.Pro56Ser)
|
rs1330089369
|
0.00001
|
NM_000368.5(TSC1):c.168G>A (p.Pro56=)
|
rs781483110
|
0.00001
|
NM_000368.5(TSC1):c.1779A>G (p.Arg593=)
|
rs964191879
|
0.00001
|
NM_000368.5(TSC1):c.177C>T (p.His59=)
|
rs767647768
|
0.00001
|
NM_000368.5(TSC1):c.1780G>A (p.Val594Met)
|
rs1845623814
|
0.00001
|
NM_000368.5(TSC1):c.1794C>T (p.Ser598=)
|
rs766438395
|
0.00001
|
NM_000368.5(TSC1):c.1795G>A (p.Gly599Arg)
|
rs761959210
|
0.00001
|
NM_000368.5(TSC1):c.1800G>C (p.Gln600His)
|
rs1254353359
|
0.00001
|
NM_000368.5(TSC1):c.1809G>A (p.Pro603=)
|
rs112434645
|
0.00001
|
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys)
|
rs1057522817
|
0.00001
|
NM_000368.5(TSC1):c.1816C>T (p.His606Tyr)
|
rs1343881428
|
0.00001
|
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe)
|
rs1554815795
|
0.00001
|
NM_000368.5(TSC1):c.181C>T (p.Leu61=)
|
rs752047592
|
0.00001
|
NM_000368.5(TSC1):c.185C>G (p.Thr62Ser)
|
rs1846917604
|
0.00001
|
NM_000368.5(TSC1):c.1869G>A (p.Lys623=)
|
rs778556382
|
0.00001
|
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile)
|
rs754401816
|
0.00001
|
NM_000368.5(TSC1):c.1882T>C (p.Leu628=)
|
rs375534013
|
0.00001
|
NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala)
|
rs1485955306
|
0.00001
|
NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr)
|
rs914628341
|
0.00001
|
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg)
|
rs1419720341
|
0.00001
|
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg)
|
rs748901883
|
0.00001
|
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu)
|
rs118203623
|
0.00001
|
NM_000368.5(TSC1):c.2064C>T (p.Ile688=)
|
rs878853963
|
0.00001
|
NM_000368.5(TSC1):c.2066G>A (p.Arg689His)
|
rs200827913
|
0.00001
|
NM_000368.5(TSC1):c.2085G>A (p.Leu695=)
|
rs767518902
|
0.00001
|
NM_000368.5(TSC1):c.2195A>G (p.His732Arg)
|
rs878853964
|
0.00001
|
NM_000368.5(TSC1):c.2196T>C (p.His732=)
|
rs776441369
|
0.00001
|
NM_000368.5(TSC1):c.2208+23G>A
|
rs118203658
|
0.00001
|
NM_000368.5(TSC1):c.2226A>G (p.Leu742=)
|
rs397514878
|
0.00001
|
NM_000368.5(TSC1):c.2268A>G (p.Lys756=)
|
rs760004541
|
0.00001
|
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His)
|
rs776386313
|
0.00001
|
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr)
|
rs760208449
|
0.00001
|
NM_000368.5(TSC1):c.2392-14G>A
|
rs1057524717
|
0.00001
|
NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr)
|
rs118203690
|
0.00001
|
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)
|
rs761281095
|
0.00001
|
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val)
|
rs751128287
|
0.00001
|
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg)
|
rs118203699
|
0.00001
|
NM_000368.5(TSC1):c.2502+3A>G
|
rs1349115830
|
0.00001
|
NM_000368.5(TSC1):c.2503-21T>C
|
rs118203703
|
0.00001
|
NM_000368.5(TSC1):c.2520G>A (p.Ser840=)
|
rs547498792
|
0.00001
|
NM_000368.5(TSC1):c.2556G>C (p.Leu852=)
|
rs770381040
|
0.00001
|
NM_000368.5(TSC1):c.2597T>G (p.Leu866Arg)
|
rs1845328263
|
0.00001
|
NM_000368.5(TSC1):c.2604C>T (p.Asn868=)
|
rs147163264
|
0.00001
|
NM_000368.5(TSC1):c.2626-5T>C
|
rs1444272064
|
0.00001
|
NM_000368.5(TSC1):c.2649C>G (p.Ala883=)
|
rs1279318276
|
0.00001
|
NM_000368.5(TSC1):c.2679C>T (p.Ser893=)
|
rs374311456
|
0.00001
|
NM_000368.5(TSC1):c.2722C>T (p.Arg908Trp)
|
rs748845915
|
0.00001
|
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln)
|
rs780115763
|
0.00001
|
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro)
|
rs397514873
|
0.00001
|
NM_000368.5(TSC1):c.2766T>C (p.Leu922=)
|
rs546119844
|
0.00001
|
NM_000368.5(TSC1):c.2766T>G (p.Leu922=)
|
rs546119844
|
0.00001
|
NM_000368.5(TSC1):c.2776C>G (p.Gln926Glu)
|
rs397514879
|
0.00001
|
NM_000368.5(TSC1):c.2781G>A (p.Lys927=)
|
rs118203733
|
0.00001
|
NM_000368.5(TSC1):c.2796T>C (p.Asp932=)
|
rs766871150
|
0.00001
|
NM_000368.5(TSC1):c.2813+5C>T
|
rs1060503223
|
0.00001
|
NM_000368.5(TSC1):c.2814-9A>G
|
rs878853965
|
0.00001
|
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr)
|
rs751362258
|
0.00001
|
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His)
|
rs767946427
|
0.00001
|
NM_000368.5(TSC1):c.289A>G (p.Ile97Val)
|
rs138541569
|
0.00001
|
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)
|
rs397514859
|
0.00001
|
NM_000368.5(TSC1):c.2964A>G (p.Ala988=)
|
rs1057520482
|
0.00001
|
NM_000368.5(TSC1):c.2975+6A>T
|
rs1060503220
|
0.00001
|
NM_000368.5(TSC1):c.2976-18T>C
|
rs397514866
|
0.00001
|
NM_000368.5(TSC1):c.2976-2A>G
|
rs1588288463
|
0.00001
|
NM_000368.5(TSC1):c.2994C>T (p.Asp998=)
|
rs923543734
|
0.00001
|
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg)
|
rs780224196
|
0.00001
|
NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp)
|
rs552217429
|
0.00001
|
NM_000368.5(TSC1):c.3010A>G (p.Met1004Val)
|
rs371879917
|
0.00001
|
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr)
|
rs764738792
|
0.00001
|
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser)
|
rs1263094349
|
0.00001
|
NM_000368.5(TSC1):c.3029A>G (p.Glu1010Gly)
|
rs1267230279
|
0.00001
|
NM_000368.5(TSC1):c.3032C>A (p.Ala1011Glu)
|
rs796053449
|
0.00001
|
NM_000368.5(TSC1):c.3046G>A (p.Gly1016Ser)
|
rs1020905743
|
0.00001
|
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp)
|
rs1313165721
|
0.00001
|
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr)
|
rs533565295
|
0.00001
|
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)
|
rs796053462
|
0.00001
|
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile)
|
rs587778726
|
0.00001
|
NM_000368.5(TSC1):c.3147G>C (p.Glu1049Asp)
|
rs397514831
|
0.00001
|
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu)
|
rs753263747
|
0.00001
|
NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln)
|
rs755396992
|
0.00001
|
NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg)
|
rs1167362899
|
0.00001
|
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=)
|
rs878853966
|
0.00001
|
NM_000368.5(TSC1):c.3228C>T (p.Thr1076=)
|
rs140622357
|
0.00001
|
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln)
|
rs550526986
|
0.00001
|
NM_000368.5(TSC1):c.3289C>T (p.Arg1097Cys)
|
rs779599439
|
0.00001
|
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His)
|
rs118203750
|
0.00001
|
NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg)
|
rs876660132
|
0.00001
|
NM_000368.5(TSC1):c.3300C>T (p.Ser1100=)
|
rs754282309
|
0.00001
|
NM_000368.5(TSC1):c.331C>T (p.Pro111Ser)
|
rs748669519
|
0.00001
|
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=)
|
rs118203752
|
0.00001
|
NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser)
|
rs118203753
|
0.00001
|
NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile)
|
rs775420987
|
0.00001
|
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=)
|
rs1157060310
|
0.00001
|
NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val)
|
rs772233665
|
0.00001
|
NM_000368.5(TSC1):c.3402C>T (p.Asn1134=)
|
rs769266225
|
0.00001
|
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu)
|
rs751398082
|
0.00001
|
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro)
|
rs764018144
|
0.00001
|
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu)
|
rs751126355
|
0.00001
|
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=)
|
rs763931959
|
0.00001
|
NM_000368.5(TSC1):c.3424C>T (p.Pro1142Ser)
|
rs1060503227
|
0.00001
|
NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu)
|
rs767904247
|
0.00001
|
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)
|
rs397514806
|
0.00001
|
NM_000368.5(TSC1):c.364A>G (p.Met122Val)
|
rs1846685026
|
0.00001
|
NM_000368.5(TSC1):c.376G>A (p.Val126Ile)
|
rs397514843
|
0.00001
|
NM_000368.5(TSC1):c.378C>T (p.Val126=)
|
rs373173550
|
0.00001
|
NM_000368.5(TSC1):c.38T>C (p.Met13Thr)
|
rs1041071543
|
0.00001
|
NM_000368.5(TSC1):c.395G>C (p.Gly132Ala)
|
rs397514784
|
0.00001
|
NM_000368.5(TSC1):c.397G>A (p.Val133Ile)
|
rs118203381
|
0.00001
|
NM_000368.5(TSC1):c.413C>A (p.Thr138Asn)
|
rs1163879822
|
0.00001
|
NM_000368.5(TSC1):c.45C>T (p.Asp15=)
|
rs1457262106
|
0.00001
|
NM_000368.5(TSC1):c.514G>A (p.Val172Met)
|
rs952813051
|
0.00001
|
NM_000368.5(TSC1):c.519G>A (p.Ala173=)
|
rs768999400
|
0.00001
|
NM_000368.5(TSC1):c.51C>G (p.Pro17=)
|
rs768175095
|
0.00001
|
NM_000368.5(TSC1):c.555C>T (p.Tyr185=)
|
rs118203398
|
0.00001
|
NM_000368.5(TSC1):c.598G>A (p.Val200Ile)
|
rs118203410
|
0.00001
|
NM_000368.5(TSC1):c.61G>T (p.Val21Leu)
|
rs1392596033
|
0.00001
|
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp)
|
rs749030456
|
0.00001
|
NM_000368.5(TSC1):c.651A>G (p.Glu217=)
|
rs766250769
|
0.00001
|
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn)
|
rs984306144
|
0.00001
|
NM_000368.5(TSC1):c.72C>T (p.Asp24=)
|
rs376527838
|
0.00001
|
NM_000368.5(TSC1):c.737+6G>A
|
rs567909130
|
0.00001
|
NM_000368.5(TSC1):c.771C>T (p.Ile257=)
|
rs1060504854
|
0.00001
|
NM_000368.5(TSC1):c.772G>A (p.Glu258Lys)
|
rs118203450
|
0.00001
|
NM_000368.5(TSC1):c.774G>A (p.Glu258=)
|
rs1554817678
|
0.00001
|
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu)
|
rs878853968
|
0.00001
|
NM_000368.5(TSC1):c.830T>C (p.Val277Ala)
|
rs200749357
|
0.00001
|
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys)
|
rs770653972
|
0.00001
|
NM_000368.5(TSC1):c.871G>A (p.Asp291Asn)
|
rs755195460
|
0.00001
|
NM_000368.5(TSC1):c.880A>G (p.Thr294Ala)
|
rs1588326742
|
0.00001
|
NM_000368.5(TSC1):c.884G>C (p.Ser295Thr)
|
rs1415705359
|
0.00001
|
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala)
|
rs796053456
|
0.00001
|
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile)
|
rs370916731
|
0.00001
|
NM_000368.5(TSC1):c.903G>C (p.Gln301His)
|
rs762200890
|
0.00001
|
NM_000368.5(TSC1):c.944C>G (p.Ser315Cys)
|
rs1332978347
|
0.00001
|
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln)
|
rs375956049
|
0.00001
|
NM_000368.5(TSC1):c.95A>G (p.Asn32Ser)
|
rs1222555421
|
0.00001
|
NM_000368.5(TSC1):c.960A>G (p.Leu320=)
|
rs770183315
|
0.00001
|
NM_000368.5(TSC1):c.966G>A (p.Met322Ile)
|
rs397514807
|
0.00001
|
NM_000368.5(TSC1):c.975G>T (p.Gln325His)
|
rs1554817398
|
0.00001
|
NM_000548.5(TSC2):c.*4C>T
|
rs368282661
|
0.00001
|
NM_000548.5(TSC2):c.*6G>C
|
rs397515008
|
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.1033C>T (p.Leu345Phe)
|
rs397515146
|
0.00001
|
NM_000548.5(TSC2):c.1035C>A (p.Leu345=)
|
rs1476429068
|
0.00001
|
NM_000548.5(TSC2):c.1046A>G (p.Tyr349Cys)
|
rs1060500916
|
0.00001
|
NM_000548.5(TSC2):c.1057C>G (p.Leu353Val)
|
rs902767624
|
0.00001
|
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)
|
rs796053483
|
0.00001
|
NM_000548.5(TSC2):c.1116C>T (p.Leu372=)
|
rs587780973
|
0.00001
|
NM_000548.5(TSC2):c.1134G>A (p.Pro378=)
|
rs754343186
|
0.00001
|
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile)
|
rs758511419
|
0.00001
|
NM_000548.5(TSC2):c.1146C>A (p.Thr382=)
|
rs887128869
|
0.00001
|
NM_000548.5(TSC2):c.1154A>G (p.His385Arg)
|
rs757353933
|
0.00001
|
NM_000548.5(TSC2):c.1169C>T (p.Thr390Met)
|
rs1596303442
|
0.00001
|
NM_000548.5(TSC2):c.1187A>T (p.Asp396Val)
|
rs1365616275
|
0.00001
|
NM_000548.5(TSC2):c.1228C>G (p.Leu410Val)
|
rs528727637
|
0.00001
|
NM_000548.5(TSC2):c.123C>T (p.Thr41=)
|
rs1060504100
|
0.00001
|
NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys)
|
rs397515187
|
0.00001
|
NM_000548.5(TSC2):c.1342C>G (p.Leu448Val)
|
rs1413875392
|
0.00001
|
NM_000548.5(TSC2):c.1361+13C>T
|
rs900870796
|
0.00001
|
NM_000548.5(TSC2):c.1362-5C>T
|
rs372424945
|
0.00001
|
NM_000548.5(TSC2):c.1362-9G>A
|
rs763842281
|
0.00001
|
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys)
|
rs397515142
|
0.00001
|
NM_000548.5(TSC2):c.1370C>A (p.Ser457Tyr)
|
rs1278503244
|
0.00001
|
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln)
|
rs878854077
|
0.00001
|
NM_000548.5(TSC2):c.1381G>A (p.Val461Met)
|
rs796053486
|
0.00001
|
NM_000548.5(TSC2):c.1384C>T (p.Arg462Cys)
|
rs397515261
|
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.13A>G (p.Thr5Ala)
|
rs45517093
|
0.00001
|
NM_000548.5(TSC2):c.1401C>T (p.Asp467=)
|
rs1433989426
|
0.00001
|
NM_000548.5(TSC2):c.1422C>T (p.Leu474=)
|
rs565646854
|
0.00001
|
NM_000548.5(TSC2):c.1440T>C (p.Tyr480=)
|
rs45514794
|
0.00001
|
NM_000548.5(TSC2):c.1444-9C>T
|
rs780055493
|
0.00001
|
NM_000548.5(TSC2):c.1450C>T (p.Leu484=)
|
rs2087007486
|
0.00001
|
NM_000548.5(TSC2):c.1490C>A (p.Pro497His)
|
rs1484576810
|
0.00001
|
NM_000548.5(TSC2):c.1494G>A (p.Glu498=)
|
rs780112077
|
0.00001
|
NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln)
|
rs376285784
|
0.00001
|
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala)
|
rs772617064
|
0.00001
|
NM_000548.5(TSC2):c.1534C>G (p.Leu512Val)
|
rs772834557
|
0.00001
|
NM_000548.5(TSC2):c.1584G>A (p.Leu528=)
|
rs1478821497
|
0.00001
|
NM_000548.5(TSC2):c.1588A>G (p.Ile530Val)
|
rs786203470
|
0.00001
|
NM_000548.5(TSC2):c.1596G>A (p.Glu532=)
|
rs756466484
|
0.00001
|
NM_000548.5(TSC2):c.1600-4A>C
|
rs1164295969
|
0.00001
|
NM_000548.5(TSC2):c.1613C>T (p.Ser538Phe)
|
rs201334685
|
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.1629G>A (p.Pro543=)
|
rs750309571
|
0.00001
|
NM_000548.5(TSC2):c.1652C>T (p.Ala551Val)
|
rs1465307943
|
0.00001
|
NM_000548.5(TSC2):c.1653C>T (p.Ala551=)
|
rs202171361
|
0.00001
|
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu)
|
rs45471596
|
0.00001
|
NM_000548.5(TSC2):c.1662G>A (p.Ser554=)
|
rs775617895
|
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.1686A>T (p.Thr562=)
|
rs755900760
|
0.00001
|
NM_000548.5(TSC2):c.1689C>T (p.Ala563=)
|
rs779858018
|
0.00001
|
NM_000548.5(TSC2):c.170G>A (p.Arg57His)
|
rs397514949
|
0.00001
|
NM_000548.5(TSC2):c.1717-14T>C
|
rs780658386
|
0.00001
|
NM_000548.5(TSC2):c.1717-16C>T
|
rs45517191
|
0.00001
|
NM_000548.5(TSC2):c.1717-4del
|
rs1362347834
|
0.00001
|
NM_000548.5(TSC2):c.1718C>T (p.Thr573Ile)
|
rs773304374
|
0.00001
|
NM_000548.5(TSC2):c.1743C>A (p.Ser581Arg)
|
rs775195398
|
0.00001
|
NM_000548.5(TSC2):c.1746C>T (p.His582=)
|
rs876658921
|
0.00001
|
NM_000548.5(TSC2):c.1754G>A (p.Arg585His)
|
rs397515063
|
0.00001
|
NM_000548.5(TSC2):c.175C>T (p.Arg59Trp)
|
rs1015282988
|
0.00001
|
NM_000548.5(TSC2):c.176G>A (p.Arg59Gln)
|
rs1161261925
|
0.00001
|
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=)
|
rs45509094
|
0.00001
|
NM_000548.5(TSC2):c.1823G>C (p.Ser608Thr)
|
rs753235037
|
0.00001
|
NM_000548.5(TSC2):c.1833G>A (p.Arg611=)
|
rs1270155533
|
0.00001
|
NM_000548.5(TSC2):c.1836G>A (p.Leu612=)
|
rs758839898
|
0.00001
|
NM_000548.5(TSC2):c.1839+46G>A
|
rs397515180
|
0.00001
|
NM_000548.5(TSC2):c.1854G>C (p.Leu618=)
|
rs1060504088
|
0.00001
|
NM_000548.5(TSC2):c.1863G>A (p.Leu621=)
|
rs1485599658
|
0.00001
|
NM_000548.5(TSC2):c.1911C>T (p.Val637=)
|
rs543584836
|
0.00001
|
NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln)
|
rs753932484
|
0.00001
|
NM_000548.5(TSC2):c.1922G>T (p.Ser641Ile)
|
rs397514964
|
0.00001
|
NM_000548.5(TSC2):c.1923C>T (p.Ser641=)
|
rs1555505825
|
0.00001
|
NM_000548.5(TSC2):c.1944C>T (p.Tyr648=)
|
rs878925198
|
0.00001
|
NM_000548.5(TSC2):c.1945A>G (p.Met649Val)
|
rs762331610
|
0.00001
|
NM_000548.5(TSC2):c.1946+5G>A
|
rs766646261
|
0.00001
|
NM_000548.5(TSC2):c.1946+60G>C
|
rs45491895
|
0.00001
|
NM_000548.5(TSC2):c.1946+6C>T
|
rs754069880
|
0.00001
|
NM_000548.5(TSC2):c.1947-9C>T
|
rs747475590
|
0.00001
|
NM_000548.5(TSC2):c.1947G>A (p.Met649Ile)
|
rs775845436
|
0.00001
|
NM_000548.5(TSC2):c.1969A>C (p.Lys657Gln)
|
rs45488199
|
0.00001
|
NM_000548.5(TSC2):c.1979G>A (p.Ser660Asn)
|
rs754504918
|
0.00001
|
NM_000548.5(TSC2):c.1984C>T (p.Pro662Ser)
|
rs1309151152
|
0.00001
|
NM_000548.5(TSC2):c.1993C>G (p.Pro665Ala)
|
rs1184908674
|
0.00001
|
NM_000548.5(TSC2):c.199G>A (p.Val67Ile)
|
rs774506901
|
0.00001
|
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu)
|
rs794727221
|
0.00001
|
NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser)
|
rs764840082
|
0.00001
|
NM_000548.5(TSC2):c.202G>A (p.Ala68Thr)
|
rs767626323
|
0.00001
|
NM_000548.5(TSC2):c.2030C>T (p.Pro677Leu)
|
rs376974525
|
0.00001
|
NM_000548.5(TSC2):c.2035G>A (p.Val679Met)
|
rs746315218
|
0.00001
|
NM_000548.5(TSC2):c.2038C>T (p.Arg680Trp)
|
rs876658578
|
0.00001
|
NM_000548.5(TSC2):c.2046G>A (p.Gly682=)
|
rs749536123
|
0.00001
|
NM_000548.5(TSC2):c.2047T>C (p.Ser683Pro)
|
rs878854080
|
0.00001
|
NM_000548.5(TSC2):c.2050G>A (p.Val684Met)
|
rs779275341
|
0.00001
|
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=)
|
rs1186913814
|
0.00001
|
NM_000548.5(TSC2):c.2062C>T (p.Leu688=)
|
rs1479736808
|
0.00001
|
NM_000548.5(TSC2):c.2074G>A (p.Val692Ile)
|
rs201769220
|
0.00001
|
NM_000548.5(TSC2):c.2077C>T (p.Leu693=)
|
rs1167258871
|
0.00001
|
NM_000548.5(TSC2):c.2079G>C (p.Leu693=)
|
rs764932531
|
0.00001
|
NM_000548.5(TSC2):c.2098-13C>T
|
rs375903453
|
0.00001
|
NM_000548.5(TSC2):c.2098-4G>T
|
rs1306044216
|
0.00001
|
NM_000548.5(TSC2):c.2098-9T>C
|
rs755416873
|
0.00001
|
NM_000548.5(TSC2):c.2147C>T (p.Ser716Phe)
|
rs781153452
|
0.00001
|
NM_000548.5(TSC2):c.2166C>T (p.Leu722=)
|
rs1009050362
|
0.00001
|
NM_000548.5(TSC2):c.2196G>C (p.Gln732His)
|
rs765646245
|
0.00001
|
NM_000548.5(TSC2):c.2221-14G>T
|
rs763473889
|
0.00001
|
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile)
|
rs767770242
|
0.00001
|
NM_000548.5(TSC2):c.2238A>G (p.Thr746=)
|
rs1060504115
|
0.00001
|
NM_000548.5(TSC2):c.2242G>A (p.Glu748Lys)
|
rs1442440961
|
0.00001
|
NM_000548.5(TSC2):c.2245C>T (p.Arg749Trp)
|
rs377397369
|
0.00001
|
NM_000548.5(TSC2):c.225+4G>A
|
rs201901739
|
0.00001
|
NM_000548.5(TSC2):c.2256C>T (p.Gly752=)
|
rs778981034
|
0.00001
|
NM_000548.5(TSC2):c.226-4A>G
|
rs886051786
|
0.00001
|
NM_000548.5(TSC2):c.2273C>G (p.Ser758Cys)
|
rs45517223
|
0.00001
|
NM_000548.5(TSC2):c.2297T>C (p.Val766Ala)
|
rs780682938
|
0.00001
|
NM_000548.5(TSC2):c.2298G>C (p.Val766=)
|
rs1157138703
|
0.00001
|
NM_000548.5(TSC2):c.2307G>A (p.Val769=)
|
rs1479110270
|
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.2331T>C (p.His777=)
|
rs139963953
|
0.00001
|
NM_000548.5(TSC2):c.2351A>G (p.Lys784Arg)
|
rs1489548085
|
0.00001
|
NM_000548.5(TSC2):c.2355+6A>T
|
rs904030973
|
0.00001
|
NM_000548.5(TSC2):c.2355+8G>A
|
rs199558375
|
0.00001
|
NM_000548.5(TSC2):c.2356-11G>C
|
rs756976305
|
0.00001
|
NM_000548.5(TSC2):c.2364G>A (p.Met788Ile)
|
rs773786955
|
0.00001
|
NM_000548.5(TSC2):c.2365G>A (p.Val789Ile)
|
rs779472379
|
0.00001
|
NM_000548.5(TSC2):c.2366T>C (p.Val789Ala)
|
rs748669016
|
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.2416G>A (p.Val806Met)
|
rs796053473
|
0.00001
|
NM_000548.5(TSC2):c.2436C>T (p.Ser812=)
|
rs767178958
|
0.00001
|
NM_000548.5(TSC2):c.2454C>T (p.Ile818=)
|
rs786201599
|
0.00001
|
NM_000548.5(TSC2):c.2467C>T (p.Leu823=)
|
rs554509064
|
0.00001
|
NM_000548.5(TSC2):c.2473G>A (p.Val825Ile)
|
rs149860212
|
0.00001
|
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile)
|
rs549612492
|
0.00001
|
NM_000548.5(TSC2):c.2546-10A>G
|
rs551894111
|
0.00001
|
NM_000548.5(TSC2):c.2546-15T>C
|
rs371256839
|
0.00001
|
NM_000548.5(TSC2):c.2546-4G>A
|
rs746958032
|
0.00001
|
NM_000548.5(TSC2):c.2553C>T (p.Ala851=)
|
rs745687916
|
0.00001
|
NM_000548.5(TSC2):c.2561C>T (p.Pro854Leu)
|
rs1180511535
|
0.00001
|
NM_000548.5(TSC2):c.2562G>A (p.Pro854=)
|
rs779606786
|
0.00001
|
NM_000548.5(TSC2):c.2571C>T (p.Tyr857=)
|
rs774063865
|
0.00001
|
NM_000548.5(TSC2):c.257C>T (p.Ala86Val)
|
rs1369594860
|
0.00001
|
NM_000548.5(TSC2):c.2598C>T (p.Ala866=)
|
rs1395372159
|
0.00001
|
NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu)
|
rs138527121
|
0.00001
|
NM_000548.5(TSC2):c.2625C>T (p.Tyr875=)
|
rs1475326651
|
0.00001
|
NM_000548.5(TSC2):c.2631C>T (p.Asn877=)
|
rs45517251
|
0.00001
|
NM_000548.5(TSC2):c.2639+15C>T
|
rs397515299
|
0.00001
|
NM_000548.5(TSC2):c.2653A>G (p.Ile885Val)
|
rs1555508581
|
0.00001
|
NM_000548.5(TSC2):c.2662C>T (p.Leu888=)
|
rs765057258
|
0.00001
|
NM_000548.5(TSC2):c.267G>T (p.Leu89Phe)
|
rs1286845026
|
0.00001
|
NM_000548.5(TSC2):c.2681C>T (p.Ala894Val)
|
rs777282955
|
0.00001
|
NM_000548.5(TSC2):c.2736C>T (p.Ile912=)
|
rs1366613803
|
0.00001
|
NM_000548.5(TSC2):c.273G>A (p.Pro91=)
|
rs772296140
|
0.00001
|
NM_000548.5(TSC2):c.2742+3G>A
|
rs373935836
|
0.00001
|
NM_000548.5(TSC2):c.2743-7C>G
|
rs566118686
|
0.00001
|
NM_000548.5(TSC2):c.2748G>A (p.Leu916=)
|
rs757674443
|
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.2766G>A (p.Leu922=)
|
rs772858520
|
0.00001
|
NM_000548.5(TSC2):c.2768C>G (p.Ser923Cys)
|
rs587778731
|
0.00001
|
NM_000548.5(TSC2):c.277C>T (p.Arg93Trp)
|
rs760688660
|
0.00001
|
NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn)
|
rs144329595
|
0.00001
|
NM_000548.5(TSC2):c.281C>T (p.Pro94Leu)
|
rs200045926
|
0.00001
|
NM_000548.5(TSC2):c.2820C>G (p.Leu940=)
|
rs876659493
|
0.00001
|
NM_000548.5(TSC2):c.2825A>G (p.Glu942Gly)
|
rs1018951391
|
0.00001
|
NM_000548.5(TSC2):c.2837+16G>A
|
rs397515095
|
0.00001
|
NM_000548.5(TSC2):c.2838-3T>C
|
rs553942147
|
0.00001
|
NM_000548.5(TSC2):c.2838-6C>T
|
rs528706539
|
0.00001
|
NM_000548.5(TSC2):c.2844G>A (p.Arg948=)
|
rs1060504114
|
0.00001
|
NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys)
|
rs147523833
|
0.00001
|
NM_000548.5(TSC2):c.2886C>T (p.Pro962=)
|
rs140202176
|
0.00001
|
NM_000548.5(TSC2):c.2901G>T (p.Lys967Asn)
|
rs1168031047
|
0.00001
|
NM_000548.5(TSC2):c.2902_2907del (p.Glu968_Ser969del)
|
rs1460562160
|
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.293G>A (p.Arg98Gln)
|
rs1478204355
|
0.00001
|
NM_000548.5(TSC2):c.2944G>T (p.Val982Leu)
|
rs773864188
|
0.00001
|
NM_000548.5(TSC2):c.2967-10C>T
|
rs1322718501
|
0.00001
|
NM_000548.5(TSC2):c.2967-8C>T
|
rs1060504085
|
0.00001
|
NM_000548.5(TSC2):c.2997C>T (p.Ser999=)
|
rs893757571
|
0.00001
|
NM_000548.5(TSC2):c.3007G>A (p.Ala1003Thr)
|
rs1555510234
|
0.00001
|
NM_000548.5(TSC2):c.3021C>T (p.Ser1007=)
|
rs201516931
|
0.00001
|
NM_000548.5(TSC2):c.3022G>A (p.Val1008Met)
|
rs397514985
|
0.00001
|
NM_000548.5(TSC2):c.3030G>A (p.Gln1010=)
|
rs776658284
|
0.00001
|
NM_000548.5(TSC2):c.3037G>A (p.Asp1013Asn)
|
rs45517279
|
0.00001
|
NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly)
|
rs1060500961
|
0.00001
|
NM_000548.5(TSC2):c.3054C>T (p.Leu1018=)
|
rs762570079
|
0.00001
|
NM_000548.5(TSC2):c.3057C>T (p.His1019=)
|
rs1060504102
|
0.00001
|
NM_000548.5(TSC2):c.3119C>T (p.Ala1040Val)
|
rs2089807202
|
0.00001
|
NM_000548.5(TSC2):c.3132-11C>T
|
rs2089819486
|
0.00001
|
NM_000548.5(TSC2):c.3158C>T (p.Ala1053Val)
|
rs760214724
|
0.00001
|
NM_000548.5(TSC2):c.3172A>G (p.Lys1058Glu)
|
rs2089826724
|
0.00001
|
NM_000548.5(TSC2):c.3201C>G (p.Val1067=)
|
rs781532053
|
0.00001
|
NM_000548.5(TSC2):c.3209C>T (p.Thr1070Met)
|
rs147989574
|
0.00001
|
NM_000548.5(TSC2):c.3216C>T (p.Ser1072=)
|
rs1306234469
|
0.00001
|
NM_000548.5(TSC2):c.3233G>A (p.Arg1078Gln)
|
rs368095502
|
0.00001
|
NM_000548.5(TSC2):c.327G>A (p.Val109=)
|
rs754348511
|
0.00001
|
NM_000548.5(TSC2):c.3284+6T>G
|
rs375837026
|
0.00001
|
NM_000548.5(TSC2):c.3285-12T>G
|
rs1233401491
|
0.00001
|
NM_000548.5(TSC2):c.3285-31G>A
|
rs397515248
|
0.00001
|
NM_000548.5(TSC2):c.3285C>T (p.Ser1095=)
|
rs745446277
|
0.00001
|
NM_000548.5(TSC2):c.3286T>C (p.Ser1096Pro)
|
rs755815612
|
0.00001
|
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=)
|
rs150126331
|
0.00001
|
NM_000548.5(TSC2):c.3301C>T (p.His1101Tyr)
|
rs1060500933
|
0.00001
|
NM_000548.5(TSC2):c.3318G>A (p.Lys1106=)
|
rs1060504119
|
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.336+61C>T
|
rs397514989
|
0.00001
|
NM_000548.5(TSC2):c.337-15G>C
|
rs772983704
|
0.00001
|
NM_000548.5(TSC2):c.337-3T>C
|
rs770515822
|
0.00001
|
NM_000548.5(TSC2):c.3385C>T (p.Arg1129Cys)
|
rs1028039505
|
0.00001
|
NM_000548.5(TSC2):c.3386G>A (p.Arg1129His)
|
rs1412967226
|
0.00001
|
NM_000548.5(TSC2):c.3390C>T (p.Ser1130=)
|
rs867238767
|
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.3397+15C>T
|
rs202246408
|
0.00001
|
NM_000548.5(TSC2):c.339C>A (p.Gly113=)
|
rs368451664
|
0.00001
|
NM_000548.5(TSC2):c.3415G>A (p.Val1139Ile)
|
rs759174655
|
0.00001
|
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu)
|
rs397515162
|
0.00001
|
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=)
|
rs749633483
|
0.00001
|
NM_000548.5(TSC2):c.3472C>G (p.Pro1158Ala)
|
rs759350468
|
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.3521G>A (p.Arg1174Gln)
|
rs368666554
|
0.00001
|
NM_000548.5(TSC2):c.3528T>C (p.Pro1176=)
|
rs1157894225
|
0.00001
|
NM_000548.5(TSC2):c.3535G>A (p.Glu1179Lys)
|
rs45483391
|
0.00001
|
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu)
|
rs751708490
|
0.00001
|
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=)
|
rs139313964
|
0.00001
|
NM_000548.5(TSC2):c.3555C>T (p.Ala1185=)
|
rs745762286
|
0.00001
|
NM_000548.5(TSC2):c.3570G>A (p.Leu1190=)
|
rs1366398727
|
0.00001
|
NM_000548.5(TSC2):c.3591C>T (p.Ile1197=)
|
rs765503216
|
0.00001
|
NM_000548.5(TSC2):c.3594G>A (p.Leu1198=)
|
rs202114637
|
0.00001
|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)
|
rs45438205
|
0.00001
|
NM_000548.5(TSC2):c.3606C>T (p.Pro1202=)
|
rs772580979
|
0.00001
|
NM_000548.5(TSC2):c.3611-9C>T
|
rs45517304
|
0.00001
|
NM_000548.5(TSC2):c.3620G>A (p.Ser1207Asn)
|
rs397515313
|
0.00001
|
NM_000548.5(TSC2):c.362C>G (p.Ala121Gly)
|
rs767755750
|
0.00001
|
NM_000548.5(TSC2):c.3648C>T (p.Leu1216=)
|
rs777246414
|
0.00001
|
NM_000548.5(TSC2):c.3682C>T (p.Leu1228=)
|
rs938124834
|
0.00001
|
NM_000548.5(TSC2):c.3687G>A (p.Gln1229=)
|
rs140384709
|
0.00001
|
NM_000548.5(TSC2):c.3690G>A (p.Glu1230=)
|
rs876659207
|
0.00001
|
NM_000548.5(TSC2):c.3696T>C (p.Ser1232=)
|
rs767812115
|
0.00001
|
NM_000548.5(TSC2):c.3699C>T (p.Asn1233=)
|
rs773240506
|
0.00001
|
NM_000548.5(TSC2):c.3705C>T (p.Leu1235=)
|
rs1386839308
|
0.00001
|
NM_000548.5(TSC2):c.370T>C (p.Phe124Leu)
|
rs547231441
|
0.00001
|
NM_000548.5(TSC2):c.3717G>A (p.Glu1239=)
|
rs765060368
|
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.3735G>A (p.Arg1245=)
|
rs756959674
|
0.00001
|
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=)
|
rs786202178
|
0.00001
|
NM_000548.5(TSC2):c.3780G>A (p.Thr1260=)
|
rs199742312
|
0.00001
|
NM_000548.5(TSC2):c.3783C>T (p.Ala1261=)
|
rs2090170500
|
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.3793C>T (p.Pro1265Ser)
|
rs45517311
|
0.00001
|
NM_000548.5(TSC2):c.3798G>A (p.Leu1266=)
|
rs1187813837
|
0.00001
|
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His)
|
rs200577441
|
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.3816G>A (p.Val1272=)
|
rs45517314
|
0.00001
|
NM_000548.5(TSC2):c.3817G>A (p.Ala1273Thr)
|
rs1596404280
|
0.00001
|
NM_000548.5(TSC2):c.381C>G (p.Ile127Met)
|
rs2085502591
|
0.00001
|
NM_000548.5(TSC2):c.384G>T (p.Lys128Asn)
|
rs748095129
|
0.00001
|
NM_000548.5(TSC2):c.3850C>T (p.Gln1284Ter)
|
rs753308966
|
0.00001
|
NM_000548.5(TSC2):c.3855A>G (p.Gly1285=)
|
rs891262541
|
0.00001
|
NM_000548.5(TSC2):c.3876C>G (p.Ser1292=)
|
rs1173548095
|
0.00001
|
NM_000548.5(TSC2):c.3883+5C>T
|
rs45448994
|
0.00001
|
NM_000548.5(TSC2):c.3884-8C>G
|
rs397515219
|
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.3939G>T (p.Glu1313Asp)
|
rs149340262
|
0.00001
|
NM_000548.5(TSC2):c.3941C>T (p.Pro1314Leu)
|
rs1217156011
|
0.00001
|
NM_000548.5(TSC2):c.3950T>C (p.Leu1317Ser)
|
rs2090425460
|
0.00001
|
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile)
|
rs767495365
|
0.00001
|
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val)
|
rs587778736
|
0.00001
|
NM_000548.5(TSC2):c.3963G>C (p.Glu1321Asp)
|
rs587778737
|
0.00001
|
NM_000548.5(TSC2):c.3996C>T (p.Ala1332=)
|
rs1421997373
|
0.00001
|
NM_000548.5(TSC2):c.4006-6T>C
|
rs1060500953
|
0.00001
|
NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe)
|
rs200411484
|
0.00001
|
NM_000548.5(TSC2):c.4017C>T (p.Val1339=)
|
rs876658217
|
0.00001
|
NM_000548.5(TSC2):c.4019C>T (p.Ser1340Phe)
|
rs753656246
|
0.00001
|
NM_000548.5(TSC2):c.4037C>T (p.Ser1346Leu)
|
rs45517326
|
0.00001
|
NM_000548.5(TSC2):c.4067G>A (p.Gly1356Asp)
|
rs747104864
|
0.00001
|
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu)
|
rs1555513920
|
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.4080G>A (p.Glu1360=)
|
rs786203798
|
0.00001
|
NM_000548.5(TSC2):c.4082G>A (p.Arg1361Gln)
|
rs762798984
|
0.00001
|
NM_000548.5(TSC2):c.4091C>T (p.Ser1364Phe)
|
rs1245757559
|
0.00001
|
NM_000548.5(TSC2):c.4146G>A (p.Leu1382=)
|
rs1162436739
|
0.00001
|
NM_000548.5(TSC2):c.4182G>A (p.Leu1394=)
|
rs1191824850
|
0.00001
|
NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser)
|
rs778147657
|
0.00001
|
NM_000548.5(TSC2):c.4211A>G (p.Lys1404Arg)
|
rs2090506505
|
0.00001
|
NM_000548.5(TSC2):c.4250G>A (p.Arg1417Gln)
|
rs1343536158
|
0.00001
|
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=)
|
rs1285012780
|
0.00001
|
NM_000548.5(TSC2):c.4265C>T (p.Thr1422Ile)
|
rs760230300
|
0.00001
|
NM_000548.5(TSC2):c.4275G>A (p.Gly1425=)
|
rs1057522238
|
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.4324G>A (p.Glu1442Lys)
|
rs45469392
|
0.00001
|
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala)
|
rs1459518095
|
0.00001
|
NM_000548.5(TSC2):c.4385C>G (p.Thr1462Ser)
|
rs373018205
|
0.00001
|
NM_000548.5(TSC2):c.4389C>T (p.Ile1463=)
|
rs1555514425
|
0.00001
|
NM_000548.5(TSC2):c.4408C>T (p.Arg1470Cys)
|
rs767889030
|
0.00001
|
NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser)
|
rs558737770
|
0.00001
|
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg)
|
rs1219556604
|
0.00001
|
NM_000548.5(TSC2):c.4425A>C (p.Val1475=)
|
rs878854106
|
0.00001
|
NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr)
|
rs370114027
|
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.4458C>T (p.Ala1486=)
|
rs761248238
|
0.00001
|
NM_000548.5(TSC2):c.446A>G (p.Asn149Ser)
|
rs1029118280
|
0.00001
|
NM_000548.5(TSC2):c.4494-15C>T
|
rs993595235
|
0.00001
|
NM_000548.5(TSC2):c.4503C>T (p.Phe1501=)
|
rs778332133
|
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.4555C>T (p.Leu1519=)
|
rs958487832
|
0.00001
|
NM_000548.5(TSC2):c.4569+7G>C
|
rs45497598
|
0.00001
|
NM_000548.5(TSC2):c.456C>T (p.His152=)
|
rs1596265401
|
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.4621G>A (p.Asp1541Asn)
|
rs796872464
|
0.00001
|
NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val)
|
rs878854109
|
0.00001
|
NM_000548.5(TSC2):c.4635C>T (p.Ile1545=)
|
rs757388437
|
0.00001
|
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile)
|
rs745895675
|
0.00001
|
NM_000548.5(TSC2):c.4659C>G (p.Gly1553=)
|
rs202212109
|
0.00001
|
NM_000548.5(TSC2):c.4663-43G>A
|
rs45517359
|
0.00001
|
NM_000548.5(TSC2):c.4677C>T (p.Leu1559=)
|
rs45517361
|
0.00001
|
NM_000548.5(TSC2):c.4689C>T (p.Ser1563=)
|
rs45517363
|
0.00001
|
NM_000548.5(TSC2):c.4692T>C (p.Asn1564=)
|
rs774664591
|
0.00001
|
NM_000548.5(TSC2):c.4704C>T (p.Ser1568=)
|
rs916198158
|
0.00001
|
NM_000548.5(TSC2):c.4707C>T (p.Tyr1569=)
|
rs397515277
|
0.00001
|
NM_000548.5(TSC2):c.4719G>A (p.Glu1573=)
|
rs766665967
|
0.00001
|
NM_000548.5(TSC2):c.4722C>T (p.Phe1574=)
|
rs565576095
|
0.00001
|
NM_000548.5(TSC2):c.4732C>T (p.Leu1578=)
|
rs917807471
|
0.00001
|
NM_000548.5(TSC2):c.4739G>A (p.Arg1580Gln)
|
rs1371745883
|
0.00001
|
NM_000548.5(TSC2):c.4766C>T (p.Pro1589Leu)
|
rs373635516
|
0.00001
|
NM_000548.5(TSC2):c.4810G>A (p.Gly1604Ser)
|
rs771289256
|
0.00001
|
NM_000548.5(TSC2):c.4849+18C>T
|
rs45517374
|
0.00001
|
NM_000548.5(TSC2):c.484G>A (p.Asp162Asn)
|
rs1257721773
|
0.00001
|
NM_000548.5(TSC2):c.4850-14C>G
|
rs397515189
|
0.00001
|
NM_000548.5(TSC2):c.4850-23C>T
|
rs397515086
|
0.00001
|
NM_000548.5(TSC2):c.4864G>A (p.Ala1622Thr)
|
rs769913589
|
0.00001
|
NM_000548.5(TSC2):c.486C>T (p.Asp162=)
|
rs45473598
|
0.00001
|
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met)
|
rs886051796
|
0.00001
|
NM_000548.5(TSC2):c.4914G>A (p.Lys1638=)
|
rs137854094
|
0.00001
|
NM_000548.5(TSC2):c.4915C>T (p.Arg1639Cys)
|
rs1555438551
|
0.00001
|
NM_000548.5(TSC2):c.4982C>T (p.Thr1661Ile)
|
rs776541842
|
0.00001
|
NM_000548.5(TSC2):c.4990-13C>T
|
rs1346991628
|
0.00001
|
NM_000548.5(TSC2):c.4990-3C>T
|
rs777928103
|
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.5021C>T (p.Thr1674Ile)
|
rs1555439727
|
0.00001
|
NM_000548.5(TSC2):c.5031C>T (p.Asp1677=)
|
rs878854113
|
0.00001
|
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=)
|
rs876658185
|
0.00001
|
NM_000548.5(TSC2):c.5038T>G (p.Cys1680Gly)
|
rs1555439802
|
0.00001
|
NM_000548.5(TSC2):c.5047G>C (p.Val1683Leu)
|
rs1596455392
|
0.00001
|
NM_000548.5(TSC2):c.5061C>T (p.Cys1687=)
|
rs779923426
|
0.00001
|
NM_000548.5(TSC2):c.5065A>G (p.Lys1689Glu)
|
rs137854315
|
0.00001
|
NM_000548.5(TSC2):c.5069-22C>T
|
rs137854338
|
0.00001
|
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr)
|
rs397515110
|
0.00001
|
NM_000548.5(TSC2):c.5097G>C (p.Val1699=)
|
rs397515314
|
0.00001
|
NM_000548.5(TSC2):c.5109G>A (p.Val1703=)
|
rs770413433
|
0.00001
|
NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr)
|
rs45474691
|
0.00001
|
NM_000548.5(TSC2):c.5118C>T (p.Arg1706=)
|
rs397515079
|
0.00001
|
NM_000548.5(TSC2):c.5120A>G (p.Asn1707Ser)
|
rs772439098
|
0.00001
|
NM_000548.5(TSC2):c.5133G>A (p.Val1711=)
|
rs1596457919
|
0.00001
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr)
|
rs201206500
|
0.00001
|
NM_000548.5(TSC2):c.5161-12C>G
|
rs1555440351
|
0.00001
|
NM_000548.5(TSC2):c.5161-6C>T
|
rs1475029652
|
0.00001
|
NM_000548.5(TSC2):c.5165C>T (p.Ala1722Val)
|
rs1373235682
|
0.00001
|
NM_000548.5(TSC2):c.5175G>A (p.Val1725=)
|
rs886038357
|
0.00001
|
NM_000548.5(TSC2):c.5184C>T (p.Ser1728=)
|
rs397514955
|
0.00001
|
NM_000548.5(TSC2):c.5196C>T (p.Pro1732=)
|
rs910514279
|
0.00001
|
NM_000548.5(TSC2):c.5209C>T (p.Pro1737Ser)
|
rs780112037
|
0.00001
|
NM_000548.5(TSC2):c.521C>T (p.Ser174Leu)
|
rs747538587
|
0.00001
|
NM_000548.5(TSC2):c.5232C>T (p.Leu1744=)
|
rs772865175
|
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.5259+15G>A
|
rs373209496
|
0.00001
|
NM_000548.5(TSC2):c.5260-14G>A
|
rs745529697
|
0.00001
|
NM_000548.5(TSC2):c.5276C>T (p.Ala1759Val)
|
rs45477298
|
0.00001
|
NM_000548.5(TSC2):c.5286C>T (p.Asn1762=)
|
rs757204634
|
0.00001
|
NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn)
|
rs138831802
|
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.5329C>T (p.Pro1777Ser)
|
rs781226141
|
0.00001
|
NM_000548.5(TSC2):c.532C>T (p.Leu178=)
|
rs1465941679
|
0.00001
|
NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr)
|
rs1245934608
|
0.00001
|
NM_000548.5(TSC2):c.5337G>A (p.Gln1779=)
|
rs768237144
|
0.00001
|
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg)
|
rs770117004
|
0.00001
|
NM_000548.5(TSC2):c.5363A>G (p.Tyr1788Cys)
|
rs397515221
|
0.00001
|
NM_000548.5(TSC2):c.5367G>A (p.Glu1789=)
|
rs966695764
|
0.00001
|
NM_000548.5(TSC2):c.5386C>T (p.Leu1796Phe)
|
rs45455398
|
0.00001
|
NM_000548.5(TSC2):c.5409C>T (p.Phe1803=)
|
rs770270816
|
0.00001
|
NM_000548.5(TSC2):c.5419G>A (p.Val1807Met)
|
rs45486402
|
0.00001
|
NM_000548.5(TSC2):c.5423G>A (p.Ter1808=)
|
rs762120606
|
0.00001
|
NM_000548.5(TSC2):c.558C>T (p.Phe186=)
|
rs775642056
|
0.00001
|
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser)
|
rs45505405
|
0.00001
|
NM_000548.5(TSC2):c.573C>T (p.Leu191=)
|
rs397515059
|
0.00001
|
NM_000548.5(TSC2):c.576C>T (p.Asp192=)
|
rs761704292
|
0.00001
|
NM_000548.5(TSC2):c.577G>A (p.Glu193Lys)
|
rs45517112
|
0.00001
|
NM_000548.5(TSC2):c.579G>A (p.Glu193=)
|
rs1192379518
|
0.00001
|
NM_000548.5(TSC2):c.582C>T (p.Tyr194=)
|
rs750174170
|
0.00001
|
NM_000548.5(TSC2):c.599+3A>G
|
rs397514899
|
0.00001
|
NM_000548.5(TSC2):c.600-13G>C
|
rs45517116
|
0.00001
|
NM_000548.5(TSC2):c.603G>C (p.Met201Ile)
|
rs45506197
|
0.00001
|
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp)
|
rs374410454
|
0.00001
|
NM_000548.5(TSC2):c.629C>T (p.Ala210Val)
|
rs764925296
|
0.00001
|
NM_000548.5(TSC2):c.642C>T (p.Asp214=)
|
rs763726222
|
0.00001
|
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)
|
rs45517118
|
0.00001
|
NM_000548.5(TSC2):c.655C>T (p.Leu219=)
|
rs369046625
|
0.00001
|
NM_000548.5(TSC2):c.686A>G (p.Asn229Ser)
|
rs1555498800
|
0.00001
|
NM_000548.5(TSC2):c.691C>T (p.Leu231=)
|
rs1555498820
|
0.00001
|
NM_000548.5(TSC2):c.695C>T (p.Pro232Leu)
|
rs760100924
|
0.00001
|
NM_000548.5(TSC2):c.696G>A (p.Pro232=)
|
rs539797467
|
0.00001
|
NM_000548.5(TSC2):c.704G>A (p.Ser235Asn)
|
rs397514957
|
0.00001
|
NM_000548.5(TSC2):c.711G>A (p.Pro237=)
|
rs189380607
|
0.00001
|
NM_000548.5(TSC2):c.713T>C (p.Leu238Pro)
|
rs768623382
|
0.00001
|
NM_000548.5(TSC2):c.720C>T (p.Ile240=)
|
rs45517123
|
0.00001
|
NM_000548.5(TSC2):c.72G>A (p.Pro24=)
|
rs754121475
|
0.00001
|
NM_000548.5(TSC2):c.733C>T (p.Arg245Cys)
|
rs375574283
|
0.00001
|
NM_000548.5(TSC2):c.739A>G (p.Ile247Val)
|
rs774526017
|
0.00001
|
NM_000548.5(TSC2):c.745G>A (p.Val249Ile)
|
rs750649974
|
0.00001
|
NM_000548.5(TSC2):c.768C>T (p.Cys256=)
|
rs45517127
|
0.00001
|
NM_000548.5(TSC2):c.774+4G>A
|
rs1244859914
|
0.00001
|
NM_000548.5(TSC2):c.775-14A>G
|
rs969379684
|
0.00001
|
NM_000548.5(TSC2):c.775-5C>T
|
rs181827303
|
0.00001
|
NM_000548.5(TSC2):c.782G>A (p.Arg261Gln)
|
rs45502703
|
0.00001
|
NM_000548.5(TSC2):c.807C>T (p.Gly269=)
|
rs1297815371
|
0.00001
|
NM_000548.5(TSC2):c.813C>T (p.Ser271=)
|
rs752676212
|
0.00001
|
NM_000548.5(TSC2):c.822C>T (p.Tyr274=)
|
rs1347972318
|
0.00001
|
NM_000548.5(TSC2):c.83C>A (p.Pro28His)
|
rs1057522105
|
0.00001
|
NM_000548.5(TSC2):c.849-13G>A
|
rs886051787
|
0.00001
|
NM_000548.5(TSC2):c.849-4T>C
|
rs752614339
|
0.00001
|
NM_000548.5(TSC2):c.849-8A>G
|
rs765336852
|
0.00001
|
NM_000548.5(TSC2):c.857T>C (p.Met286Thr)
|
rs45517136
|
0.00001
|
NM_000548.5(TSC2):c.864C>G (p.Asp288Glu)
|
rs780887572
|
0.00001
|
NM_000548.5(TSC2):c.867G>A (p.Ala289=)
|
rs375163125
|
0.00001
|
NM_000548.5(TSC2):c.871C>T (p.Leu291=)
|
rs45517137
|
0.00001
|
NM_000548.5(TSC2):c.879A>G (p.Arg293=)
|
rs369222477
|
0.00001
|
NM_000548.5(TSC2):c.885C>T (p.Ala295=)
|
rs778296481
|
0.00001
|
NM_000548.5(TSC2):c.900C>T (p.Gly300=)
|
rs1415187475
|
0.00001
|
NM_000548.5(TSC2):c.925C>T (p.Leu309Phe)
|
rs1258567486
|
0.00001
|
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu)
|
rs202082319
|
0.00001
|
NM_000548.5(TSC2):c.947C>A (p.Pro316Gln)
|
rs751490043
|
0.00001
|
NM_000548.5(TSC2):c.950C>T (p.Thr317Ile)
|
rs1596289105
|
0.00001
|
NM_000548.5(TSC2):c.951A>G (p.Thr317=)
|
rs767275578
|
0.00001
|
NM_000548.5(TSC2):c.976-10C>T
|
rs765990217
|
0.00001
|
NM_000548.5(TSC2):c.978C>G (p.Ala326=)
|
rs1294670888
|
0.00001
|
NM_000548.5(TSC2):c.990G>A (p.Pro330=)
|
rs752141469
|
0.00001
|
NM_000548.5(TSC2):c.997G>T (p.Val333Leu)
|
rs1336741146
|
0.00001
|
NC_000009.11:g.(135782758_135785957)_(135787845_135796749)del
|
|
|
NC_000016.10:g.2081596del
|
rs397515150
|
|
NC_000016.10:g.2086191AG[1]
|
rs137854118
|
|
NM_000368.4(TSC1):c.1030delG
|
rs118203486
|
|
NM_000368.4(TSC1):c.2096_2097ins28 (p.?)
|
|
|
NM_000368.4(TSC1):c.2626_2975del
|
|
|
NM_000368.4(TSC1):c.2626_3495del
|
|
|
NM_000368.5(TSC1):c.*1332C>T
|
rs397514841
|
|
NM_000368.5(TSC1):c.*1519C>T
|
rs886063608
|
|
NM_000368.5(TSC1):c.*1541dup
|
rs748099884
|
|
NM_000368.5(TSC1):c.*1612C>A
|
rs886063605
|
|
NM_000368.5(TSC1):c.*1969T>C
|
rs886063604
|
|
NM_000368.5(TSC1):c.*2022G>T
|
rs568052856
|
|
NM_000368.5(TSC1):c.*2213C>A
|
rs539030496
|
|
NM_000368.5(TSC1):c.*2228G>A
|
rs528833042
|
|
NM_000368.5(TSC1):c.*2230A>G
|
rs397514781
|
|
NM_000368.5(TSC1):c.*2364T>A
|
rs886063602
|
|
NM_000368.5(TSC1):c.*2439C>A
|
rs886063601
|
|
NM_000368.5(TSC1):c.*2475C>A
|
rs886063600
|
|
NM_000368.5(TSC1):c.*2615C>A
|
rs886063598
|
|
NM_000368.5(TSC1):c.*2632A>G
|
rs886063597
|
|
NM_000368.5(TSC1):c.*2641G>T
|
rs397514827
|
|
NM_000368.5(TSC1):c.*2644G>T
|
rs886063596
|
|
NM_000368.5(TSC1):c.*2658G>T
|
rs886063594
|
|
NM_000368.5(TSC1):c.*2679T>C
|
rs886063593
|
|
NM_000368.5(TSC1):c.*2691A>T
|
rs886063592
|
|
NM_000368.5(TSC1):c.*2893del
|
rs143549363
|
|
NM_000368.5(TSC1):c.*2893dup
|
rs143549363
|
|
NM_000368.5(TSC1):c.*2897A>G
|
rs886063589
|
|
NM_000368.5(TSC1):c.*289del
|
rs11323835
|
|
NM_000368.5(TSC1):c.*3047C>A
|
rs886063587
|
|
NM_000368.5(TSC1):c.*3239G>T
|
rs886063584
|
|
NM_000368.5(TSC1):c.*3240G>T
|
rs886063583
|
|
NM_000368.5(TSC1):c.*3248_*3250del
|
rs886063582
|
|
NM_000368.5(TSC1):c.*3258G>C
|
rs397514877
|
|
NM_000368.5(TSC1):c.*3260G>C
|
rs397514782
|
|
NM_000368.5(TSC1):c.*3284C>A
|
rs886063581
|
|
NM_000368.5(TSC1):c.*3285G>T
|
rs886063580
|
|
NM_000368.5(TSC1):c.*3330G>T
|
rs553475307
|
|
NM_000368.5(TSC1):c.*3531G>T
|
rs886063579
|
|
NM_000368.5(TSC1):c.*3543C>A
|
rs886063578
|
|
NM_000368.5(TSC1):c.*361C>T
|
rs397514844
|
|
NM_000368.5(TSC1):c.*3658G>A
|
rs886063577
|
|
NM_000368.5(TSC1):c.*3737C>A
|
rs886063576
|
|
NM_000368.5(TSC1):c.*3924G>T
|
rs886063575
|
|
NM_000368.5(TSC1):c.*3935C>T
|
rs397514787
|
|
NM_000368.5(TSC1):c.*3936C>T
|
rs397514853
|
|
NM_000368.5(TSC1):c.*3987A>G
|
rs886063574
|
|
NM_000368.5(TSC1):c.*4072G>A
|
rs886063573
|
|
NM_000368.5(TSC1):c.*4159G>T
|
rs886063571
|
|
NM_000368.5(TSC1):c.*4167C>A
|
rs886063570
|
|
NM_000368.5(TSC1):c.*4193A>C
|
rs886063569
|
|
NM_000368.5(TSC1):c.*4233G>T
|
rs886063568
|
|
NM_000368.5(TSC1):c.*4248C>A
|
rs886063567
|
|
NM_000368.5(TSC1):c.*4591G>T
|
rs397514821
|
|
NM_000368.5(TSC1):c.*4622G>A
|
rs886063564
|
|
NM_000368.5(TSC1):c.*4631del
|
rs60000611
|
|
NM_000368.5(TSC1):c.*4631dup
|
rs60000611
|
|
NM_000368.5(TSC1):c.*548C>A
|
rs886063616
|
|
NM_000368.5(TSC1):c.*583C>A
|
rs886063615
|
|
NM_000368.5(TSC1):c.*817G>T
|
rs886063614
|
|
NM_000368.5(TSC1):c.*859G>T
|
rs886063612
|
|
NM_000368.5(TSC1):c.*920C>A
|
rs886063611
|
|
NM_000368.5(TSC1):c.-174A>T
|
rs886063627
|
|
NM_000368.5(TSC1):c.-80-10T>C
|
rs886063625
|
|
NM_000368.5(TSC1):c.-80-51del
|
rs1227429293
|
|
NM_000368.5(TSC1):c.-8G>A
|
rs1847042861
|
|
NM_000368.5(TSC1):c.1001C>A (p.Ser334Ter)
|
rs118203481
|
|
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile)
|
rs1845955010
|
|
NM_000368.5(TSC1):c.1005A>G (p.Thr335=)
|
rs753091213
|
|
NM_000368.5(TSC1):c.1007_1016del (p.Arg336fs)
|
rs397514849
|
|
NM_000368.5(TSC1):c.1012A>G (p.Ile338Val)
|
rs2131974315
|
|
NM_000368.5(TSC1):c.101A>T (p.Asn34Ile)
|
rs980870206
|
|
NM_000368.5(TSC1):c.1020del (p.Glu340fs)
|
rs118203484
|
|
NM_000368.5(TSC1):c.1022CAC[1] (p.Pro342del)
|
rs2131972961
|
|
NM_000368.5(TSC1):c.1029+1G>A
|
rs118203485
|
|
NM_000368.5(TSC1):c.1029+3_1029+4del
|
|
|
NM_000368.5(TSC1):c.1029+4T>C
|
rs772962741
|
|
NM_000368.5(TSC1):c.1030-14T>C
|
rs180810228
|
|
NM_000368.5(TSC1):c.1030-14del
|
rs1159170023
|
|
NM_000368.5(TSC1):c.1030-1G>A
|
rs118203489
|
|
NM_000368.5(TSC1):c.1030-3C>G
|
rs118203488
|
|
NM_000368.5(TSC1):c.1030-3C>T
|
rs118203488
|
|
NM_000368.5(TSC1):c.1030-5C>G
|
rs1588323218
|
|
NM_000368.5(TSC1):c.1030-9A>G
|
rs118203487
|
|
NM_000368.5(TSC1):c.1040G>A (p.Trp347Ter)
|
rs118203490
|
|
NM_000368.5(TSC1):c.1044C>A (p.Ser348Arg)
|
rs2131964122
|
|
NM_000368.5(TSC1):c.1046C>T (p.Pro349Leu)
|
rs1554817268
|
|
NM_000368.5(TSC1):c.1048T>C (p.Ser350Pro)
|
rs2131963767
|
|
NM_000368.5(TSC1):c.106+47A>C
|
rs373390352
|
|
NM_000368.5(TSC1):c.1063A>G (p.Met355Val)
|
rs1302832406
|
|
NM_000368.5(TSC1):c.107-2A>G
|
rs118203332
|
|
NM_000368.5(TSC1):c.1072C>A (p.Pro358Thr)
|
rs1845931311
|
|
NM_000368.5(TSC1):c.1079C>G (p.Thr360Ser)
|
rs118203493
|
|
NM_000368.5(TSC1):c.107A>G (p.Asp36Gly)
|
rs148468036
|
|
NM_000368.5(TSC1):c.108C>T (p.Asp36=)
|
rs886063624
|
|
NM_000368.5(TSC1):c.1096_1109del (p.Pro366fs)
|
rs118203494
|
|
NM_000368.5(TSC1):c.109dup (p.Arg37fs)
|
rs118203333
|
|
NM_000368.5(TSC1):c.1101_1114del (p.Asp368fs)
|
rs118203495
|
|
NM_000368.5(TSC1):c.1105C>T (p.Leu369=)
|
rs118203496
|
|
NM_000368.5(TSC1):c.1110A>C (p.Ser370=)
|
rs371648887
|
|
NM_000368.5(TSC1):c.1110dup (p.His371fs)
|
rs118203497
|
|
NM_000368.5(TSC1):c.1112_1113dup (p.Pro372fs)
|
rs118203498
|
|
NM_000368.5(TSC1):c.1113C>A (p.His371Gln)
|
rs771217333
|
|
NM_000368.5(TSC1):c.1118dup (p.Tyr373Ter)
|
rs118203499
|
|
NM_000368.5(TSC1):c.1141+1G>T
|
rs397514819
|
|
NM_000368.5(TSC1):c.1142-11T>A
|
rs1845908527
|
|
NM_000368.5(TSC1):c.1152del (p.Gly385fs)
|
rs118203501
|
|
NM_000368.5(TSC1):c.1163T>G (p.Leu388Arg)
|
rs377598226
|
|
NM_000368.5(TSC1):c.1166del (p.Gly389fs)
|
rs397514832
|
|
NM_000368.5(TSC1):c.1167A>G (p.Gly389=)
|
rs876660723
|
|
NM_000368.5(TSC1):c.1182TCC[6] (p.Pro395_Pro397dup)
|
rs1845904104
|
|
NM_000368.5(TSC1):c.1187C>T (p.Pro396Leu)
|
|
|
NM_000368.5(TSC1):c.1194C>G (p.Ala398=)
|
rs1060504861
|
|
NM_000368.5(TSC1):c.1196_1209del (p.Pro399fs)
|
rs118203502
|
|
NM_000368.5(TSC1):c.1203del (p.His402fs)
|
rs118203503
|
|
NM_000368.5(TSC1):c.1206T>A (p.His402Gln)
|
rs1845902050
|
|
NM_000368.5(TSC1):c.1211A>T (p.Asp404Val)
|
rs1554817130
|
|
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)
|
rs118203334
|
|
NM_000368.5(TSC1):c.1225A>G (p.Ile409Val)
|
rs2131940667
|
|
NM_000368.5(TSC1):c.1225A>T (p.Ile409Phe)
|
rs2131940667
|
|
NM_000368.5(TSC1):c.1234C>A (p.Pro412Thr)
|
rs2131939930
|
|
NM_000368.5(TSC1):c.1249del (p.Thr417fs)
|
rs397514792
|
|
NM_000368.5(TSC1):c.1250del (p.Thr417fs)
|
rs397514778
|
|
NM_000368.5(TSC1):c.1256C>A (p.Pro419His)
|
rs878853959
|
|
NM_000368.5(TSC1):c.1256C>T (p.Pro419Leu)
|
rs878853959
|
|
NM_000368.5(TSC1):c.1257C>A (p.Pro419=)
|
rs369642207
|
|
NM_000368.5(TSC1):c.1257del (p.Arg420fs)
|
rs118203506
|
|
NM_000368.5(TSC1):c.1257dup (p.Arg420fs)
|
rs118203506
|
|
NM_000368.5(TSC1):c.1264-12T>G
|
rs118203508
|
|
NM_000368.5(TSC1):c.1264-1G>C
|
rs1554816432
|
|
NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs)
|
rs118203509
|
|
NM_000368.5(TSC1):c.1279del (p.Ser427fs)
|
rs118203510
|
|
NM_000368.5(TSC1):c.1296A>C (p.Leu432=)
|
rs1554816406
|
|
NM_000368.5(TSC1):c.12A>G (p.Gln4=)
|
rs1588363707
|
|
NM_000368.5(TSC1):c.1303C>T (p.Gln435Ter)
|
rs118203511
|
|
NM_000368.5(TSC1):c.1304A>G (p.Gln435Arg)
|
rs2131880323
|
|
NM_000368.5(TSC1):c.1309C>G (p.His437Asp)
|
rs985183299
|
|
NM_000368.5(TSC1):c.1309C>T (p.His437Tyr)
|
rs985183299
|
|
NM_000368.5(TSC1):c.130A>T (p.Thr44Ser)
|
rs1399266964
|
|
NM_000368.5(TSC1):c.130dup (p.Thr44fs)
|
rs118203336
|
|
NM_000368.5(TSC1):c.131_132dup (p.Leu45fs)
|
rs118203337
|
|
NM_000368.5(TSC1):c.1331C>A (p.Ser444Ter)
|
rs118203512
|
|
NM_000368.5(TSC1):c.1331C>G (p.Ser444Ter)
|
rs118203512
|
|
NM_000368.5(TSC1):c.1331C>T (p.Ser444Leu)
|
|
|
NM_000368.5(TSC1):c.1332A>C (p.Ser444=)
|
rs773003016
|
|
NM_000368.5(TSC1):c.1333+1dup
|
rs118203514
|
|
NM_000368.5(TSC1):c.1338del (p.Glu446fs)
|
rs118203517
|
|
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala)
|
rs1588313030
|
|
NM_000368.5(TSC1):c.133T>G (p.Leu45Val)
|
rs755226092
|
|
NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu)
|
rs772868048
|
|
NM_000368.5(TSC1):c.1343C>T (p.Pro448Leu)
|
rs397514848
|
|
NM_000368.5(TSC1):c.1350C>T (p.Ser450=)
|
rs773780814
|
|
NM_000368.5(TSC1):c.135G>T (p.Leu45Phe)
|
rs149278759
|
|
NM_000368.5(TSC1):c.1361_1398del (p.Val454fs)
|
rs118203520
|
|
NM_000368.5(TSC1):c.1364del (p.Thr455fs)
|
rs118203521
|
|
NM_000368.5(TSC1):c.1366_1367del (p.Leu456fs)
|
rs397514798
|
|
NM_000368.5(TSC1):c.1366_1367insGA (p.Leu456fs)
|
rs118203522
|
|
NM_000368.5(TSC1):c.1368A>C (p.Leu456=)
|
rs397514856
|
|
NM_000368.5(TSC1):c.1368A>G (p.Leu456=)
|
rs397514856
|
|
NM_000368.5(TSC1):c.1369del (p.Ser457fs)
|
rs118203523
|
|
NM_000368.5(TSC1):c.1371T>C (p.Ser457=)
|
rs118203524
|
|
NM_000368.5(TSC1):c.1379del (p.Pro460fs)
|
rs118203525
|
|
NM_000368.5(TSC1):c.138G>A (p.Val46=)
|
rs2132269285
|
|
NM_000368.5(TSC1):c.1411_1412insT (p.Asp471fs)
|
rs118203526
|
|
NM_000368.5(TSC1):c.1412del (p.Asp471fs)
|
rs2131863156
|
|
NM_000368.5(TSC1):c.1416T>C (p.Ser472=)
|
rs2131862866
|
|
NM_000368.5(TSC1):c.1424A>G (p.Lys475Arg)
|
rs2131862407
|
|
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr)
|
rs1554816213
|
|
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)
|
rs118203527
|
|
NM_000368.5(TSC1):c.1431dup (p.Glu478fs)
|
rs397514858
|
|
NM_000368.5(TSC1):c.1432_1433dup (p.Glu479fs)
|
rs118203528
|
|
NM_000368.5(TSC1):c.1433A>G (p.Glu478Gly)
|
rs118203529
|
|
NM_000368.5(TSC1):c.1439-15C>G
|
rs763538221
|
|
NM_000368.5(TSC1):c.1439-1G>A
|
rs397514804
|
|
NM_000368.5(TSC1):c.1439-20_1439-9del
|
rs1064792996
|
|
NM_000368.5(TSC1):c.1439-2A>G
|
rs118203531
|
|
NM_000368.5(TSC1):c.1439-2A>T
|
rs118203531
|
|
NM_000368.5(TSC1):c.1439-7C>A
|
rs1588311354
|
|
NM_000368.5(TSC1):c.1444A>G (p.Ile482Val)
|
rs2131850800
|
|
NM_000368.5(TSC1):c.1452del (p.Glu485fs)
|
rs397514797
|
|
NM_000368.5(TSC1):c.145del (p.Tyr49fs)
|
rs118203339
|
|
NM_000368.5(TSC1):c.1462G>T (p.Glu488Ter)
|
rs118203533
|
|
NM_000368.5(TSC1):c.1467CAC[1] (p.Thr491del)
|
rs1554816071
|
|
NM_000368.5(TSC1):c.1469C>T (p.Thr490Ile)
|
rs1564482593
|
|
NM_000368.5(TSC1):c.146del (p.Tyr49fs)
|
rs397514861
|
|
NM_000368.5(TSC1):c.1470del (p.Thr491fs)
|
rs118203534
|
|
NM_000368.5(TSC1):c.1481dup (p.Glu495fs)
|
rs118203535
|
|
NM_000368.5(TSC1):c.1482A>G (p.Ala494=)
|
rs2131848062
|
|
NM_000368.5(TSC1):c.1483G>A (p.Glu495Lys)
|
rs1845656110
|
|
NM_000368.5(TSC1):c.1489G>A (p.Val497Met)
|
rs946491568
|
|
NM_000368.5(TSC1):c.148del (p.Leu50fs)
|
rs118203340
|
|
NM_000368.5(TSC1):c.1490_1491del (p.Val497fs)
|
rs118203536
|
|
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)
|
rs118203537
|
|
NM_000368.5(TSC1):c.1499G>A (p.Arg500Gln)
|
rs118203538
|
|
NM_000368.5(TSC1):c.149T>C (p.Leu50Pro)
|
rs118203341
|
|
NM_000368.5(TSC1):c.1501G>T (p.Gly501Ter)
|
rs118203539
|
|
NM_000368.5(TSC1):c.1503del (p.Gly502fs)
|
rs397514876
|
|
NM_000368.5(TSC1):c.1515_1516dup (p.Pro506fs)
|
rs281875358
|
|
NM_000368.5(TSC1):c.1515dup (p.Pro506fs)
|
rs118203540
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.1530_1531del (p.Asp510fs)
|
rs118203544
|
|
NM_000368.5(TSC1):c.1533T>C (p.Ser511=)
|
rs1588310849
|
|
NM_000368.5(TSC1):c.1533del (p.Leu512fs)
|
rs118203545
|
|
NM_000368.5(TSC1):c.1535_1536del (p.Leu512fs)
|
rs397514823
|
|
NM_000368.5(TSC1):c.1542_1543insG (p.Ser515fs)
|
rs118203546
|
|
NM_000368.5(TSC1):c.1549C>A (p.Arg517=)
|
rs1243886871
|
|
NM_000368.5(TSC1):c.1559del (p.His520fs)
|
rs118203547
|
|
NM_000368.5(TSC1):c.1572C>G (p.Ser524=)
|
rs397514810
|
|
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)
|
rs118203549
|
|
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs)
|
rs118203550
|
|
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del)
|
rs766376606
|
|
NM_000368.5(TSC1):c.158G>C (p.Ser53Thr)
|
rs1588359592
|
|
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr)
|
rs765149885
|
|
NM_000368.5(TSC1):c.1607T>C (p.Leu536Ser)
|
rs776633158
|
|
NM_000368.5(TSC1):c.1615del (p.Ser539fs)
|
rs118203551
|
|
NM_000368.5(TSC1):c.1631_1647del (p.Gly544fs)
|
rs118203552
|
|
NM_000368.5(TSC1):c.163C>T (p.Gln55Ter)
|
rs118203343
|
|
NM_000368.5(TSC1):c.1647G>A (p.Lys549=)
|
rs2131835538
|
|
NM_000368.5(TSC1):c.1662del (p.Pro554_Ile555insTer)
|
rs118203554
|
|
NM_000368.5(TSC1):c.1664del (p.Ile555fs)
|
rs397514829
|
|
NM_000368.5(TSC1):c.1669C>T (p.Leu557=)
|
rs118203555
|
|
NM_000368.5(TSC1):c.1669del (p.Leu557fs)
|
rs118203556
|
|
NM_000368.5(TSC1):c.1672C>T (p.Pro558Ser)
|
rs1554815946
|
|
NM_000368.5(TSC1):c.1676dup (p.Cys559fs)
|
rs118203558
|
|
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs)
|
rs118203557
|
|
NM_000368.5(TSC1):c.1680_1702dup (p.Gly568fs)
|
rs118203557
|
|
NM_000368.5(TSC1):c.1683_1705dup (p.Asp569fs)
|
rs118203560
|
|
NM_000368.5(TSC1):c.1687del (p.Asp563fs)
|
rs118203561
|
|
NM_000368.5(TSC1):c.1692_1693del (p.Ser565fs)
|
rs118203562
|
|
NM_000368.5(TSC1):c.1697del (p.Pro566fs)
|
rs118203563
|
|
NM_000368.5(TSC1):c.1698_1704delinsGC (p.Ala567fs)
|
rs1554815914
|
|
NM_000368.5(TSC1):c.1703dup (p.Asp569fs)
|
rs397514777
|
|
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs)
|
rs118203564
|
|
NM_000368.5(TSC1):c.170C>T (p.Ala57Val)
|
rs1846920951
|
|
NM_000368.5(TSC1):c.1713A>G (p.Glu571=)
|
rs1588309781
|
|
NM_000368.5(TSC1):c.1717C>T (p.Gln573Ter)
|
rs118203565
|
|
NM_000368.5(TSC1):c.171A>G (p.Ala57=)
|
rs1060504853
|
|
NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala)
|
rs1454859974
|
|
NM_000368.5(TSC1):c.1724C>T (p.Ser575Phe)
|
rs118203566
|
|
NM_000368.5(TSC1):c.1727_1742del (p.Leu576fs)
|
rs118203568
|
|
NM_000368.5(TSC1):c.1729G>A (p.Glu577Lys)
|
rs118203570
|
|
NM_000368.5(TSC1):c.1729G>T (p.Glu577Ter)
|
rs118203570
|
|
NM_000368.5(TSC1):c.1731G>C (p.Glu577Asp)
|
rs118203571
|
|
NM_000368.5(TSC1):c.1733C>T (p.Thr578Ile)
|
rs1588309612
|
|
NM_000368.5(TSC1):c.1736del (p.Ser579fs)
|
rs118203572
|
|
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile)
|
rs886063623
|
|
NM_000368.5(TSC1):c.1746dup (p.Pro583fs)
|
rs118203573
|
|
NM_000368.5(TSC1):c.1749_1750del (p.Pro585fs)
|
rs118203574
|
|
NM_000368.5(TSC1):c.1757_1765del (p.Cys586_Pro589delinsSer)
|
rs118203575
|
|
NM_000368.5(TSC1):c.1757_1768delinsCA (p.Cys586fs)
|
rs397514857
|
|
NM_000368.5(TSC1):c.1759A>T (p.Lys587Ter)
|
rs397514846
|
|
NM_000368.5(TSC1):c.1761A>G (p.Lys587=)
|
rs118203577
|
|
NM_000368.5(TSC1):c.1766del (p.Pro589fs)
|
rs397514811
|
|
NM_000368.5(TSC1):c.1767A>G (p.Pro589=)
|
rs118203578
|
|
NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser)
|
rs1429666367
|
|
NM_000368.5(TSC1):c.1773_1774dup (p.Thr592fs)
|
rs118203579
|
|
NM_000368.5(TSC1):c.1776G>T (p.Thr592=)
|
rs118203580
|
|
NM_000368.5(TSC1):c.1777A>T (p.Arg593Ter)
|
rs118203581
|
|
NM_000368.5(TSC1):c.1788del (p.Phe596fs)
|
rs118203582
|
|
NM_000368.5(TSC1):c.1791_1792dup (p.Ser598fs)
|
rs118203583
|
|
NM_000368.5(TSC1):c.1792dup (p.Ser598fs)
|
rs118203583
|
|
NM_000368.5(TSC1):c.1803T>A (p.Pro601=)
|
rs2131822473
|
|
NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu)
|
rs1588309097
|
|
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg)
|
rs751247705
|
|
NM_000368.5(TSC1):c.1809G>C (p.Pro603=)
|
rs112434645
|
|
NM_000368.5(TSC1):c.181_189del (p.Thr62_Leu64del)
|
rs118203344
|
|
NM_000368.5(TSC1):c.1823_1824del (p.Leu607_Phe608insTer)
|
rs118203585
|
|
NM_000368.5(TSC1):c.1823_1824dup (p.Glu609fs)
|
rs118203585
|
|
NM_000368.5(TSC1):c.1825G>T (p.Glu609Ter)
|
rs118203587
|
|
NM_000368.5(TSC1):c.182T>C (p.Leu61Pro)
|
rs118203345
|
|
NM_000368.5(TSC1):c.182T>G (p.Leu61Arg)
|
rs118203345
|
|
NM_000368.5(TSC1):c.1830G>T (p.Val610=)
|
rs2131820356
|
|
NM_000368.5(TSC1):c.1839A>G (p.Pro613=)
|
rs118203588
|
|
NM_000368.5(TSC1):c.1841del (p.Lys614fs)
|
rs118203589
|
|
NM_000368.5(TSC1):c.1844C>T (p.Thr615Ile)
|
rs1588308884
|
|
NM_000368.5(TSC1):c.1849C>G (p.His617Asp)
|
rs397514854
|
|
NM_000368.5(TSC1):c.1851T>C (p.His617=)
|
rs2131818787
|
|
NM_000368.5(TSC1):c.1851del (p.His618fs)
|
rs118203590
|
|
NM_000368.5(TSC1):c.1857del (p.Phe619fs)
|
rs118203591
|
|
NM_000368.5(TSC1):c.185C>T (p.Thr62Ile)
|
rs1846917604
|
|
NM_000368.5(TSC1):c.1874A>G (p.Glu625Gly)
|
rs886038287
|
|
NM_000368.5(TSC1):c.1876G>T (p.Glu626Ter)
|
rs397514815
|
|
NM_000368.5(TSC1):c.1879C>T (p.Leu627=)
|
rs1171110012
|
|
NM_000368.5(TSC1):c.1883T>A (p.Leu628Ter)
|
rs118203592
|
|
NM_000368.5(TSC1):c.1883T>G (p.Leu628Ter)
|
rs118203592
|
|
NM_000368.5(TSC1):c.1884_1905del (p.Lys629fs)
|
rs397514796
|
|
NM_000368.5(TSC1):c.1886del (p.Lys629fs)
|
rs118203594
|
|
NM_000368.5(TSC1):c.1888A>G (p.Lys630Glu)
|
rs1158059433
|
|
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
|
rs118203595
|
|
NM_000368.5(TSC1):c.1890dup (p.Ala631fs)
|
rs118203596
|
|
NM_000368.5(TSC1):c.1904C>T (p.Thr635Ile)
|
|
|
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)
|
rs118203597
|
|
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs)
|
rs118203599
|
|
NM_000368.5(TSC1):c.1911del (p.Asp638fs)
|
rs397514801
|
|
NM_000368.5(TSC1):c.1913A>T (p.Asp638Val)
|
|
|
NM_000368.5(TSC1):c.191_199del (p.Leu64_Pro67delinsSer)
|
rs118203346
|
|
NM_000368.5(TSC1):c.1922C>T (p.Pro641Leu)
|
rs397514863
|
|
NM_000368.5(TSC1):c.1925C>T (p.Ser642Phe)
|
rs1845610761
|
|
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr)
|
rs1588308288
|
|
NM_000368.5(TSC1):c.1942del (p.Val648fs)
|
rs118203600
|
|
NM_000368.5(TSC1):c.1948G>A (p.Asp650Asn)
|
rs2131810664
|
|
NM_000368.5(TSC1):c.1955_1956del (p.Leu652fs)
|
rs118203601
|
|
NM_000368.5(TSC1):c.1959dup (p.Gln654fs)
|
rs118203603
|
|
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)
|
rs75820036
|
|
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter)
|
rs118203606
|
|
NM_000368.5(TSC1):c.1964del (p.Gln655fs)
|
rs397514793
|
|
NM_000368.5(TSC1):c.1967G>C (p.Gly656Ala)
|
rs1554815701
|
|
NM_000368.5(TSC1):c.1968A>C (p.Gly656=)
|
rs118203607
|
|
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu)
|
rs118203608
|
|
NM_000368.5(TSC1):c.1997+17C>G
|
rs397514860
|
|
NM_000368.5(TSC1):c.1997+1G>A
|
rs118203610
|
|
NM_000368.5(TSC1):c.1997+1G>C
|
rs118203610
|
|
NM_000368.5(TSC1):c.1997+2T>C
|
rs2131806725
|
|
NM_000368.5(TSC1):c.1997+6_1997+7del
|
rs2538697117
|
|
NM_000368.5(TSC1):c.1998-1G>A
|
rs118203614
|
|
NM_000368.5(TSC1):c.1998-1G>C
|
rs118203614
|
|
NM_000368.5(TSC1):c.1998-2A>G
|
rs1057518217
|
|
NM_000368.5(TSC1):c.1998-54C>T
|
rs118203613
|
|
NM_000368.5(TSC1):c.1998-7T>G
|
rs1845549017
|
|
NM_000368.5(TSC1):c.1998-8C>G
|
rs1845549145
|
|
NM_000368.5(TSC1):c.1998-9T>C
|
rs773667263
|
|
NM_000368.5(TSC1):c.1998G>A (p.Lys666=)
|
rs118203616
|
|
NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter)
|
rs118203617
|
|
NM_000368.5(TSC1):c.2008C>A (p.Pro670Thr)
|
rs2131788403
|
|
NM_000368.5(TSC1):c.200C>T (p.Pro67Leu)
|
|
|
NM_000368.5(TSC1):c.2020G>A (p.Val674Ile)
|
rs1845544758
|
|
NM_000368.5(TSC1):c.2022C>T (p.Val674=)
|
rs118203618
|
|
NM_000368.5(TSC1):c.2022del (p.Asp675fs)
|
rs118203619
|
|
NM_000368.5(TSC1):c.2023G>A (p.Asp675Asn)
|
rs768189353
|
|
NM_000368.5(TSC1):c.2023G>T (p.Asp675Tyr)
|
rs768189353
|
|
NM_000368.5(TSC1):c.2023del (p.Asp675fs)
|
rs118203620
|
|
NM_000368.5(TSC1):c.2028G>A (p.Trp676Ter)
|
rs118203621
|
|
NM_000368.5(TSC1):c.2030_2040del (p.Thr677fs)
|
rs118203622
|
|
NM_000368.5(TSC1):c.2031C>A (p.Thr677=)
|
rs1060504855
|
|
NM_000368.5(TSC1):c.2033_2041+14del
|
rs397514817
|
|
NM_000368.5(TSC1):c.2041+1G>A
|
rs397514842
|
|
NM_000368.5(TSC1):c.2041+2T>A
|
rs118203625
|
|
NM_000368.5(TSC1):c.2041+2T>C
|
rs118203625
|
|
NM_000368.5(TSC1):c.2041+5del
|
rs1564479424
|
|
NM_000368.5(TSC1):c.2041G>A (p.Gly681Ser)
|
rs118203624
|
|
NM_000368.5(TSC1):c.2042-2A>G
|
rs118203628
|
|
NM_000368.5(TSC1):c.2042-5A>G
|
rs118203627
|
|
NM_000368.5(TSC1):c.2045C>G (p.Ser682Cys)
|
rs919177189
|
|
NM_000368.5(TSC1):c.2046_2047del (p.Pro683fs)
|
rs397514869
|
|
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del)
|
rs397514799
|
|
NM_000368.5(TSC1):c.2054C>A (p.Ser685Ter)
|
rs118203629
|
|
NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly)
|
rs786201465
|
|
NM_000368.5(TSC1):c.2069_2074delinsACACTT (p.Thr690_Arg692delinsAsnThrTer)
|
rs118203630
|
|
NM_000368.5(TSC1):c.206A>G (p.Asp69Gly)
|
rs1846914861
|
|
NM_000368.5(TSC1):c.2070_2097dup (p.Asn700fs)
|
rs1554815323
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.2079C>T (p.Asp693=)
|
rs2131771893
|
|
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter)
|
rs397514789
|
|
NM_000368.5(TSC1):c.2082del (p.Gln694fs)
|
rs118203632
|
|
NM_000368.5(TSC1):c.2090del (p.Leu697fs)
|
rs118203633
|
|
NM_000368.5(TSC1):c.2093T>G (p.Leu698Arg)
|
rs397514802
|
|
NM_000368.5(TSC1):c.2094del (p.His699fs)
|
rs118203634
|
|
NM_000368.5(TSC1):c.2097dup (p.Asn700fs)
|
rs118203635
|
|
NM_000368.5(TSC1):c.210+1G>A
|
rs118203348
|
|
NM_000368.5(TSC1):c.2101_2102del (p.Gln701fs)
|
rs118203637
|
|
NM_000368.5(TSC1):c.2101_2107del (p.Gln701fs)
|
rs397514791
|
|
NM_000368.5(TSC1):c.2101del (p.Gln701fs)
|
rs118203636
|
|
NM_000368.5(TSC1):c.2103G>T (p.Gln701His)
|
rs118203639
|
|
NM_000368.5(TSC1):c.2103_2106del (p.Gln701fs)
|
rs118203638
|
|
NM_000368.5(TSC1):c.2103_2106dup (p.Leu703fs)
|
rs118203638
|
|
NM_000368.5(TSC1):c.2103_2109dup (p.Tyr704fs)
|
rs118203641
|
|
NM_000368.5(TSC1):c.2106_2107insGTTTA (p.Leu703fs)
|
rs118203642
|
|
NM_000368.5(TSC1):c.2106delinsGT (p.Leu703fs)
|
rs397514838
|
|
NM_000368.5(TSC1):c.2109_2110del (p.Leu703_Tyr704insTer)
|
rs118203643
|
|
NM_000368.5(TSC1):c.211-11dup
|
rs397514775
|
|
NM_000368.5(TSC1):c.211-16T>C
|
rs118203351
|
|
NM_000368.5(TSC1):c.211-1G>A
|
rs118203353
|
|
NM_000368.5(TSC1):c.211-1G>T
|
rs118203353
|
|
NM_000368.5(TSC1):c.211-2A>C
|
rs118203352
|
|
NM_000368.5(TSC1):c.2110dup (p.Tyr704fs)
|
rs118203644
|
|
NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys)
|
rs752054698
|
|
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer)
|
rs118203645
|
|
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter)
|
rs118203646
|
|
NM_000368.5(TSC1):c.2119T>C (p.Phe707Leu)
|
rs1845501093
|
|
NM_000368.5(TSC1):c.2128C>T (p.Gln710Ter)
|
rs397514874
|
|
NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter)
|
rs118203647
|
|
NM_000368.5(TSC1):c.2135_2139del (p.His712fs)
|
rs118203648
|
|
NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp)
|
rs1564478519
|
|
NM_000368.5(TSC1):c.2145del (p.Asn716fs)
|
rs118203650
|
|
NM_000368.5(TSC1):c.2146_2153dup (p.Leu719fs)
|
rs397514803
|
|
NM_000368.5(TSC1):c.214C>T (p.Leu72Phe)
|
rs759183842
|
|
NM_000368.5(TSC1):c.2151dup (p.Arg718fs)
|
rs118203651
|
|
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln)
|
rs1060503207
|
|
NM_000368.5(TSC1):c.215T>C (p.Leu72Pro)
|
rs118203354
|
|
NM_000368.5(TSC1):c.2161C>G (p.Arg721Gly)
|
rs763357144
|
|
NM_000368.5(TSC1):c.2162G>A (p.Arg721His)
|
rs769566267
|
|
NM_000368.5(TSC1):c.2162G>C (p.Arg721Pro)
|
rs769566267
|
|
NM_000368.5(TSC1):c.2164A>T (p.Lys722Ter)
|
rs397514772
|
|
NM_000368.5(TSC1):c.2166G>T (p.Lys722Asn)
|
rs2538648261
|
|
NM_000368.5(TSC1):c.2169del (p.Ile724fs)
|
rs118203652
|
|
NM_000368.5(TSC1):c.2173_2176del (p.Lys725fs)
|
rs118203653
|
|
NM_000368.5(TSC1):c.2175dup (p.Ala726fs)
|
rs118203654
|
|
NM_000368.5(TSC1):c.2177C>A (p.Ala726Glu)
|
rs118203655
|
|
NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter)
|
rs397514820
|
|
NM_000368.5(TSC1):c.2191del (p.Glu731fs)
|
rs118203656
|
|
NM_000368.5(TSC1):c.21C>G (p.Val7=)
|
rs145987906
|
|
NM_000368.5(TSC1):c.21C>T (p.Val7=)
|
rs145987906
|
|
NM_000368.5(TSC1):c.2208+2T>A
|
rs1064794132
|
|
NM_000368.5(TSC1):c.2209-35A>G
|
rs118203659
|
|
NM_000368.5(TSC1):c.2209-9C>T
|
rs118203660
|
|
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)
|
rs118203661
|
|
NM_000368.5(TSC1):c.2233A>G (p.Lys745Glu)
|
rs2131740608
|
|
NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr)
|
rs786203007
|
|
NM_000368.5(TSC1):c.2240T>C (p.Ile747Thr)
|
rs1392095786
|
|
NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter)
|
rs118203662
|
|
NM_000368.5(TSC1):c.2250G>A (p.Trp750Ter)
|
rs118203663
|
|
NM_000368.5(TSC1):c.2251A>C (p.Lys751Gln)
|
rs1845453569
|
|
NM_000368.5(TSC1):c.2259T>C (p.Ser753=)
|
|
|
NM_000368.5(TSC1):c.2260C>T (p.Leu754=)
|
rs118203664
|
|
NM_000368.5(TSC1):c.2268_2271del (p.Lys756fs)
|
rs118203665
|
|
NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys)
|
rs397514783
|
|
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter)
|
rs397514783
|
|
NM_000368.5(TSC1):c.227T>A (p.Ile76Asn)
|
rs118203355
|
|
NM_000368.5(TSC1):c.2280_2295del (p.Tyr761fs)
|
rs118203666
|
|
NM_000368.5(TSC1):c.2281_2284dup (p.Asn762fs)
|
rs118203667
|
|
NM_000368.5(TSC1):c.2282A>G (p.Tyr761Cys)
|
rs1554815018
|
|
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter)
|
rs118203668
|
|
NM_000368.5(TSC1):c.2283C>G (p.Tyr761Ter)
|
rs118203668
|
|
NM_000368.5(TSC1):c.2286T>C (p.Asn762=)
|
rs1554815010
|
|
NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter)
|
rs118203671
|
|
NM_000368.5(TSC1):c.2291del (p.Leu764fs)
|
rs118203672
|
|
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter)
|
rs118203673
|
|
NM_000368.5(TSC1):c.2298_2320del (p.Gln767fs)
|
rs118203674
|
|
NM_000368.5(TSC1):c.2299C>T (p.Gln767Ter)
|
rs118203675
|
|
NM_000368.5(TSC1):c.2317del (p.Thr773fs)
|
rs118203676
|
|
NM_000368.5(TSC1):c.2319del (p.Lys774fs)
|
rs118203677
|
|
NM_000368.5(TSC1):c.2324T>A (p.Leu775His)
|
|
|
NM_000368.5(TSC1):c.2326C>A (p.His776Asn)
|
rs2131732766
|
|
NM_000368.5(TSC1):c.2328_2329del (p.His776fs)
|
rs118203678
|
|
NM_000368.5(TSC1):c.2329del (p.Ser777fs)
|
rs397514780
|
|
NM_000368.5(TSC1):c.232G>A (p.Glu78Lys)
|
|
|
NM_000368.5(TSC1):c.2332C>T (p.Gln778Ter)
|
rs118203679
|
|
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter)
|
rs118203680
|
|
NM_000368.5(TSC1):c.2342_2343insAA (p.Leu782fs)
|
rs397514855
|
|
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter)
|
rs118203681
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000368.5(TSC1):c.2357del (p.Arg786fs)
|
rs118203683
|
|
NM_000368.5(TSC1):c.2360_2364del (p.Glu787fs)
|
rs118203684
|
|
NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter)
|
rs118203685
|
|
NM_000368.5(TSC1):c.2364del (p.Glu788fs)
|
rs118203686
|
|
NM_000368.5(TSC1):c.2370C>T (p.Tyr790=)
|
rs1845442273
|
|
NM_000368.5(TSC1):c.2375A>T (p.Gln792Leu)
|
|
|
NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys)
|
rs781371665
|
|
NM_000368.5(TSC1):c.2387dup (p.Leu796fs)
|
rs397514786
|
|
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)
|
rs397514862
|
|
NM_000368.5(TSC1):c.2391G>T (p.Gln797His)
|
rs1827865790
|
|
NM_000368.5(TSC1):c.2392-1G>A
|
rs397514822
|
|
NM_000368.5(TSC1):c.239T>C (p.Val80Ala)
|
rs2132237603
|
|
NM_000368.5(TSC1):c.2401G>T (p.Glu801Ter)
|
rs118203687
|
|
NM_000368.5(TSC1):c.2402A>G (p.Glu801Gly)
|
rs1295965297
|
|
NM_000368.5(TSC1):c.2407del (p.Cys803fs)
|
rs118203688
|
|
NM_000368.5(TSC1):c.2412_2425del (p.Asn805fs)
|
rs118203689
|
|
NM_000368.5(TSC1):c.2421T>A (p.Ile807=)
|
rs754248661
|
|
NM_000368.5(TSC1):c.2421dup (p.Ala808fs)
|
rs118203691
|
|
NM_000368.5(TSC1):c.2431C>G (p.Arg811Gly)
|
rs397514814
|
|
NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp)
|
rs397514814
|
|
NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter)
|
rs1588299158
|
|
NM_000368.5(TSC1):c.244A>T (p.Lys82Ter)
|
rs2132237228
|
|
NM_000368.5(TSC1):c.2456_2459del (p.Asn819fs)
|
rs118203693
|
|
NM_000368.5(TSC1):c.2458_2460del (p.Lys820del)
|
rs2538573980
|
|
NM_000368.5(TSC1):c.2465_2466del (p.Cys822fs)
|
rs118203694
|
|
NM_000368.5(TSC1):c.2468_2469insG (p.His823fs)
|
rs118203696
|
|
NM_000368.5(TSC1):c.2468del (p.His823fs)
|
rs118203695
|
|
NM_000368.5(TSC1):c.2470_2471del (p.His823_Thr824insTer)
|
rs118203697
|
|
NM_000368.5(TSC1):c.2471_2472del (p.Thr824fs)
|
rs118203698
|
|
NM_000368.5(TSC1):c.2478G>A (p.Leu826=)
|
rs149719514
|
|
NM_000368.5(TSC1):c.2485A>T (p.Ser829Cys)
|
rs118203699
|
|
NM_000368.5(TSC1):c.2497C>T (p.Gln833Ter)
|
rs118203700
|
|
NM_000368.5(TSC1):c.2501dup (p.Leu835fs)
|
rs118203701
|
|
NM_000368.5(TSC1):c.2503-11T>A
|
rs201568350
|
|
NM_000368.5(TSC1):c.2503-11T>G
|
rs201568350
|
|
NM_000368.5(TSC1):c.2503-12T>C
|
rs765263617
|
|
NM_000368.5(TSC1):c.2503-1G>T
|
rs118203705
|
|
NM_000368.5(TSC1):c.2503-2A>G
|
rs118203704
|
|
NM_000368.5(TSC1):c.2503-35T>C
|
rs118203702
|
|
NM_000368.5(TSC1):c.2503-3T>C
|
rs1355806067
|
|
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter)
|
rs118203706
|
|
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)
|
rs118203707
|
|
NM_000368.5(TSC1):c.250G>T (p.Ala84Ser)
|
rs118203357
|
|
NM_000368.5(TSC1):c.2510dup (p.Asn837fs)
|
rs118203709
|
|
NM_000368.5(TSC1):c.2514T>G (p.Ser838Arg)
|
rs786203259
|
|
NM_000368.5(TSC1):c.2521dup (p.Val841fs)
|
rs397514850
|
|
NM_000368.5(TSC1):c.2523C>T (p.Val841=)
|
rs397514825
|
|
NM_000368.5(TSC1):c.2528_2534del (p.Gln843fs)
|
rs118203710
|
|
NM_000368.5(TSC1):c.252C>T (p.Ala84=)
|
rs2132236617
|
|
NM_000368.5(TSC1):c.252dup (p.Thr85fs)
|
rs118203358
|
|
NM_000368.5(TSC1):c.2555T>C (p.Leu852Pro)
|
rs2538550696
|
|
NM_000368.5(TSC1):c.2559_2562del (p.Leu853fs)
|
rs118203711
|
|
NM_000368.5(TSC1):c.2569del (p.Glu857fs)
|
rs118203712
|
|
NM_000368.5(TSC1):c.2569dup (p.Glu857fs)
|
rs118203712
|
|
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys)
|
rs1463772907
|
|
NM_000368.5(TSC1):c.2582del (p.Leu861fs)
|
rs397514865
|
|
NM_000368.5(TSC1):c.2595del (p.Gln865fs)
|
rs118203714
|
|
NM_000368.5(TSC1):c.2602A>G (p.Asn868Asp)
|
|
|
NM_000368.5(TSC1):c.260T>G (p.Leu87Ter)
|
rs397514776
|
|
NM_000368.5(TSC1):c.260_261insGA (p.Ser88fs)
|
rs118203359
|
|
NM_000368.5(TSC1):c.2614G>A (p.Asp872Asn)
|
rs746607455
|
|
NM_000368.5(TSC1):c.2622A>G (p.Thr874=)
|
rs2131684460
|
|
NM_000368.5(TSC1):c.2625+367A>G
|
rs1564474542
|
|
NM_000368.5(TSC1):c.2626-1G>A
|
rs397514847
|
|
NM_000368.5(TSC1):c.2626-21_2626-19dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-2A>C
|
rs118203717
|
|
NM_000368.5(TSC1):c.2626-2A>G
|
rs118203717
|
|
NM_000368.5(TSC1):c.2626-2A>T
|
rs118203717
|
|
NM_000368.5(TSC1):c.2626-2del
|
rs1845156018
|
|
NM_000368.5(TSC1):c.2626-3_2626-2insTA
|
rs760737807
|
|
NM_000368.5(TSC1):c.2626-3_2626-2insTG
|
rs760737807
|
|
NM_000368.5(TSC1):c.2626-4T[17_21]
|
|
|
NM_000368.5(TSC1):c.2626-4_2626-3dup
|
rs1554813638
|
|
NM_000368.5(TSC1):c.2626-4_2626-3insTTTTTTTTTTTTTTTTTTTTTAATTAATTATTCTAGTTTT
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-4dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-5_2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-5_2626-4dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-6_2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2626-6_2626-5insTC
|
rs1256355250
|
|
NM_000368.5(TSC1):c.2626-7_2626-4del
|
rs5901000
|
|
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile)
|
rs1554813610
|
|
NM_000368.5(TSC1):c.2650dup (p.Tyr884fs)
|
rs118203722
|
|
NM_000368.5(TSC1):c.2652T>A (p.Tyr884Ter)
|
rs397514805
|
|
NM_000368.5(TSC1):c.2657_2658del (p.Lys886fs)
|
rs397514788
|
|
NM_000368.5(TSC1):c.2658del (p.Glu887fs)
|
rs397514788
|
|
NM_000368.5(TSC1):c.2665G>T (p.Glu889Ter)
|
rs775589156
|
|
NM_000368.5(TSC1):c.2671_2672dup (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2672del (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2672dup (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs)
|
rs118203726
|
|
NM_000368.5(TSC1):c.2681A>G (p.His894Arg)
|
rs1588290830
|
|
NM_000368.5(TSC1):c.2682T>C (p.His894=)
|
rs771479673
|
|
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter)
|
rs118203727
|
|
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter)
|
rs118203728
|
|
NM_000368.5(TSC1):c.2694del (p.Thr899fs)
|
rs118203729
|
|
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)
|
rs397514871
|
|
NM_000368.5(TSC1):c.2699del (p.Gln900fs)
|
rs118203731
|
|
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter)
|
rs118203732
|
|
NM_000368.5(TSC1):c.271_272del (p.Ser91fs)
|
rs118203360
|
|
NM_000368.5(TSC1):c.2722C>A (p.Arg908=)
|
rs748845915
|
|
NM_000368.5(TSC1):c.272C>A (p.Ser91Ter)
|
rs118203361
|
|
NM_000368.5(TSC1):c.2755A>C (p.Lys919Gln)
|
rs1319954878
|
|
NM_000368.5(TSC1):c.2760C>T (p.Asp920=)
|
rs1226490074
|
|
NM_000368.5(TSC1):c.276_277insAA (p.Leu93fs)
|
rs118203362
|
|
NM_000368.5(TSC1):c.276dup (p.Leu93fs)
|
rs118203362
|
|
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter)
|
rs397514879
|
|
NM_000368.5(TSC1):c.2781_2784del (p.Lys927fs)
|
rs397514845
|
|
NM_000368.5(TSC1):c.2786_2787del (p.Tyr929fs)
|
rs118203734
|
|
NM_000368.5(TSC1):c.278T>G (p.Leu93Arg)
|
rs118203363
|
|
NM_000368.5(TSC1):c.2796T>G (p.Asp932Glu)
|
rs766871150
|
|
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)
|
rs118203735
|
|
NM_000368.5(TSC1):c.2813+3_2813+21del
|
rs118203737
|
|
NM_000368.5(TSC1):c.2813G>A (p.Arg938Lys)
|
rs1249697208
|
|
NM_000368.5(TSC1):c.2813_2813+4del
|
rs118203736
|
|
NM_000368.5(TSC1):c.2815G>A (p.Gly939Arg)
|
rs1564471685
|
|
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter)
|
rs1588290078
|
|
NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter)
|
rs2131628564
|
|
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser)
|
rs751362258
|
|
NM_000368.5(TSC1):c.2830_2831insGCCTG (p.Ala944fs)
|
rs118203739
|
|
NM_000368.5(TSC1):c.2831C>T (p.Ala944Val)
|
rs2131628148
|
|
NM_000368.5(TSC1):c.2851C>A (p.Gln951Lys)
|
rs2538481248
|
|
NM_000368.5(TSC1):c.2878T>C (p.Leu960=)
|
rs766383986
|
|
NM_000368.5(TSC1):c.289A>T (p.Ile97Leu)
|
rs138541569
|
|
NM_000368.5(TSC1):c.2904G>A (p.Arg968=)
|
rs1554813280
|
|
NM_000368.5(TSC1):c.2905T>C (p.Leu969=)
|
rs768350176
|
|
NM_000368.5(TSC1):c.2933T>A (p.Leu978His)
|
rs770834438
|
|
NM_000368.5(TSC1):c.2935G>A (p.Glu979Lys)
|
rs1845118974
|
|
NM_000368.5(TSC1):c.2949_2957del (p.985AAE[1])
|
rs767902029
|
|
NM_000368.5(TSC1):c.2976-15C>T
|
rs1195411560
|
|
NM_000368.5(TSC1):c.2977C>A (p.Leu993Ile)
|
rs1177810382
|
|
NM_000368.5(TSC1):c.2977C>T (p.Leu993Phe)
|
rs1177810382
|
|
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly)
|
rs1554813029
|
|
NM_000368.5(TSC1):c.2987G>C (p.Cys996Ser)
|
rs771810884
|
|
NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe)
|
rs1554812991
|
|
NM_000368.5(TSC1):c.3010A>T (p.Met1004Leu)
|
rs371879917
|
|
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile)
|
rs751970451
|
|
NM_000368.5(TSC1):c.3018G>A (p.Gly1006=)
|
rs910475358
|
|
NM_000368.5(TSC1):c.3018G>T (p.Gly1006=)
|
rs910475358
|
|
NM_000368.5(TSC1):c.3024T>C (p.Asn1008=)
|
rs142954164
|
|
NM_000368.5(TSC1):c.303A>G (p.Pro101=)
|
rs2132233153
|
|
NM_000368.5(TSC1):c.3044A>G (p.Asn1015Ser)
|
rs2131613702
|
|
NM_000368.5(TSC1):c.3050A>G (p.Glu1017Gly)
|
rs922638686
|
|
NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu)
|
rs1317622700
|
|
NM_000368.5(TSC1):c.3058A>G (p.Thr1020Ala)
|
rs1588287982
|
|
NM_000368.5(TSC1):c.3059C>G (p.Thr1020Ser)
|
|
|
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=)
|
rs1380396209
|
|
NM_000368.5(TSC1):c.3062C>G (p.Pro1021Arg)
|
rs1845082733
|
|
NM_000368.5(TSC1):c.3063del (p.Arg1022fs)
|
rs2131612319
|
|
NM_000368.5(TSC1):c.3067C>T (p.Pro1023Ser)
|
rs138445573
|
|
NM_000368.5(TSC1):c.3069C>T (p.Pro1023=)
|
rs1588287899
|
|
NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn)
|
rs1845081620
|
|
NM_000368.5(TSC1):c.3088A>G (p.Ser1030Gly)
|
rs1588287783
|
|
NM_000368.5(TSC1):c.308G>A (p.Trp103Ter)
|
rs118203364
|
|
NM_000368.5(TSC1):c.309G>A (p.Trp103Ter)
|
rs118203365
|
|
NM_000368.5(TSC1):c.3106G>A (p.Gly1036Arg)
|
rs1588287655
|
|
NM_000368.5(TSC1):c.3112AGC[5] (p.Ser1043del)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3112AGC[8] (p.Ser1042_Ser1043dup)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3112AGC[9] (p.Ser1041_Ser1043dup)
|
rs2234980
|
|
NM_000368.5(TSC1):c.3113G>A (p.Ser1038Asn)
|
rs1060503196
|
|
NM_000368.5(TSC1):c.3114C>T (p.Ser1038=)
|
rs1588287598
|
|
NM_000368.5(TSC1):c.3127A>G (p.Ser1043Gly)
|
rs1554812848
|
|
NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu)
|
rs1203864892
|
|
NM_000368.5(TSC1):c.3146A>G (p.Glu1049Gly)
|
rs2131606041
|
|
NM_000368.5(TSC1):c.3155C>T (p.Pro1052Leu)
|
rs2131605173
|
|
NM_000368.5(TSC1):c.3157C>T (p.His1053Tyr)
|
|
|
NM_000368.5(TSC1):c.3158A>C (p.His1053Pro)
|
rs1309531545
|
|
NM_000368.5(TSC1):c.3193A>G (p.Thr1065Ala)
|
rs2131602510
|
|
NM_000368.5(TSC1):c.3205G>A (p.Glu1069Lys)
|
rs1845061706
|
|
NM_000368.5(TSC1):c.3209C>G (p.Ala1070Gly)
|
rs1060503200
|
|
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val)
|
rs1060503200
|
|
NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val)
|
rs779369226
|
|
NM_000368.5(TSC1):c.3216C>T (p.Ala1072=)
|
rs118203747
|
|
NM_000368.5(TSC1):c.3217A>G (p.Ser1073Gly)
|
rs1845059319
|
|
NM_000368.5(TSC1):c.3223C>G (p.Pro1075Ala)
|
|
|
NM_000368.5(TSC1):c.3227C>G (p.Thr1076Ser)
|
rs2131600316
|
|
NM_000368.5(TSC1):c.3231T>C (p.Thr1077=)
|
rs118203748
|
|
NM_000368.5(TSC1):c.3242T>A (p.Leu1081His)
|
rs2131599348
|
|
NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala)
|
rs1060503191
|
|
NM_000368.5(TSC1):c.324_325del (p.Gln109fs)
|
rs397514795
|
|
NM_000368.5(TSC1):c.3257G>A (p.Ser1086Asn)
|
rs774286125
|
|
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg)
|
rs1845053380
|
|
NM_000368.5(TSC1):c.325C>T (p.Gln109Ter)
|
rs397514774
|
|
NM_000368.5(TSC1):c.3264G>C (p.Leu1088=)
|
rs2131598004
|
|
NM_000368.5(TSC1):c.3266del (p.Gly1089fs)
|
rs1845052735
|
|
NM_000368.5(TSC1):c.3277C>T (p.Arg1093Ter)
|
rs1431256375
|
|
NM_000368.5(TSC1):c.3301G>A (p.Glu1101Lys)
|
rs1554812661
|
|
NM_000368.5(TSC1):c.3315T>C (p.Asp1105=)
|
rs2131594829
|
|
NM_000368.5(TSC1):c.3318G>A (p.Glu1106=)
|
rs2131594665
|
|
NM_000368.5(TSC1):c.3322G>T (p.Gly1108Cys)
|
rs118203753
|
|
NM_000368.5(TSC1):c.334_335dup (p.Leu113fs)
|
rs118203366
|
|
NM_000368.5(TSC1):c.3353A>G (p.Lys1118Arg)
|
rs2131592698
|
|
NM_000368.5(TSC1):c.3361C>T (p.Leu1121=)
|
rs769478982
|
|
NM_000368.5(TSC1):c.338del (p.Leu113fs)
|
rs118203367
|
|
NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser)
|
rs1249897804
|
|
NM_000368.5(TSC1):c.3399G>T (p.Leu1133=)
|
rs2131589934
|
|
NM_000368.5(TSC1):c.33T>C (p.Leu11=)
|
rs1329395556
|
|
NM_000368.5(TSC1):c.3412C>T (p.Pro1138Ser)
|
rs2131589157
|
|
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=)
|
rs759431801
|
|
NM_000368.5(TSC1):c.3432C>G (p.Thr1144=)
|
rs1588285980
|
|
NM_000368.5(TSC1):c.3438C>G (p.Asp1146Glu)
|
rs1845026177
|
|
NM_000368.5(TSC1):c.3443T>C (p.Val1148Ala)
|
rs2131587093
|
|
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp)
|
rs796053451
|
|
NM_000368.5(TSC1):c.3475A>C (p.Thr1159Pro)
|
rs1216169846
|
|
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe)
|
rs755799702
|
|
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro)
|
rs118203368
|
|
NM_000368.5(TSC1):c.356G>T (p.Cys119Phe)
|
rs1554820265
|
|
NM_000368.5(TSC1):c.362A>G (p.Lys121Arg)
|
rs118203369
|
|
NM_000368.5(TSC1):c.363+1G>A
|
rs118203372
|
|
NM_000368.5(TSC1):c.363+1G>T
|
rs118203372
|
|
NM_000368.5(TSC1):c.363+1dup
|
rs118203371
|
|
NM_000368.5(TSC1):c.363+47T>C
|
rs118203375
|
|
NM_000368.5(TSC1):c.363+5G>A
|
rs118203374
|
|
NM_000368.5(TSC1):c.363+668G>A
|
|
|
NM_000368.5(TSC1):c.363G>A (p.Lys121=)
|
rs118203370
|
|
NM_000368.5(TSC1):c.364-15C>T
|
rs1846686000
|
|
NM_000368.5(TSC1):c.364-1G>C
|
rs118203376
|
|
NM_000368.5(TSC1):c.372dup (p.Asp125Ter)
|
rs118203377
|
|
NM_000368.5(TSC1):c.381_383del (p.Val128del)
|
rs118203378
|
|
NM_000368.5(TSC1):c.385dup (p.Leu129fs)
|
rs397514852
|
|
NM_000368.5(TSC1):c.395G>A (p.Gly132Asp)
|
rs397514784
|
|
NM_000368.5(TSC1):c.395_406delinsCA (p.Gly132fs)
|
rs118203380
|
|
NM_000368.5(TSC1):c.396C>T (p.Gly132=)
|
rs368922726
|
|
NM_000368.5(TSC1):c.397G>T (p.Val133Phe)
|
rs118203381
|
|
NM_000368.5(TSC1):c.39G>A (p.Met13Ile)
|
rs2132296041
|
|
NM_000368.5(TSC1):c.3G>A (p.Met1Ile)
|
rs2539147331
|
|
NM_000368.5(TSC1):c.403G>T (p.Val135Leu)
|
rs1588350708
|
|
NM_000368.5(TSC1):c.415A>G (p.Met139Val)
|
rs780442112
|
|
NM_000368.5(TSC1):c.425T>C (p.Met142Thr)
|
rs886042190
|
|
NM_000368.5(TSC1):c.433C>T (p.Gln145Ter)
|
rs118203382
|
|
NM_000368.5(TSC1):c.433_434del (p.Gln145fs)
|
rs118203383
|
|
NM_000368.5(TSC1):c.43G>A (p.Asp15Asn)
|
rs1554821020
|
|
NM_000368.5(TSC1):c.444A>G (p.Lys148=)
|
rs2132189552
|
|
NM_000368.5(TSC1):c.445C>T (p.Gln149Ter)
|
rs118203384
|
|
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser)
|
rs118203385
|
|
NM_000368.5(TSC1):c.47C>T (p.Ser16Phe)
|
rs774900322
|
|
NM_000368.5(TSC1):c.491G>T (p.Trp164Leu)
|
rs118203387
|
|
NM_000368.5(TSC1):c.503A>G (p.Lys168Arg)
|
rs1007335343
|
|
NM_000368.5(TSC1):c.504del (p.Lys168fs)
|
rs118203389
|
|
NM_000368.5(TSC1):c.508+1G>A
|
rs118203390
|
|
NM_000368.5(TSC1):c.508+1G>C
|
rs118203390
|
|
NM_000368.5(TSC1):c.509-14G>T
|
rs984165284
|
|
NM_000368.5(TSC1):c.509-15G>A
|
rs118203391
|
|
NM_000368.5(TSC1):c.515dup (p.Ala173fs)
|
rs2539017364
|
|
NM_000368.5(TSC1):c.516G>A (p.Val172=)
|
rs1419763219
|
|
NM_000368.5(TSC1):c.520G>T (p.Glu174Ter)
|
rs118203392
|
|
NM_000368.5(TSC1):c.527_528del (p.Tyr176fs)
|
rs118203394
|
|
NM_000368.5(TSC1):c.530del (p.Leu177fs)
|
rs397514794
|
|
NM_000368.5(TSC1):c.539T>C (p.Leu180Pro)
|
rs118203396
|
|
NM_000368.5(TSC1):c.542A>C (p.His181Pro)
|
rs397515294
|
|
NM_000368.5(TSC1):c.542A>G (p.His181Arg)
|
rs397515294
|
|
NM_000368.5(TSC1):c.54G>C (p.Met18Ile)
|
rs940292214
|
|
NM_000368.5(TSC1):c.553T>G (p.Tyr185Asp)
|
rs2132158758
|
|
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr)
|
rs1279777367
|
|
NM_000368.5(TSC1):c.563_564del (p.Phe188fs)
|
rs118203399
|
|
NM_000368.5(TSC1):c.569G>C (p.Arg190Pro)
|
rs118203402
|
|
NM_000368.5(TSC1):c.571C>G (p.Leu191Val)
|
rs1846585825
|
|
NM_000368.5(TSC1):c.572T>A (p.Leu191His)
|
rs118203403
|
|
NM_000368.5(TSC1):c.572T>G (p.Leu191Arg)
|
rs118203403
|
|
NM_000368.5(TSC1):c.575del (p.Tyr192fs)
|
rs118203405
|
|
NM_000368.5(TSC1):c.576T>G (p.Tyr192Ter)
|
rs118203406
|
|
NM_000368.5(TSC1):c.585C>A (p.Tyr195Ter)
|
rs118203407
|
|
NM_000368.5(TSC1):c.590dup (p.Cys197fs)
|
rs397514868
|
|
NM_000368.5(TSC1):c.591dup (p.Asn198fs)
|
rs397514836
|
|
NM_000368.5(TSC1):c.593_595del (p.Asn198_Phe199delinsIle)
|
rs118203408
|
|
NM_000368.5(TSC1):c.597_603del (p.Val200fs)
|
rs118203409
|
|
NM_000368.5(TSC1):c.599dup (p.Ser201fs)
|
rs118203411
|
|
NM_000368.5(TSC1):c.600C>A (p.Val200=)
|
rs2132154133
|
|
NM_000368.5(TSC1):c.602_604del (p.Ser201del)
|
rs118203412
|
|
NM_000368.5(TSC1):c.607_608dup (p.Leu203fs)
|
rs118203413
|
|
NM_000368.5(TSC1):c.611G>C (p.Arg204Pro)
|
rs397514834
|
|
NM_000368.5(TSC1):c.622A>G (p.Ser208Gly)
|
rs778671811
|
|
NM_000368.5(TSC1):c.624del (p.Ser208fs)
|
rs397514837
|
|
NM_000368.5(TSC1):c.642G>T (p.Glu214Asp)
|
rs904190788
|
|
NM_000368.5(TSC1):c.647T>C (p.Phe216Ser)
|
rs118203416
|
|
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer)
|
rs118203417
|
|
NM_000368.5(TSC1):c.648del (p.Phe216fs)
|
rs118203417
|
|
NM_000368.5(TSC1):c.654A>C (p.Glu218Asp)
|
rs2539008409
|
|
NM_000368.5(TSC1):c.654dup (p.Val219fs)
|
rs118203418
|
|
NM_000368.5(TSC1):c.660C>T (p.Val220=)
|
rs1588346808
|
|
NM_000368.5(TSC1):c.663+10A>C
|
rs397514833
|
|
NM_000368.5(TSC1):c.663+39dup
|
rs118203421
|
|
NM_000368.5(TSC1):c.663+7T>A
|
rs118203420
|
|
NM_000368.5(TSC1):c.664-15A>G
|
rs118203422
|
|
NM_000368.5(TSC1):c.664-1G>C
|
rs118203423
|
|
NM_000368.5(TSC1):c.665del (p.Pro222fs)
|
rs118203425
|
|
NM_000368.5(TSC1):c.671T>G (p.Met224Arg)
|
rs118203426
|
|
NM_000368.5(TSC1):c.681G>C (p.Val227=)
|
|
|
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)
|
rs118203427
|
|
NM_000368.5(TSC1):c.683G>A (p.Arg228Gln)
|
rs1223799508
|
|
NM_000368.5(TSC1):c.690T>C (p.His230=)
|
rs2132136607
|
|
NM_000368.5(TSC1):c.694G>T (p.Glu232Ter)
|
rs118203429
|
|
NM_000368.5(TSC1):c.694del (p.Glu232fs)
|
rs118203428
|
|
NM_000368.5(TSC1):c.709dup (p.Ser237fs)
|
rs118203430
|
|
NM_000368.5(TSC1):c.70del (p.Asp24fs)
|
rs118203330
|
|
NM_000368.5(TSC1):c.712A>T (p.Lys238Ter)
|
rs397514816
|
|
NM_000368.5(TSC1):c.720_721insA (p.Glu241fs)
|
rs118203431
|
|
NM_000368.5(TSC1):c.724C>T (p.Leu242=)
|
rs118203432
|
|
NM_000368.5(TSC1):c.732del (p.Arg245fs)
|
rs118203433
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000368.5(TSC1):c.737+1G>A
|
rs118203438
|
|
NM_000368.5(TSC1):c.737+1G>T
|
rs118203438
|
|
NM_000368.5(TSC1):c.737+1del
|
rs118203435
|
|
NM_000368.5(TSC1):c.737+3A>G
|
rs118203439
|
|
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)
|
rs118203436
|
|
NM_000368.5(TSC1):c.737G>C (p.Arg246Thr)
|
rs118203436
|
|
NM_000368.5(TSC1):c.737G>T (p.Arg246Met)
|
rs118203436
|
|
NM_000368.5(TSC1):c.738-2A>G
|
rs118203440
|
|
NM_000368.5(TSC1):c.738-36_747del
|
rs397514839
|
|
NM_000368.5(TSC1):c.738G>A (p.Arg246=)
|
rs118203441
|
|
NM_000368.5(TSC1):c.742A>T (p.Lys248Ter)
|
rs118203442
|
|
NM_000368.5(TSC1):c.745A>T (p.Arg249Ter)
|
rs118203443
|
|
NM_000368.5(TSC1):c.745del (p.Arg249fs)
|
rs118203444
|
|
NM_000368.5(TSC1):c.747A>G (p.Arg249=)
|
rs2538897348
|
|
NM_000368.5(TSC1):c.749T>A (p.Leu250Ter)
|
rs118203447
|
|
NM_000368.5(TSC1):c.749T>C (p.Leu250Ser)
|
rs118203447
|
|
NM_000368.5(TSC1):c.749T>G (p.Leu250Ter)
|
rs118203447
|
|
NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer)
|
rs118203445
|
|
NM_000368.5(TSC1):c.749dup (p.Leu250fs)
|
rs118203445
|
|
NM_000368.5(TSC1):c.759T>C (p.His253=)
|
rs748775797
|
|
NM_000368.5(TSC1):c.771C>A (p.Ile257=)
|
rs1060504854
|
|
NM_000368.5(TSC1):c.771del (p.Ile257fs)
|
rs118203449
|
|
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter)
|
rs118203450
|
|
NM_000368.5(TSC1):c.791T>C (p.Leu264Pro)
|
|
|
NM_000368.5(TSC1):c.792G>A (p.Leu264=)
|
rs1257538409
|
|
NM_000368.5(TSC1):c.792_793dup (p.Asp265fs)
|
rs2538894614
|
|
NM_000368.5(TSC1):c.799A>C (p.Thr267Pro)
|
|
|
NM_000368.5(TSC1):c.812_813del (p.Ser270_Tyr271insTer)
|
rs118203451
|
|
NM_000368.5(TSC1):c.813T>A (p.Tyr271Ter)
|
rs118203452
|
|
NM_000368.5(TSC1):c.814G>T (p.Glu272Ter)
|
rs397514872
|
|
NM_000368.5(TSC1):c.81T>A (p.Ala27=)
|
rs1588363327
|
|
NM_000368.5(TSC1):c.81T>C (p.Ala27=)
|
rs1588363327
|
|
NM_000368.5(TSC1):c.824_825dup (p.Ser276fs)
|
rs118203453
|
|
NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter)
|
rs118203454
|
|
NM_000368.5(TSC1):c.831_832del (p.His279fs)
|
rs118203455
|
|
NM_000368.5(TSC1):c.834_835del (p.His279fs)
|
rs118203457
|
|
NM_000368.5(TSC1):c.838C>T (p.Gln280Ter)
|
rs118203458
|
|
NM_000368.5(TSC1):c.83T>A (p.Val28Asp)
|
rs2539143116
|
|
NM_000368.5(TSC1):c.844T>G (p.Ser282Ala)
|
rs2131998892
|
|
NM_000368.5(TSC1):c.845C>A (p.Ser282Ter)
|
rs118203459
|
|
NM_000368.5(TSC1):c.846dup (p.Ala283fs)
|
rs118203460
|
|
NM_000368.5(TSC1):c.851G>T (p.Arg284Leu)
|
rs151309813
|
|
NM_000368.5(TSC1):c.852C>T (p.Arg284=)
|
rs769706203
|
|
NM_000368.5(TSC1):c.856C>T (p.Pro286Ser)
|
rs1047485135
|
|
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter)
|
rs397514867
|
|
NM_000368.5(TSC1):c.870C>T (p.Ala290=)
|
rs779155575
|
|
NM_000368.5(TSC1):c.873T>C (p.Asp291=)
|
rs753928162
|
|
NM_000368.5(TSC1):c.878C>T (p.Thr293Ile)
|
rs756681916
|
|
NM_000368.5(TSC1):c.891T>A (p.Tyr297Ter)
|
rs118203461
|
|
NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter)
|
rs118203461
|
|
NM_000368.5(TSC1):c.901C>T (p.Gln301Ter)
|
rs118203463
|
|
NM_000368.5(TSC1):c.901_902del (p.Gln301fs)
|
rs118203464
|
|
NM_000368.5(TSC1):c.901_913+1del
|
rs118203465
|
|
NM_000368.5(TSC1):c.902A>G (p.Gln301Arg)
|
rs1389512342
|
|
NM_000368.5(TSC1):c.906T>C (p.Asn302=)
|
rs2131993782
|
|
NM_000368.5(TSC1):c.90A>G (p.Lys30=)
|
rs1847032608
|
|
NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter)
|
rs118203466
|
|
NM_000368.5(TSC1):c.912_913+5del
|
rs118203467
|
|
NM_000368.5(TSC1):c.913+1G>A
|
rs118203470
|
|
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg)
|
rs118203468
|
|
NM_000368.5(TSC1):c.913G>T (p.Gly305Trp)
|
rs118203468
|
|
NM_000368.5(TSC1):c.914-18T>C
|
rs118203471
|
|
NM_000368.5(TSC1):c.915G>A (p.Gly305=)
|
rs397515293
|
|
NM_000368.5(TSC1):c.915G>T (p.Gly305=)
|
rs397515293
|
|
NM_000368.5(TSC1):c.91G>C (p.Glu31Gln)
|
rs1847032440
|
|
NM_000368.5(TSC1):c.921T>C (p.Ala307=)
|
rs397514826
|
|
NM_000368.5(TSC1):c.923C>A (p.Thr308Asn)
|
rs1554817432
|
|
NM_000368.5(TSC1):c.929C>G (p.Thr310Ser)
|
rs1588324860
|
|
NM_000368.5(TSC1):c.932C>T (p.Pro311Leu)
|
rs776158460
|
|
NM_000368.5(TSC1):c.936C>A (p.Tyr312Ter)
|
rs118203472
|
|
NM_000368.5(TSC1):c.959_965del (p.Leu320fs)
|
rs1588324615
|
|
NM_000368.5(TSC1):c.972G>A (p.Gly324=)
|
rs118203473
|
|
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter)
|
rs118203474
|
|
NM_000368.5(TSC1):c.974A>G (p.Gln325Arg)
|
rs1564488890
|
|
NM_000368.5(TSC1):c.978A>G (p.Leu326=)
|
rs1060504862
|
|
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe)
|
rs1847031671
|
|
NM_000368.5(TSC1):c.983dup (p.Thr329fs)
|
rs118203475
|
|
NM_000368.5(TSC1):c.988_989del (p.Leu330fs)
|
rs118203477
|
|
NM_000368.5(TSC1):c.988dup (p.Leu330fs)
|
rs118203476
|
|
NM_000368.5(TSC1):c.989_990del (p.Leu330fs)
|
rs118203479
|
|
NM_000368.5(TSC1):c.989del (p.Leu330fs)
|
rs397514870
|
|
NM_000368.5(TSC1):c.989dup (p.Ser331fs)
|
rs118203478
|
|
NM_000368.5(TSC1):c.994_995insA (p.Ser332fs)
|
rs118203480
|
|
NM_000368.5(TSC1):c.9A>G (p.Gln3=)
|
rs1588363733
|
|
NM_000548.3(TSC2):c.(1445_1599)del (p.Glu(1445_1599)Glyfs)
|
|
|
NM_000548.3(TSC2):c.1258-?_1599+?del (p.?)
|
|
|
NM_000548.3(TSC2):c.2021_2022insA (p.Ala675Cysfs)
|
rs606231381
|
|
NM_000548.3(TSC2):c.3611_3627dup
|
rs137854088
|
|
NM_000548.3(TSC2):c.4034_4035insCTTA (p.Lys1345Asnfs)
|
rs137854341
|
|
NM_000548.3(TSC2):c.4991delG
|
rs137854064
|
|
NM_000548.3(TSC2):c.5068+27_5069-47dup34
|
|
|
NM_000548.3(TSC2):c.567_568dup (p.Tyr190Phefs)
|
rs137854332
|
|
NM_000548.3(TSC2):c.[3623_3647del;3745_3756dup]
|
|
|
NM_000548.3(TSC2):c.[4358_4359delCC; 4361_4372del12]
|
|
|
NM_000548.3(TSC2):c.[4621_4629del9;4621_4634ins14]
|
|
|
NM_000548.3(TSC2):c.[976-20T>A;976-17_976-1dup]
|
|
|
NM_000548.3:c.*61insG
|
|
|
NM_000548.3:c.3673_3674insNNNNN
|
|
|
NM_000548.3:c.3884-15G>A
|
|
|
NM_000548.3:c.971_1027del
|
|
|
NM_000548.4(TSC2):c.*67_*69delTGAins5
|
|
|
NM_000548.4(TSC2):c.2647_2648ins24
|
|
|
NM_000548.4(TSC2):c.2836_2837ins37
|
|
|
NM_000548.4(TSC2):c.2967-?_3610+?del
|
|
|
NM_000548.4(TSC2):c.3124_3125ins20
|
|
|
NM_000548.4(TSC2):c.4403_4404ins27
|
|
|
NM_000548.4(TSC2):c.4598_4599ins29
|
|
|
NM_000548.4(TSC2):c.4920_4921ins17
|
|
|
NM_000548.5(TSC2):c.*127T>G
|
rs34379884
|
|
NM_000548.5(TSC2):c.*128G>A
|
rs730882074
|
|
NM_000548.5(TSC2):c.*145del
|
rs202247051
|
|
NM_000548.5(TSC2):c.*154dup
|
rs397514891
|
|
NM_000548.5(TSC2):c.*23C>T
|
rs774841226
|
|
NM_000548.5(TSC2):c.*55TAAA[1]
|
rs137854184
|
|
NM_000548.5(TSC2):c.*5G>T
|
rs201342697
|
|
NM_000548.5(TSC2):c.*61_*62del
|
rs36032671
|
|
NM_000548.5(TSC2):c.*62_*63del
|
rs397515122
|
|
NM_000548.5(TSC2):c.*6G>A
|
rs397515008
|
|
NM_000548.5(TSC2):c.*71C>A
|
rs45498900
|
|
NM_000548.5(TSC2):c.*86T>G
|
rs915706457
|
|
NM_000548.5(TSC2):c.-13G>T
|
|
|
NM_000548.5(TSC2):c.-29-10G>C
|
rs28537973
|
|
NM_000548.5(TSC2):c.-30+1G>C
|
rs587778004
|
|
NM_000548.5(TSC2):c.-30+1G>T
|
rs587778004
|
|
NM_000548.5(TSC2):c.-30_-30+11del
|
rs2548336970
|
|
NM_000548.5(TSC2):c.-33_-30+10del
|
rs2548336887
|
|
NM_000548.5(TSC2):c.-4C>T
|
rs1596233597
|
|
NM_000548.5(TSC2):c.-85G>C
|
rs540716235
|
|
NM_000548.5(TSC2):c.-87A>G
|
rs886051785
|
|
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala)
|
rs45484892
|
|
NM_000548.5(TSC2):c.1001T>G (p.Val334Gly)
|
rs45484892
|
|
NM_000548.5(TSC2):c.1002G>T (p.Val334=)
|
rs2151135280
|
|
NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys)
|
rs45517144
|
|
NM_000548.5(TSC2):c.1005C>G (p.Ser335=)
|
rs397514924
|
|
NM_000548.5(TSC2):c.1005C>T (p.Ser335=)
|
rs397514924
|
|
NM_000548.5(TSC2):c.1006T>C (p.Tyr336His)
|
rs2086522579
|
|
NM_000548.5(TSC2):c.1007_1008del (p.Ser335_Tyr336insTer)
|
rs397515002
|
|
NM_000548.5(TSC2):c.1009G>A (p.Glu337Lys)
|
rs45517145
|
|
NM_000548.5(TSC2):c.1009G>T (p.Glu337Ter)
|
rs45517145
|
|
NM_000548.5(TSC2):c.1011_1014delinsCATGGCAT (p.Glu337fs)
|
rs137854269
|
|
NM_000548.5(TSC2):c.1017C>G (p.Val339=)
|
rs1327205698
|
|
NM_000548.5(TSC2):c.1017C>T (p.Val339=)
|
|
|
NM_000548.5(TSC2):c.1019T>C (p.Leu340Pro)
|
rs397515192
|
|
NM_000548.5(TSC2):c.1029C>T (p.Thr343=)
|
rs45468201
|
|
NM_000548.5(TSC2):c.1034T>G (p.Leu345Arg)
|
rs45451295
|
|
NM_000548.5(TSC2):c.1037T>C (p.Ile346Thr)
|
rs2151136498
|
|
NM_000548.5(TSC2):c.103C>T (p.Gln35Ter)
|
rs137854105
|
|
NM_000548.5(TSC2):c.1042A>T (p.Lys348Ter)
|
rs45517146
|
|
NM_000548.5(TSC2):c.1052A>G (p.Lys351Arg)
|
rs748109163
|
|
NM_000548.5(TSC2):c.1054G>A (p.Glu352Lys)
|
rs1596298442
|
|
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter)
|
rs45469896
|
|
NM_000548.5(TSC2):c.1061A>T (p.Gln354Leu)
|
rs1394071689
|
|
NM_000548.5(TSC2):c.1061_1119+22dup
|
rs2548521595
|
|
NM_000548.5(TSC2):c.1070C>A (p.Ala357Glu)
|
rs150195368
|
|
NM_000548.5(TSC2):c.107C>T (p.Thr36Met)
|
rs376280172
|
|
NM_000548.5(TSC2):c.1080dup (p.Leu361fs)
|
rs397515198
|
|
NM_000548.5(TSC2):c.1082T>C (p.Leu361Pro)
|
rs45517147
|
|
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)
|
rs137854345
|
|
NM_000548.5(TSC2):c.1086G>A (p.Leu362=)
|
rs1416323572
|
|
NM_000548.5(TSC2):c.1090ATC[1] (p.Ile365del)
|
rs137854367
|
|
NM_000548.5(TSC2):c.1092C>T (p.Ile364=)
|
rs2151138326
|
|
NM_000548.5(TSC2):c.1094_1095del (p.Ile365fs)
|
rs137854423
|
|
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.1096G>T (p.Glu366Ter)
|
rs45517148
|
|
NM_000548.5(TSC2):c.1098A>G (p.Glu366=)
|
rs113071226
|
|
NM_000548.5(TSC2):c.1099C>T (p.Arg367Trp)
|
rs757844109
|
|
NM_000548.5(TSC2):c.1099del (p.Arg367fs)
|
rs397515273
|
|
NM_000548.5(TSC2):c.109dup (p.Glu37fs)
|
rs137854178
|
|
NM_000548.5(TSC2):c.10C>T (p.Pro4Ser)
|
rs2150969834
|
|
NM_000548.5(TSC2):c.1100G>C (p.Arg367Pro)
|
rs1800725
|
|
NM_000548.5(TSC2):c.1101G>A (p.Arg367=)
|
rs45517149
|
|
NM_000548.5(TSC2):c.1101G>C (p.Arg367=)
|
rs45517149
|
|
NM_000548.5(TSC2):c.1105C>T (p.Leu369Phe)
|
rs1195544121
|
|
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter)
|
rs45469099
|
|
NM_000548.5(TSC2):c.1113G>T (p.Gln371His)
|
rs571767462
|
|
NM_000548.5(TSC2):c.1117C>T (p.Gln373Ter)
|
rs45458694
|
|
NM_000548.5(TSC2):c.1118A>C (p.Gln373Pro)
|
rs397515131
|
|
NM_000548.5(TSC2):c.1119+1G>A
|
rs45475793
|
|
NM_000548.5(TSC2):c.1119+2T>G
|
rs137854173
|
|
NM_000548.5(TSC2):c.1119+6G>A
|
rs397515305
|
|
NM_000548.5(TSC2):c.1121C>G (p.Thr374Ser)
|
rs1440918649
|
|
NM_000548.5(TSC2):c.1135del (p.Glu379fs)
|
rs137854072
|
|
NM_000548.5(TSC2):c.1142G>A (p.Arg381Lys)
|
rs45465395
|
|
NM_000548.5(TSC2):c.1143_1174del (p.Thr382fs)
|
rs137854007
|
|
NM_000548.5(TSC2):c.1143del (p.Thr382fs)
|
rs397514970
|
|
NM_000548.5(TSC2):c.1146C>T (p.Thr382=)
|
rs887128869
|
|
NM_000548.5(TSC2):c.114del (p.Phe38fs)
|
rs137854355
|
|
NM_000548.5(TSC2):c.114dup (p.Ile39fs)
|
rs137854355
|
|
NM_000548.5(TSC2):c.1151T>A (p.Val384Asp)
|
rs397515214
|
|
NM_000548.5(TSC2):c.115del (p.Ile39fs)
|
rs397515078
|
|
NM_000548.5(TSC2):c.1160T>C (p.Leu387Pro)
|
rs397515123
|
|
NM_000548.5(TSC2):c.1160_1167del (p.Leu387fs)
|
rs137854398
|
|
NM_000548.5(TSC2):c.1167del (p.Thr390fs)
|
rs137854283
|
|
NM_000548.5(TSC2):c.1175A>C (p.Glu392Ala)
|
|
|
NM_000548.5(TSC2):c.1175A>G (p.Glu392Gly)
|
|
|
NM_000548.5(TSC2):c.1181T>C (p.Leu394Pro)
|
rs2548537534
|
|
NM_000548.5(TSC2):c.1186G>C (p.Asp396His)
|
rs1596303501
|
|
NM_000548.5(TSC2):c.1192A>G (p.Asn398Asp)
|
rs2548537658
|
|
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys)
|
rs773920155
|
|
NM_000548.5(TSC2):c.1204G>A (p.Gly402Arg)
|
rs771561593
|
|
NM_000548.5(TSC2):c.120del (p.Thr41fs)
|
rs397515085
|
|
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter)
|
rs45457701
|
|
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.1219T>G (p.Tyr407Asp)
|
rs45517156
|
|
NM_000548.5(TSC2):c.1220A>G (p.Tyr407Cys)
|
rs1596303621
|
|
NM_000548.5(TSC2):c.1220_1221del (p.Tyr407fs)
|
rs137854080
|
|
NM_000548.5(TSC2):c.1220_1240del (p.Tyr407_Arg413del)
|
rs137853998
|
|
NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter)
|
rs397514897
|
|
NM_000548.5(TSC2):c.1224del (p.Phe408fs)
|
rs137854089
|
|
NM_000548.5(TSC2):c.1224dup (p.Glu409Ter)
|
rs137854089
|
|
NM_000548.5(TSC2):c.1226_1230del (p.Glu409fs)
|
rs137854127
|
|
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)
|
rs137854298
|
|
NM_000548.5(TSC2):c.1234del (p.Glu412fs)
|
rs397515027
|
|
NM_000548.5(TSC2):c.1235A>T (p.Glu412Val)
|
rs137854026
|
|
NM_000548.5(TSC2):c.1246G>T (p.Asp416Tyr)
|
rs45517157
|
|
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter)
|
rs45517158
|
|
NM_000548.5(TSC2):c.1254G>T (p.Arg418Ser)
|
rs767670580
|
|
NM_000548.5(TSC2):c.1254del (p.Arg418fs)
|
rs2548538848
|
|
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser)
|
rs45517159
|
|
NM_000548.5(TSC2):c.1257+107dup
|
rs397514987
|
|
NM_000548.5(TSC2):c.1257+11del
|
rs2548539096
|
|
NM_000548.5(TSC2):c.1257+1G>A
|
rs397515066
|
|
NM_000548.5(TSC2):c.1257+21G>A
|
rs397514998
|
|
NM_000548.5(TSC2):c.1257+221_1257+226del
|
rs137854370
|
|
NM_000548.5(TSC2):c.1257+2T>C
|
rs45509697
|
|
NM_000548.5(TSC2):c.1257+2T>G
|
rs45509697
|
|
NM_000548.5(TSC2):c.1258-1G>A
|
rs397515182
|
|
NM_000548.5(TSC2):c.1258-2A>C
|
rs45517160
|
|
NM_000548.5(TSC2):c.1258-30G>T
|
rs397515172
|
|
NM_000548.5(TSC2):c.1258-32C>G
|
rs137854285
|
|
NM_000548.5(TSC2):c.1258-3C>G
|
rs45517161
|
|
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter)
|
rs796053484
|
|
NM_000548.5(TSC2):c.1266_1267del (p.Leu423fs)
|
rs137854238
|
|
NM_000548.5(TSC2):c.1270C>A (p.Leu424Met)
|
rs1053117188
|
|
NM_000548.5(TSC2):c.1281C>G (p.Ile427Met)
|
rs45478892
|
|
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del)
|
rs137853983
|
|
NM_000548.5(TSC2):c.1287T>G (p.Tyr429Ter)
|
rs45493394
|
|
NM_000548.5(TSC2):c.1290A>C (p.Arg430Ser)
|
rs2548545805
|
|
NM_000548.5(TSC2):c.1303C>A (p.His435Asn)
|
rs760896048
|
|
NM_000548.5(TSC2):c.1307C>A (p.Pro436Gln)
|
rs796053485
|
|
NM_000548.5(TSC2):c.1308G>C (p.Pro436=)
|
rs753764275
|
|
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu)
|
rs777457815
|
|
NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter)
|
rs45515894
|
|
NM_000548.5(TSC2):c.1332C>G (p.Asn444Lys)
|
rs535984356
|
|
NM_000548.5(TSC2):c.1336C>T (p.Gln446Ter)
|
rs45517163
|
|
NM_000548.5(TSC2):c.1337_1340dup (p.Leu448fs)
|
rs137854318
|
|
NM_000548.5(TSC2):c.1337del (p.Gln446fs)
|
rs137854311
|
|
NM_000548.5(TSC2):c.133C>T (p.Leu45=)
|
rs1555494707
|
|
NM_000548.5(TSC2):c.133_136del (p.Leu45fs)
|
rs137854360
|
|
NM_000548.5(TSC2):c.1341G>T (p.Ala447=)
|
rs141609319
|
|
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro)
|
rs397515206
|
|
NM_000548.5(TSC2):c.1347G>C (p.Met449Ile)
|
rs45443091
|
|
NM_000548.5(TSC2):c.1348G>A (p.Glu450Lys)
|
rs45491095
|
|
NM_000548.5(TSC2):c.1348G>T (p.Glu450Ter)
|
rs45491095
|
|
NM_000548.5(TSC2):c.1352_1353del (p.Arg451fs)
|
rs397515082
|
|
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.1361+1G>A
|
rs45517164
|
|
NM_000548.5(TSC2):c.1361+2T>C
|
rs397515301
|
|
NM_000548.5(TSC2):c.1361+2T>G
|
rs397515301
|
|
NM_000548.5(TSC2):c.1361+54_1361+57del
|
rs137854304
|
|
NM_000548.5(TSC2):c.1361+8del
|
rs746102053
|
|
NM_000548.5(TSC2):c.1362-10C>A
|
rs45446697
|
|
NM_000548.5(TSC2):c.1362-2A>G
|
rs45517165
|
|
NM_000548.5(TSC2):c.1362-30dup
|
rs137853980
|
|
NM_000548.5(TSC2):c.1362-4G>A
|
rs397515145
|
|
NM_000548.5(TSC2):c.1362-5del
|
rs2086819893
|
|
NM_000548.5(TSC2):c.1362-62G>C
|
rs45517167
|
|
NM_000548.5(TSC2):c.1362G>A (p.Arg454=)
|
rs374252944
|
|
NM_000548.5(TSC2):c.1362G>C (p.Arg454Ser)
|
rs374252944
|
|
NM_000548.5(TSC2):c.1367A>G (p.Glu456Gly)
|
rs876659386
|
|
NM_000548.5(TSC2):c.1369T>A (p.Ser457Thr)
|
rs2151170866
|
|
NM_000548.5(TSC2):c.136A>T (p.Arg46Ter)
|
rs137854266
|
|
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)
|
rs45517169
|
|
NM_000548.5(TSC2):c.1375G>T (p.Gly459Cys)
|
rs1567432890
|
|
NM_000548.5(TSC2):c.1376G>A (p.Gly459Asp)
|
rs886051788
|
|
NM_000548.5(TSC2):c.138+14C>G
|
rs201204330
|
|
NM_000548.5(TSC2):c.138+1G>A
|
rs45517091
|
|
NM_000548.5(TSC2):c.138+2T>C
|
rs137854226
|
|
NM_000548.5(TSC2):c.138+2_138+3del
|
rs397515056
|
|
NM_000548.5(TSC2):c.138+5G>A
|
rs45481400
|
|
NM_000548.5(TSC2):c.1383G>A (p.Val461=)
|
rs760393399
|
|
NM_000548.5(TSC2):c.1385G>A (p.Arg462His)
|
rs45494392
|
|
NM_000548.5(TSC2):c.1385_1386delinsCT (p.Arg462Pro)
|
rs137854323
|
|
NM_000548.5(TSC2):c.1385_1386dup (p.Ile463fs)
|
rs397515037
|
|
NM_000548.5(TSC2):c.138_138+1del
|
rs137854117
|
|
NM_000548.5(TSC2):c.139-11TC[3]
|
rs758181221
|
|
NM_000548.5(TSC2):c.1391A>G (p.Lys464Arg)
|
rs1033108057
|
|
NM_000548.5(TSC2):c.1393G>T (p.Val465Leu)
|
rs758874054
|
|
NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro)
|
rs45481199
|
|
NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg)
|
rs45481199
|
|
NM_000548.5(TSC2):c.139_140del (p.Glu47fs)
|
rs137853979
|
|
NM_000548.5(TSC2):c.1407del (p.Ser470fs)
|
rs137854390
|
|
NM_000548.5(TSC2):c.1410del (p.Phe471fs)
|
rs137854066
|
|
NM_000548.5(TSC2):c.1419G>T (p.Leu473=)
|
rs1365563478
|
|
NM_000548.5(TSC2):c.141A>T (p.Glu47Asp)
|
rs137854133
|
|
NM_000548.5(TSC2):c.1425del (p.Asn476fs)
|
rs397515234
|
|
NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter)
|
rs121964862
|
|
NM_000548.5(TSC2):c.1435T>C (p.Phe479Leu)
|
rs2151173141
|
|
NM_000548.5(TSC2):c.1440T>G (p.Tyr480Ter)
|
rs45514794
|
|
NM_000548.5(TSC2):c.1443+1G>T
|
rs397515257
|
|
NM_000548.5(TSC2):c.1443+2T>G
|
rs397515064
|
|
NM_000548.5(TSC2):c.1443+4C>G
|
rs45517172
|
|
NM_000548.5(TSC2):c.1443G>A (p.Glu481=)
|
rs137854876
|
|
NM_000548.5(TSC2):c.1444-12G>A
|
rs566516726
|
|
NM_000548.5(TSC2):c.1444-14T>C
|
rs45517173
|
|
NM_000548.5(TSC2):c.1444-15C>T
|
rs781524288
|
|
NM_000548.5(TSC2):c.1444-1G>A
|
rs45515902
|
|
NM_000548.5(TSC2):c.1444-1G>T
|
rs45515902
|
|
NM_000548.5(TSC2):c.1444-2A>G
|
rs45517174
|
|
NM_000548.5(TSC2):c.1447G>C (p.Glu483Gln)
|
rs397515297
|
|
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter)
|
rs397515297
|
|
NM_000548.5(TSC2):c.1457A>T (p.Asn486Ile)
|
rs45486599
|
|
NM_000548.5(TSC2):c.1468A>G (p.Ile490Val)
|
rs45517175
|
|
NM_000548.5(TSC2):c.1470C>G (p.Ile490Met)
|
rs753344988
|
|
NM_000548.5(TSC2):c.1472C>A (p.Ser491Ter)
|
rs45517176
|
|
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val)
|
rs45517177
|
|
NM_000548.5(TSC2):c.1478T>C (p.Leu493Pro)
|
rs397515029
|
|
NM_000548.5(TSC2):c.1479C>T (p.Leu493=)
|
rs137854145
|
|
NM_000548.5(TSC2):c.1491del (p.Glu498fs)
|
rs137854346
|
|
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys)
|
rs45517178
|
|
NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter)
|
rs45517178
|
|
NM_000548.5(TSC2):c.1505del (p.His502fs)
|
rs397514948
|
|
NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter)
|
rs397514929
|
|
NM_000548.5(TSC2):c.1508del (p.Gln503fs)
|
rs397514993
|
|
NM_000548.5(TSC2):c.1508dup (p.Val504fs)
|
rs397515210
|
|
NM_000548.5(TSC2):c.1513C>G (p.Arg505Gly)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1520T>C (p.Leu507Pro)
|
rs1413063599
|
|
NM_000548.5(TSC2):c.1525A>G (p.Thr509Ala)
|
rs1042656602
|
|
NM_000548.5(TSC2):c.153A>C (p.Glu51Asp)
|
rs746366461
|
|
NM_000548.5(TSC2):c.1546del (p.Ala516fs)
|
rs397515272
|
|
NM_000548.5(TSC2):c.1553G>T (p.Gly518Val)
|
rs1229407025
|
|
NM_000548.5(TSC2):c.1555del (p.Cys519fs)
|
rs137854275
|
|
NM_000548.5(TSC2):c.1556G>C (p.Cys519Ser)
|
rs2151191042
|
|
NM_000548.5(TSC2):c.1557C>T (p.Cys519=)
|
rs2548571987
|
|
NM_000548.5(TSC2):c.1563dup (p.His522fs)
|
rs137854023
|
|
NM_000548.5(TSC2):c.1564C>T (p.His522Tyr)
|
rs397514991
|
|
NM_000548.5(TSC2):c.1564del (p.His522fs)
|
rs137854297
|
|
NM_000548.5(TSC2):c.1564dup (p.His522fs)
|
rs397515016
|
|
NM_000548.5(TSC2):c.1565A>C (p.His522Pro)
|
rs397515147
|
|
NM_000548.5(TSC2):c.1566C>G (p.His522Gln)
|
rs876659982
|
|
NM_000548.5(TSC2):c.1566_1567dup (p.His523fs)
|
rs397514961
|
|
NM_000548.5(TSC2):c.1567C>T (p.His523Tyr)
|
rs1567438108
|
|
NM_000548.5(TSC2):c.1569C>T (p.His523=)
|
rs1420211177
|
|
NM_000548.5(TSC2):c.1579C>T (p.Leu527=)
|
rs762173463
|
|
NM_000548.5(TSC2):c.1579_1582del (p.Leu527fs)
|
rs137854246
|
|
NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro)
|
rs397514922
|
|
NM_000548.5(TSC2):c.1583_1584del (p.Leu528fs)
|
rs397514885
|
|
NM_000548.5(TSC2):c.1589T>C (p.Ile530Thr)
|
rs2151191974
|
|
NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys)
|
rs149222396
|
|
NM_000548.5(TSC2):c.1599+16C>T
|
rs45517181
|
|
NM_000548.5(TSC2):c.1599+1G>A
|
rs45517182
|
|
NM_000548.5(TSC2):c.1599+1G>T
|
rs45517182
|
|
NM_000548.5(TSC2):c.1599+2T>C
|
rs45517183
|
|
NM_000548.5(TSC2):c.1599+5G>A
|
rs397515100
|
|
NM_000548.5(TSC2):c.1599+82_1599+84del
|
rs397515135
|
|
NM_000548.5(TSC2):c.1599G>A (p.Lys533=)
|
rs1555502589
|
|
NM_000548.5(TSC2):c.1599G>C (p.Lys533Asn)
|
rs1555502589
|
|
NM_000548.5(TSC2):c.1600-13C>G
|
rs1800712
|
|
NM_000548.5(TSC2):c.1600-14C>A
|
rs45517185
|
|
NM_000548.5(TSC2):c.1600-14C>T
|
rs45517185
|
|
NM_000548.5(TSC2):c.1600-30dup
|
rs397515089
|
|
NM_000548.5(TSC2):c.1600-3A>G
|
rs45517186
|
|
NM_000548.5(TSC2):c.1600-8C>T
|
rs1555503101
|
|
NM_000548.5(TSC2):c.1607C>T (p.Ala536Val)
|
rs45517187
|
|
NM_000548.5(TSC2):c.1610_1622del (p.Arg537fs)
|
rs397515148
|
|
NM_000548.5(TSC2):c.1611C>T (p.Arg537=)
|
rs45469702
|
|
NM_000548.5(TSC2):c.1616_1628del (p.Leu539fs)
|
rs137854281
|
|
NM_000548.5(TSC2):c.1616del (p.Leu539fs)
|
rs137854100
|
|
NM_000548.5(TSC2):c.1619C>T (p.Ser540Phe)
|
rs1296271407
|
|
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.1624C>A (p.Pro542Thr)
|
rs891347695
|
|
NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu)
|
rs764191178
|
|
NM_000548.5(TSC2):c.1626C>A (p.Pro542=)
|
rs376234285
|
|
NM_000548.5(TSC2):c.1628dup (p.Glu544fs)
|
rs397515204
|
|
NM_000548.5(TSC2):c.1630del (p.Glu544fs)
|
rs397514931
|
|
NM_000548.5(TSC2):c.1632G>T (p.Glu544Asp)
|
rs137854075
|
|
NM_000548.5(TSC2):c.1633C>T (p.Leu545=)
|
rs1060504103
|
|
NM_000548.5(TSC2):c.1642_1643del (p.Arg548fs)
|
rs137854342
|
|
NM_000548.5(TSC2):c.1643G>A (p.Arg548Lys)
|
rs748938385
|
|
NM_000548.5(TSC2):c.1643G>C (p.Arg548Thr)
|
rs748938385
|
|
NM_000548.5(TSC2):c.1649_1650insACAT (p.Ala551fs)
|
rs137854245
|
|
NM_000548.5(TSC2):c.1653C>G (p.Ala551=)
|
rs202171361
|
|
NM_000548.5(TSC2):c.165C>G (p.Asn55Lys)
|
rs1596245687
|
|
NM_000548.5(TSC2):c.1660T>C (p.Ser554Pro)
|
rs1596317415
|
|
NM_000548.5(TSC2):c.1661C>A (p.Ser554Ter)
|
rs45471596
|
|
NM_000548.5(TSC2):c.1663G>C (p.Ala555Pro)
|
rs763183991
|
|
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.1693del (p.Leu565fs)
|
rs137854087
|
|
NM_000548.5(TSC2):c.1698_1716+1del
|
rs397515151
|
|
NM_000548.5(TSC2):c.1699C>T (p.Leu567Phe)
|
rs2087240694
|
|
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.1708_1710dup (p.Ile570dup)
|
rs137854041
|
|
NM_000548.5(TSC2):c.1712T>C (p.Leu571Pro)
|
rs397515093
|
|
NM_000548.5(TSC2):c.1715A>C (p.Gln572Pro)
|
rs1596317664
|
|
NM_000548.5(TSC2):c.1716+10C>A
|
rs45464995
|
|
NM_000548.5(TSC2):c.1716+1G>A
|
rs45517190
|
|
NM_000548.5(TSC2):c.1716+5del
|
rs137854417
|
|
NM_000548.5(TSC2):c.1716G>A (p.Gln572=)
|
rs397514917
|
|
NM_000548.5(TSC2):c.1717-1G>A
|
rs45517192
|
|
NM_000548.5(TSC2):c.1717-1G>T
|
rs45517192
|
|
NM_000548.5(TSC2):c.1717-23T>G
|
rs45517193
|
|
NM_000548.5(TSC2):c.1717-60_1840-201del
|
rs2088100689
|
|
NM_000548.5(TSC2):c.171del (p.Ile58fs)
|
rs397515042
|
|
NM_000548.5(TSC2):c.1729A>T (p.Thr577Ser)
|
rs1204749633
|
|
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala)
|
rs45517196
|
|
NM_000548.5(TSC2):c.1736C>T (p.Pro579Leu)
|
rs1471786715
|
|
NM_000548.5(TSC2):c.1737_1814del (p.Ala580_Pro605del)
|
rs137854373
|
|
NM_000548.5(TSC2):c.1739C>T (p.Ala580Val)
|
rs765043471
|
|
NM_000548.5(TSC2):c.1741dup (p.Ser581fs)
|
rs137854348
|
|
NM_000548.5(TSC2):c.1742G>A (p.Ser581Asn)
|
rs45517197
|
|
NM_000548.5(TSC2):c.1748C>T (p.Ala583Val)
|
rs763863196
|
|
NM_000548.5(TSC2):c.1758G>A (p.Val586=)
|
rs1555505092
|
|
NM_000548.5(TSC2):c.1758_1759dup (p.Tyr587fs)
|
rs397515116
|
|
NM_000548.5(TSC2):c.1759T>C (p.Tyr587His)
|
rs1555505094
|
|
NM_000548.5(TSC2):c.1760A>G (p.Tyr587Cys)
|
rs1487642536
|
|
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer)
|
rs137854371
|
|
NM_000548.5(TSC2):c.1769T>C (p.Leu590Pro)
|
rs137854229
|
|
NM_000548.5(TSC2):c.1771G>A (p.Val591Ile)
|
rs984275273
|
|
NM_000548.5(TSC2):c.1771del (p.Val591fs)
|
rs137854418
|
|
NM_000548.5(TSC2):c.1777C>T (p.His593Tyr)
|
rs1555505123
|
|
NM_000548.5(TSC2):c.1778A>G (p.His593Arg)
|
rs45517198
|
|
NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter)
|
rs45517199
|
|
NM_000548.5(TSC2):c.1784A>C (p.Gln595Pro)
|
rs781087045
|
|
NM_000548.5(TSC2):c.1787T>C (p.Leu596Pro)
|
rs45517200
|
|
NM_000548.5(TSC2):c.1789C>T (p.His597Tyr)
|
rs397515246
|
|
NM_000548.5(TSC2):c.1789_1791dup (p.His597dup)
|
rs397514965
|
|
NM_000548.5(TSC2):c.1790A>G (p.His597Arg)
|
rs137854322
|
|
NM_000548.5(TSC2):c.1791_1795del (p.His597fs)
|
rs137854165
|
|
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His)
|
rs45517201
|
|
NM_000548.5(TSC2):c.1792_1794del (p.Tyr598del)
|
rs397515083
|
|
NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys)
|
rs45509791
|
|
NM_000548.5(TSC2):c.1793A>T (p.Tyr598Phe)
|
rs45509791
|
|
NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter)
|
rs45509094
|
|
NM_000548.5(TSC2):c.1796A>T (p.Lys599Met)
|
rs45517202
|
|
NM_000548.5(TSC2):c.1796del (p.Lys599fs)
|
rs137854125
|
|
NM_000548.5(TSC2):c.1804dup (p.Tyr602fs)
|
rs397515132
|
|
NM_000548.5(TSC2):c.1808C>G (p.Thr603Ser)
|
rs1318655892
|
|
NM_000548.5(TSC2):c.1814C>T (p.Pro605Leu)
|
rs1555505178
|
|
NM_000548.5(TSC2):c.1819G>T (p.Ala607Ser)
|
rs45517203
|
|
NM_000548.5(TSC2):c.1820C>A (p.Ala607Glu)
|
rs397515296
|
|
NM_000548.5(TSC2):c.1821G>C (p.Ala607=)
|
rs149543046
|
|
NM_000548.5(TSC2):c.1823GCA[3] (p.Ser609dup)
|
rs137854260
|
|
NM_000548.5(TSC2):c.1831C>G (p.Arg611Gly)
|
rs45469298
|
|
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.1837C>T (p.Gln613Ter)
|
rs45480292
|
|
NM_000548.5(TSC2):c.1838A>G (p.Gln613Arg)
|
rs2151282389
|
|
NM_000548.5(TSC2):c.1839+1G>A
|
rs45438400
|
|
NM_000548.5(TSC2):c.1839+1G>C
|
rs45438400
|
|
NM_000548.5(TSC2):c.1839+1G>T
|
rs45438400
|
|
NM_000548.5(TSC2):c.1839+5G>C
|
rs200568460
|
|
NM_000548.5(TSC2):c.1839+6G>C
|
rs45517204
|
|
NM_000548.5(TSC2):c.1840-11C>T
|
rs754804519
|
|
NM_000548.5(TSC2):c.1840-12T>C
|
rs2088378931
|
|
NM_000548.5(TSC2):c.1840-13C>G
|
rs1186556063
|
|
NM_000548.5(TSC2):c.1840-1G>A
|
rs397514953
|
|
NM_000548.5(TSC2):c.1840-1G>C
|
rs397514953
|
|
NM_000548.5(TSC2):c.1840-2A>G
|
rs45517205
|
|
NM_000548.5(TSC2):c.1840-2A>T
|
rs45517205
|
|
NM_000548.5(TSC2):c.1840-3C>G
|
rs397515154
|
|
NM_000548.5(TSC2):c.1840-4A>C
|
rs1057523736
|
|
NM_000548.5(TSC2):c.1840-4A>G
|
rs1057523736
|
|
NM_000548.5(TSC2):c.1840-6T>A
|
rs747952317
|
|
NM_000548.5(TSC2):c.1840G>T (p.Ala614Ser)
|
rs397515199
|
|
NM_000548.5(TSC2):c.1841C>A (p.Ala614Asp)
|
rs45454398
|
|
NM_000548.5(TSC2):c.1841C>G (p.Ala614Gly)
|
rs45454398
|
|
NM_000548.5(TSC2):c.1843T>G (p.Phe615Val)
|
rs1446136662
|
|
NM_000548.5(TSC2):c.1844T>C (p.Phe615Ser)
|
rs45481105
|
|
NM_000548.5(TSC2):c.1844_1845del (p.Ala614_Phe615insTer)
|
rs137854248
|
|
NM_000548.5(TSC2):c.1848C>T (p.Asp616=)
|
|
|
NM_000548.5(TSC2):c.1851C>G (p.Phe617Leu)
|
rs1446662814
|
|
NM_000548.5(TSC2):c.1856T>A (p.Leu619Ter)
|
rs2543673284
|
|
NM_000548.5(TSC2):c.1856TGC[2] (p.Leu621del)
|
rs397515195
|
|
NM_000548.5(TSC2):c.185G>A (p.Gly62Glu)
|
rs397515045
|
|
NM_000548.5(TSC2):c.1862T>C (p.Leu621Pro)
|
rs397514927
|
|
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)
|
rs397514914
|
|
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro)
|
rs45517206
|
|
NM_000548.5(TSC2):c.1869C>G (p.Ala623=)
|
rs111244727
|
|
NM_000548.5(TSC2):c.1869C>T (p.Ala623=)
|
rs111244727
|
|
NM_000548.5(TSC2):c.1872delinsTT (p.Ser625fs)
|
rs397515017
|
|
NM_000548.5(TSC2):c.1875A>C (p.Ser625=)
|
rs1555505786
|
|
NM_000548.5(TSC2):c.1875A>G (p.Ser625=)
|
rs1555505786
|
|
NM_000548.5(TSC2):c.1875_1876del (p.Leu626fs)
|
rs397515073
|
|
NM_000548.5(TSC2):c.1879C>T (p.His627Tyr)
|
rs2151297114
|
|
NM_000548.5(TSC2):c.187C>T (p.Gln63Ter)
|
rs397515039
|
|
NM_000548.5(TSC2):c.187del (p.Gln63fs)
|
rs397514903
|
|
NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly)
|
rs45437797
|
|
NM_000548.5(TSC2):c.1885C>G (p.Leu629Val)
|
rs570409651
|
|
NM_000548.5(TSC2):c.1885C>T (p.Leu629=)
|
rs570409651
|
|
NM_000548.5(TSC2):c.1889_1893delinsATGCA (p.Gly630_Leu631delinsAspAla)
|
rs397515215
|
|
NM_000548.5(TSC2):c.1893dup (p.Pro632fs)
|
rs397515032
|
|
NM_000548.5(TSC2):c.1895C>G (p.Pro632Arg)
|
rs750663771
|
|
NM_000548.5(TSC2):c.189G>T (p.Gln63His)
|
rs2150996416
|
|
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.1909_1912del (p.Val637fs)
|
rs137854069
|
|
NM_000548.5(TSC2):c.190A>G (p.Ile64Val)
|
rs397515081
|
|
NM_000548.5(TSC2):c.1912G>A (p.Val638Met)
|
rs587778730
|
|
NM_000548.5(TSC2):c.1912G>T (p.Val638Leu)
|
rs587778730
|
|
NM_000548.5(TSC2):c.1925C>A (p.Pro642His)
|
rs1408228669
|
|
NM_000548.5(TSC2):c.1927dup (p.Tyr643fs)
|
rs137854339
|
|
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile)
|
rs746677177
|
|
NM_000548.5(TSC2):c.1933G>C (p.Val645Leu)
|
rs746677177
|
|
NM_000548.5(TSC2):c.1934dup (p.Cys646fs)
|
rs397515019
|
|
NM_000548.5(TSC2):c.193del (p.Cys65fs)
|
rs397515080
|
|
NM_000548.5(TSC2):c.1942dup (p.Tyr648fs)
|
rs137854151
|
|
NM_000548.5(TSC2):c.1944del (p.Asp647_Tyr648insTer)
|
rs137854096
|
|
NM_000548.5(TSC2):c.1946+1G>C
|
rs397514994
|
|
NM_000548.5(TSC2):c.1946+2T>C
|
rs397515247
|
|
NM_000548.5(TSC2):c.1946+5G>T
|
rs766646261
|
|
NM_000548.5(TSC2):c.1947-1G>A
|
rs397515310
|
|
NM_000548.5(TSC2):c.1947-2A>G
|
rs45517207
|
|
NM_000548.5(TSC2):c.1947-4G>A
|
rs201633455
|
|
NM_000548.5(TSC2):c.1947-7T>C
|
rs45450193
|
|
NM_000548.5(TSC2):c.1959_1960del (p.Gly654fs)
|
rs137854144
|
|
NM_000548.5(TSC2):c.1959_1960dup (p.Gly654fs)
|
rs137854144
|
|
NM_000548.5(TSC2):c.1960G>T (p.Gly654Cys)
|
rs397515114
|
|
NM_000548.5(TSC2):c.1960_1961del (p.Gly654fs)
|
rs137854349
|
|
NM_000548.5(TSC2):c.1965dup (p.Glu656Ter)
|
rs137854082
|
|
NM_000548.5(TSC2):c.1967AGA[2] (p.Lys658del)
|
rs137854104
|
|
NM_000548.5(TSC2):c.1969A>T (p.Lys657Ter)
|
rs45488199
|
|
NM_000548.5(TSC2):c.196G>T (p.Glu66Ter)
|
rs45517094
|
|
NM_000548.5(TSC2):c.1971G>C (p.Lys657Asn)
|
rs1596344117
|
|
NM_000548.5(TSC2):c.1975_1981del (p.Thr659fs)
|
rs137854124
|
|
NM_000548.5(TSC2):c.1981G>C (p.Gly661Arg)
|
rs137854168
|
|
NM_000548.5(TSC2):c.1982_1983delinsTT (p.Gly661Val)
|
rs137854103
|
|
NM_000548.5(TSC2):c.1987del (p.Leu663fs)
|
rs137854310
|
|
NM_000548.5(TSC2):c.1987dup (p.Leu663fs)
|
rs137854310
|
|
NM_000548.5(TSC2):c.1991C>A (p.Ser664Tyr)
|
rs991714565
|
|
NM_000548.5(TSC2):c.1996C>T (p.Pro666Ser)
|
rs2151305388
|
|
NM_000548.5(TSC2):c.19A>T (p.Lys7Ter)
|
rs397514951
|
|
NM_000548.5(TSC2):c.2001A>G (p.Thr667=)
|
rs1412129753
|
|
NM_000548.5(TSC2):c.2005C>A (p.Pro669Thr)
|
rs2151305683
|
|
NM_000548.5(TSC2):c.2008C>G (p.Pro670Ala)
|
rs1338802781
|
|
NM_000548.5(TSC2):c.2012G>A (p.Gly671Asp)
|
rs775881847
|
|
NM_000548.5(TSC2):c.2016G>A (p.Pro672=)
|
rs774517903
|
|
NM_000548.5(TSC2):c.2017G>C (p.Ala673Pro)
|
rs2151306062
|
|
NM_000548.5(TSC2):c.2020C>T (p.Pro674Ser)
|
rs760566516
|
|
NM_000548.5(TSC2):c.2024C>T (p.Ala675Val)
|
rs1261337087
|
|
NM_000548.5(TSC2):c.2024_2042del (p.Ala675fs)
|
rs137854309
|
|
NM_000548.5(TSC2):c.202G>C (p.Ala68Pro)
|
rs767626323
|
|
NM_000548.5(TSC2):c.2031dup (p.Ala678fs)
|
rs397515050
|
|
NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu)
|
rs756536921
|
|
NM_000548.5(TSC2):c.2045G>T (p.Gly682Val)
|
|
|
NM_000548.5(TSC2):c.2046G>T (p.Gly682=)
|
rs749536123
|
|
NM_000548.5(TSC2):c.2046del (p.Ser683fs)
|
rs397515287
|
|
NM_000548.5(TSC2):c.2047T>G (p.Ser683Ala)
|
rs878854080
|
|
NM_000548.5(TSC2):c.2049C>A (p.Ser683=)
|
rs569518378
|
|
NM_000548.5(TSC2):c.2050del (p.Val684fs)
|
rs397515141
|
|
NM_000548.5(TSC2):c.2052G>A (p.Val684=)
|
rs2543704731
|
|
NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs)
|
rs137854337
|
|
NM_000548.5(TSC2):c.205A>T (p.Lys69Ter)
|
rs45517095
|
|
NM_000548.5(TSC2):c.2060C>T (p.Ser687Phe)
|
rs1455799897
|
|
NM_000548.5(TSC2):c.2061C>A (p.Ser687=)
|
rs1596344926
|
|
NM_000548.5(TSC2):c.2061_2067del (p.Leu688fs)
|
rs137854211
|
|
NM_000548.5(TSC2):c.2067C>T (p.Leu689=)
|
rs1060504107
|
|
NM_000548.5(TSC2):c.2071C>G (p.Arg691Gly)
|
rs760489473
|
|
NM_000548.5(TSC2):c.2071del (p.Arg691fs)
|
rs137854071
|
|
NM_000548.5(TSC2):c.2072G>A (p.Arg691His)
|
rs370553131
|
|
NM_000548.5(TSC2):c.2073C>A (p.Arg691=)
|
rs45512398
|
|
NM_000548.5(TSC2):c.2073_2074dup (p.Val692fs)
|
rs397515197
|
|
NM_000548.5(TSC2):c.2074del (p.Val692fs)
|
rs137854419
|
|
NM_000548.5(TSC2):c.2078T>C (p.Leu693Pro)
|
rs45488191
|
|
NM_000548.5(TSC2):c.2078TGC[1] (p.Leu694del)
|
rs137854234
|
|
NM_000548.5(TSC2):c.2082G>T (p.Leu694=)
|
rs45458592
|
|
NM_000548.5(TSC2):c.2082_2083delinsTT (p.Gln695Ter)
|
rs137854362
|
|
NM_000548.5(TSC2):c.2083C>T (p.Gln695Ter)
|
rs45517209
|
|
NM_000548.5(TSC2):c.2086T>C (p.Cys696Arg)
|
rs45483301
|
|
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr)
|
rs45486196
|
|
NM_000548.5(TSC2):c.2087_2088insAA (p.Cys696Ter)
|
rs137854319
|
|
NM_000548.5(TSC2):c.2088C>A (p.Cys696Ter)
|
rs137854217
|
|
NM_000548.5(TSC2):c.2089T>C (p.Leu697=)
|
rs1596345177
|
|
NM_000548.5(TSC2):c.2089_2090dup (p.Leu697fs)
|
rs137854189
|
|
NM_000548.5(TSC2):c.2090dup (p.Leu697fs)
|
rs137854189
|
|
NM_000548.5(TSC2):c.2091G>T (p.Leu697Phe)
|
rs2151308956
|
|
NM_000548.5(TSC2):c.2094G>C (p.Lys698Asn)
|
rs752256613
|
|
NM_000548.5(TSC2):c.2095C>T (p.Gln699Ter)
|
rs45517210
|
|
NM_000548.5(TSC2):c.2096A>G (p.Gln699Arg)
|
rs1596345229
|
|
NM_000548.5(TSC2):c.2097+12C>T
|
rs137854029
|
|
NM_000548.5(TSC2):c.2098-14T>C
|
rs551711987
|
|
NM_000548.5(TSC2):c.2098-19A>G
|
rs397515091
|
|
NM_000548.5(TSC2):c.2098-1G>A
|
rs45517212
|
|
NM_000548.5(TSC2):c.2098-2A>G
|
rs45501596
|
|
NM_000548.5(TSC2):c.2098-5C>G
|
rs369072310
|
|
NM_000548.5(TSC2):c.2098G>A (p.Glu700Lys)
|
rs45496402
|
|
NM_000548.5(TSC2):c.2103_2105dup (p.Asp702dup)
|
rs137854265
|
|
NM_000548.5(TSC2):c.2103dup (p.Asp702Ter)
|
rs137854320
|
|
NM_000548.5(TSC2):c.2104G>A (p.Asp702Asn)
|
rs2151315707
|
|
NM_000548.5(TSC2):c.2106dup (p.Trp703fs)
|
rs137854183
|
|
NM_000548.5(TSC2):c.2107dup (p.Trp703fs)
|
rs397515047
|
|
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter)
|
rs45517213
|
|
NM_000548.5(TSC2):c.2109G>A (p.Trp703Ter)
|
rs45462192
|
|
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)
|
rs397515241
|
|
NM_000548.5(TSC2):c.2114T>A (p.Val705Glu)
|
rs397515068
|
|
NM_000548.5(TSC2):c.2114T>C (p.Val705Ala)
|
rs397515068
|
|
NM_000548.5(TSC2):c.2119A>G (p.Lys707Glu)
|
rs1596347145
|
|
NM_000548.5(TSC2):c.2123T>C (p.Leu708Pro)
|
rs876659689
|
|
NM_000548.5(TSC2):c.2127del (p.Leu710fs)
|
rs397515178
|
|
NM_000548.5(TSC2):c.2132G>C (p.Gly711Ala)
|
|
|
NM_000548.5(TSC2):c.2134A>G (p.Arg712Gly)
|
rs2151316730
|
|
NM_000548.5(TSC2):c.2139G>C (p.Leu713=)
|
rs757293747
|
|
NM_000548.5(TSC2):c.2142_2157del (p.Glu715fs)
|
rs137854201
|
|
NM_000548.5(TSC2):c.2145_2158dup (p.Lys720fs)
|
rs137854358
|
|
NM_000548.5(TSC2):c.2146T>G (p.Ser716Ala)
|
rs1203066126
|
|
NM_000548.5(TSC2):c.2148C>T (p.Ser716=)
|
|
|
NM_000548.5(TSC2):c.2148_2149insGAGTCCC (p.Leu717fs)
|
rs397514883
|
|
NM_000548.5(TSC2):c.2149del (p.Leu717fs)
|
rs397514967
|
|
NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg)
|
rs45517214
|
|
NM_000548.5(TSC2):c.2161G>A (p.Val721Met)
|
rs768261185
|
|
NM_000548.5(TSC2):c.2163del (p.Leu722fs)
|
rs137854109
|
|
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val)
|
rs764725850
|
|
NM_000548.5(TSC2):c.2172_2176del (p.Thr725fs)
|
rs137854216
|
|
NM_000548.5(TSC2):c.2178C>T (p.Ser726=)
|
rs1380835459
|
|
NM_000548.5(TSC2):c.2182del (p.Cys728fs)
|
rs137854032
|
|
NM_000548.5(TSC2):c.2183G>T (p.Cys728Phe)
|
rs397514908
|
|
NM_000548.5(TSC2):c.2183dup (p.Cys728fs)
|
rs397515280
|
|
NM_000548.5(TSC2):c.2184C>T (p.Cys728=)
|
rs1555506557
|
|
NM_000548.5(TSC2):c.2193C>T (p.Asp731=)
|
rs760053529
|
|
NM_000548.5(TSC2):c.2194C>A (p.Gln732Lys)
|
rs45517216
|
|
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter)
|
rs45517216
|
|
NM_000548.5(TSC2):c.2197C>G (p.Leu733Val)
|
rs397515163
|
|
NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro)
|
rs45517217
|
|
NM_000548.5(TSC2):c.2199_2203del (p.Ala736fs)
|
rs397515090
|
|
NM_000548.5(TSC2):c.21del (p.Asp8fs)
|
rs137854019
|
|
NM_000548.5(TSC2):c.2202C>T (p.Cys734=)
|
rs2151319241
|
|
NM_000548.5(TSC2):c.2203T>G (p.Ser735Ala)
|
rs753059579
|
|
NM_000548.5(TSC2):c.2206_2210dup (p.Cys738fs)
|
rs137854247
|
|
NM_000548.5(TSC2):c.2209C>T (p.Leu737Phe)
|
rs1485034650
|
|
NM_000548.5(TSC2):c.2210T>C (p.Leu737Pro)
|
rs45464093
|
|
NM_000548.5(TSC2):c.2211C>T (p.Leu737=)
|
rs369851248
|
|
NM_000548.5(TSC2):c.221A>G (p.Glu74Gly)
|
rs2084968438
|
|
NM_000548.5(TSC2):c.2220+1G>A
|
rs137854361
|
|
NM_000548.5(TSC2):c.2220+1G>T
|
rs137854361
|
|
NM_000548.5(TSC2):c.2220+2T>G
|
rs397515121
|
|
NM_000548.5(TSC2):c.2220+32del
|
rs137854354
|
|
NM_000548.5(TSC2):c.2220+3A>C
|
rs397515133
|
|
NM_000548.5(TSC2):c.2221-1G>C
|
rs45517218
|
|
NM_000548.5(TSC2):c.2221-2A>C
|
rs45502196
|
|
NM_000548.5(TSC2):c.2221-2A>G
|
rs45502196
|
|
NM_000548.5(TSC2):c.2221-7T>G
|
rs45517219
|
|
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe)
|
rs886051789
|
|
NM_000548.5(TSC2):c.2225C>G (p.Ser742Ter)
|
rs45517220
|
|
NM_000548.5(TSC2):c.2230C>G (p.Pro744Ala)
|
rs1596350020
|
|
NM_000548.5(TSC2):c.2231C>G (p.Pro744Arg)
|
rs774759789
|
|
NM_000548.5(TSC2):c.2231del (p.Pro744fs)
|
rs397515218
|
|
NM_000548.5(TSC2):c.2233_2234del (p.Lys745fs)
|
rs137854006
|
|
NM_000548.5(TSC2):c.2235_2236del (p.Lys745fs)
|
rs137854110
|
|
NM_000548.5(TSC2):c.2238A>C (p.Thr746=)
|
rs1060504115
|
|
NM_000548.5(TSC2):c.2239C>A (p.Leu747Met)
|
rs45517221
|
|
NM_000548.5(TSC2):c.2240_2241del (p.Leu747fs)
|
rs137854126
|
|
NM_000548.5(TSC2):c.224A>G (p.Glu75Gly)
|
rs397515049
|
|
NM_000548.5(TSC2):c.225+25AG[3]
|
rs137854167
|
|
NM_000548.5(TSC2):c.225+2T>A
|
rs397515105
|
|
NM_000548.5(TSC2):c.225+2T>G
|
rs397515105
|
|
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)
|
rs45517222
|
|
NM_000548.5(TSC2):c.2254G>T (p.Gly752Cys)
|
rs2151326864
|
|
NM_000548.5(TSC2):c.2257dup (p.Ala753fs)
|
rs397514946
|
|
NM_000548.5(TSC2):c.226-1G>A
|
rs397515134
|
|
NM_000548.5(TSC2):c.226-2A>G
|
rs45517096
|
|
NM_000548.5(TSC2):c.226-32A>G
|
rs137854185
|
|
NM_000548.5(TSC2):c.226-36_226-35del
|
rs397515043
|
|
NM_000548.5(TSC2):c.226-3C>T
|
rs2151025824
|
|
NM_000548.5(TSC2):c.2261del (p.Pro754fs)
|
rs137854021
|
|
NM_000548.5(TSC2):c.2265_2268del (p.Glu755fs)
|
rs2543764309
|
|
NM_000548.5(TSC2):c.226C>T (p.His76Tyr)
|
rs574779350
|
|
NM_000548.5(TSC2):c.2273C>T (p.Ser758Phe)
|
rs45517223
|
|
NM_000548.5(TSC2):c.2277A>G (p.Arg759=)
|
rs45517224
|
|
NM_000548.5(TSC2):c.2280T>C (p.Thr760=)
|
rs2088693411
|
|
NM_000548.5(TSC2):c.2287C>G (p.His763Asp)
|
rs758234726
|
|
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.2294_2295dup (p.Val766fs)
|
rs137854284
|
|
NM_000548.5(TSC2):c.2295C>G (p.Ala765=)
|
rs45509500
|
|
NM_000548.5(TSC2):c.2306T>A (p.Val769Glu)
|
rs45499191
|
|
NM_000548.5(TSC2):c.2313A>G (p.Thr771=)
|
rs876658215
|
|
NM_000548.5(TSC2):c.2315C>A (p.Ala772Glu)
|
rs397514984
|
|
NM_000548.5(TSC2):c.2318T>G (p.Leu773Ter)
|
rs397515276
|
|
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter)
|
rs45517225
|
|
NM_000548.5(TSC2):c.2334C>T (p.Asn778=)
|
rs1320712673
|
|
NM_000548.5(TSC2):c.2338del (p.Leu780fs)
|
rs137854086
|
|
NM_000548.5(TSC2):c.2347del (p.Thr783fs)
|
rs137854385
|
|
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter)
|
rs45517226
|
|
NM_000548.5(TSC2):c.2355+1G>A
|
rs45517227
|
|
NM_000548.5(TSC2):c.2355+2T>C
|
rs45517228
|
|
NM_000548.5(TSC2):c.2355+2_2355+5del
|
rs137854250
|
|
NM_000548.5(TSC2):c.2355+2_2355+5delinsAGGTCAGAGC
|
rs2088709144
|
|
NM_000548.5(TSC2):c.2355G>A (p.Gln785=)
|
rs2088708544
|
|
NM_000548.5(TSC2):c.2356-12T>C
|
rs1388493955
|
|
NM_000548.5(TSC2):c.2356-1G>A
|
rs45481704
|
|
NM_000548.5(TSC2):c.2356-2A>C
|
rs45517229
|
|
NM_000548.5(TSC2):c.2356-52_2357del
|
rs1555507428
|
|
NM_000548.5(TSC2):c.2356-5T>G
|
rs796053488
|
|
NM_000548.5(TSC2):c.2356-6C>T
|
rs2151346147
|
|
NM_000548.5(TSC2):c.2357G>T (p.Arg786Leu)
|
rs796053511
|
|
NM_000548.5(TSC2):c.2359G>T (p.Glu787Ter)
|
rs45517231
|
|
NM_000548.5(TSC2):c.2362A>G (p.Met788Val)
|
|
|
NM_000548.5(TSC2):c.2363T>G (p.Met788Arg)
|
rs45485599
|
|
NM_000548.5(TSC2):c.2363_2377delinsC (p.Met788fs)
|
rs137854061
|
|
NM_000548.5(TSC2):c.2369A>G (p.Tyr790Cys)
|
rs1555507478
|
|
NM_000548.5(TSC2):c.2369_2371del (p.Tyr790del)
|
rs397515224
|
|
NM_000548.5(TSC2):c.2370C>A (p.Tyr790Ter)
|
rs45517232
|
|
NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter)
|
rs45517232
|
|
NM_000548.5(TSC2):c.2373C>T (p.Cys791=)
|
rs2088913508
|
|
NM_000548.5(TSC2):c.2375T>C (p.Leu792Pro)
|
rs137854241
|
|
NM_000548.5(TSC2):c.2375T>G (p.Leu792Arg)
|
rs137854241
|
|
NM_000548.5(TSC2):c.2379G>T (p.Glu793Asp)
|
rs2151347499
|
|
NM_000548.5(TSC2):c.2380C>T (p.Gln794Ter)
|
rs45517233
|
|
NM_000548.5(TSC2):c.2380dup (p.Gln794fs)
|
rs397514995
|
|
NM_000548.5(TSC2):c.2381dup (p.Leu796fs)
|
rs397515282
|
|
NM_000548.5(TSC2):c.2386C>G (p.Leu796Val)
|
rs1596356291
|
|
NM_000548.5(TSC2):c.2389A>T (p.Ile797Phe)
|
rs1240217406
|
|
NM_000548.5(TSC2):c.238G>A (p.Ala80Thr)
|
rs2085359793
|
|
NM_000548.5(TSC2):c.2390T>C (p.Ile797Thr)
|
rs2088916279
|
|
NM_000548.5(TSC2):c.2392del (p.His798fs)
|
rs137854147
|
|
NM_000548.5(TSC2):c.2394C>T (p.His798=)
|
rs547019464
|
|
NM_000548.5(TSC2):c.2397C>T (p.Arg799=)
|
rs2151348621
|
|
NM_000548.5(TSC2):c.2399del (p.Cys800fs)
|
rs137854377
|
|
NM_000548.5(TSC2):c.2399dup (p.Cys800fs)
|
rs137854170
|
|
NM_000548.5(TSC2):c.239_249dup (p.Ala84fs)
|
rs397515158
|
|
NM_000548.5(TSC2):c.2404dup (p.Ser802fs)
|
rs137854182
|
|
NM_000548.5(TSC2):c.2407C>T (p.Gln803Ter)
|
rs45517234
|
|
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg)
|
rs137853995
|
|
NM_000548.5(TSC2):c.2421del (p.Leu808fs)
|
rs2543817109
|
|
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser)
|
rs45489791
|
|
NM_000548.5(TSC2):c.2424_2426delinsT (p.Leu808fs)
|
rs397514911
|
|
NM_000548.5(TSC2):c.2426C>A (p.Ser809Tyr)
|
rs2151350205
|
|
NM_000548.5(TSC2):c.2430dup (p.Cys811fs)
|
rs137853997
|
|
NM_000548.5(TSC2):c.2431T>G (p.Cys811Gly)
|
rs2151350705
|
|
NM_000548.5(TSC2):c.2434A>G (p.Ser812Gly)
|
rs2151350854
|
|
NM_000548.5(TSC2):c.243C>G (p.Leu81=)
|
rs751068235
|
|
NM_000548.5(TSC2):c.2440G>A (p.Glu814Lys)
|
rs45485395
|
|
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu)
|
rs45517236
|
|
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del)
|
rs137854128
|
|
NM_000548.5(TSC2):c.245G>A (p.Trp82Ter)
|
rs397514933
|
|
NM_000548.5(TSC2):c.2461A>T (p.Lys821Ter)
|
rs45517237
|
|
NM_000548.5(TSC2):c.2468dup (p.Pro824fs)
|
rs137853992
|
|
NM_000548.5(TSC2):c.2470_2473del (p.Pro824fs)
|
rs137854206
|
|
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.2477T>C (p.Leu826Pro)
|
rs45517239
|
|
NM_000548.5(TSC2):c.2489T>G (p.Leu830Arg)
|
rs137854047
|
|
NM_000548.5(TSC2):c.2490C>T (p.Leu830=)
|
rs768573698
|
|
NM_000548.5(TSC2):c.2491_2492insAT (p.Thr831fs)
|
rs137854379
|
|
NM_000548.5(TSC2):c.2493G>A (p.Thr831=)
|
rs773645613
|
|
NM_000548.5(TSC2):c.2498_2502del (p.Ile833fs)
|
rs137854286
|
|
NM_000548.5(TSC2):c.2498del (p.Ile833fs)
|
rs397514944
|
|
NM_000548.5(TSC2):c.249G>A (p.Lys83=)
|
rs1202653675
|
|
NM_000548.5(TSC2):c.2505C>T (p.Ala835=)
|
rs1200802987
|
|
NM_000548.5(TSC2):c.2508A>G (p.Thr836=)
|
rs137854242
|
|
NM_000548.5(TSC2):c.251C>A (p.Ala84Glu)
|
rs35660529
|
|
NM_000548.5(TSC2):c.2520C>T (p.Ala840=)
|
rs147683438
|
|
NM_000548.5(TSC2):c.2525C>T (p.Pro842Leu)
|
rs2151355682
|
|
NM_000548.5(TSC2):c.2525del (p.Pro842fs)
|
rs137854375
|
|
NM_000548.5(TSC2):c.2530del (p.Leu844fs)
|
rs137854372
|
|
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro)
|
rs397515303
|
|
NM_000548.5(TSC2):c.2531T>G (p.Leu844Arg)
|
rs397515303
|
|
NM_000548.5(TSC2):c.2537T>A (p.Phe846Tyr)
|
rs45509000
|
|
NM_000548.5(TSC2):c.2538C>T (p.Phe846=)
|
rs1360361868
|
|
NM_000548.5(TSC2):c.2539del (p.Leu847fs)
|
rs137854140
|
|
NM_000548.5(TSC2):c.2539dup (p.Leu847fs)
|
rs137854140
|
|
NM_000548.5(TSC2):c.2540T>C (p.Leu847Pro)
|
rs45517240
|
|
NM_000548.5(TSC2):c.2545+2T>C
|
rs397515262
|
|
NM_000548.5(TSC2):c.2545+3G>A
|
rs2088950824
|
|
NM_000548.5(TSC2):c.2545+45T>A
|
rs45517244
|
|
NM_000548.5(TSC2):c.2545+6T>G
|
rs45517245
|
|
NM_000548.5(TSC2):c.2545+95dup
|
rs397515216
|
|
NM_000548.5(TSC2):c.2546-11C>G
|
rs397515157
|
|
NM_000548.5(TSC2):c.2546-15T>A
|
rs371256839
|
|
NM_000548.5(TSC2):c.2546-15T>G
|
rs371256839
|
|
NM_000548.5(TSC2):c.2546-1G>A
|
rs45468292
|
|
NM_000548.5(TSC2):c.2546-1G>C
|
rs45468292
|
|
NM_000548.5(TSC2):c.2546-2A>G
|
rs45517246
|
|
NM_000548.5(TSC2):c.2546-2A>T
|
rs45517246
|
|
NM_000548.5(TSC2):c.2546-40_2546-27del
|
rs397515055
|
|
NM_000548.5(TSC2):c.2547T>C (p.Thr849=)
|
rs1596364841
|
|
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro)
|
rs45517248
|
|
NM_000548.5(TSC2):c.2583del (p.Ala862fs)
|
rs137854264
|
|
NM_000548.5(TSC2):c.258G>C (p.Ala86=)
|
rs397514912
|
|
NM_000548.5(TSC2):c.258_283del (p.Asp87fs)
|
rs137854271
|
|
NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter)
|
rs45517250
|
|
NM_000548.5(TSC2):c.2608_2613dup (p.Ala870_Ile871dup)
|
rs137854092
|
|
NM_000548.5(TSC2):c.2613C>T (p.Ile871=)
|
rs1555508408
|
|
NM_000548.5(TSC2):c.2619G>T (p.Leu873=)
|
rs137854054
|
|
NM_000548.5(TSC2):c.2623T>C (p.Tyr875His)
|
rs2089272680
|
|
NM_000548.5(TSC2):c.2628C>A (p.Thr876=)
|
rs778678783
|
|
NM_000548.5(TSC2):c.2628dup (p.Asn877fs)
|
rs137854097
|
|
NM_000548.5(TSC2):c.2630A>G (p.Asn877Ser)
|
rs1567482364
|
|
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)
|
rs397515077
|
|
NM_000548.5(TSC2):c.2635_2636insA (p.Ser879fs)
|
rs397514943
|
|
NM_000548.5(TSC2):c.2638A>G (p.Lys880Glu)
|
rs2151382293
|
|
NM_000548.5(TSC2):c.2638_2639+2del
|
rs137854081
|
|
NM_000548.5(TSC2):c.2639+1G>C
|
rs45517252
|
|
NM_000548.5(TSC2):c.2639+1dup
|
rs137854394
|
|
NM_000548.5(TSC2):c.2639+44C>G
|
rs1800715
|
|
NM_000548.5(TSC2):c.2639+5G>A
|
rs397515171
|
|
NM_000548.5(TSC2):c.2639A>G (p.Lys880Arg)
|
rs2089276233
|
|
NM_000548.5(TSC2):c.2640-13C>A
|
rs201184637
|
|
NM_000548.5(TSC2):c.2640-15C>G
|
rs1011282445
|
|
NM_000548.5(TSC2):c.2640-1G>A
|
rs397515203
|
|
NM_000548.5(TSC2):c.2640-2A>T
|
rs137854380
|
|
NM_000548.5(TSC2):c.2640-4T>C
|
rs1596366489
|
|
NM_000548.5(TSC2):c.2640-4_2640-3del
|
rs1555508570
|
|
NM_000548.5(TSC2):c.2641T>C (p.Phe881Leu)
|
rs45463498
|
|
NM_000548.5(TSC2):c.2643del (p.Phe881fs)
|
rs137854030
|
|
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)
|
rs45476100
|
|
NM_000548.5(TSC2):c.2649G>A (p.Gln883=)
|
rs2151386276
|
|
NM_000548.5(TSC2):c.2652C>T (p.Tyr884=)
|
rs45489200
|
|
NM_000548.5(TSC2):c.2655C>G (p.Ile885Met)
|
rs1060504116
|
|
NM_000548.5(TSC2):c.2656G>A (p.Val886Met)
|
rs999523698
|
|
NM_000548.5(TSC2):c.265T>C (p.Leu89=)
|
rs1336362677
|
|
NM_000548.5(TSC2):c.2660_2661del (p.Cys887fs)
|
rs137854232
|
|
NM_000548.5(TSC2):c.2661T>A (p.Cys887Ter)
|
rs45475594
|
|
NM_000548.5(TSC2):c.2661_2707del (p.Ala889fs)
|
rs397515098
|
|
NM_000548.5(TSC2):c.2665G>C (p.Ala889Pro)
|
rs397515054
|
|
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val)
|
rs137854155
|
|
NM_000548.5(TSC2):c.2669_2677del (p.His890_Ile893delinsLeu)
|
rs137854068
|
|
NM_000548.5(TSC2):c.2670del (p.His891fs)
|
rs397514900
|
|
NM_000548.5(TSC2):c.2677A>G (p.Ile893Val)
|
rs2151387209
|
|
NM_000548.5(TSC2):c.2677del (p.Val892_Ile893insTer)
|
rs397515000
|
|
NM_000548.5(TSC2):c.2677dup (p.Ile893fs)
|
rs137854276
|
|
NM_000548.5(TSC2):c.2682C>G (p.Ala894=)
|
rs45517253
|
|
NM_000548.5(TSC2):c.2683A>G (p.Met895Val)
|
rs45470695
|
|
NM_000548.5(TSC2):c.2687G>A (p.Trp896Ter)
|
rs45517254
|
|
NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter)
|
rs397514913
|
|
NM_000548.5(TSC2):c.268C>G (p.Gln90Glu)
|
rs45517099
|
|
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)
|
rs45517099
|
|
NM_000548.5(TSC2):c.2690T>C (p.Phe897Ser)
|
rs45517255
|
|
NM_000548.5(TSC2):c.2695A>G (p.Arg899Gly)
|
rs2089322279
|
|
NM_000548.5(TSC2):c.2697G>T (p.Arg899Ser)
|
rs45517256
|
|
NM_000548.5(TSC2):c.269_272del (p.Gln90fs)
|
rs397515094
|
|
NM_000548.5(TSC2):c.26C>G (p.Ser9Ter)
|
rs397515228
|
|
NM_000548.5(TSC2):c.2700C>A (p.Cys900Ter)
|
rs45517257
|
|
NM_000548.5(TSC2):c.2700C>T (p.Cys900=)
|
rs45517257
|
|
NM_000548.5(TSC2):c.2703C>A (p.Arg901=)
|
rs2151388104
|
|
NM_000548.5(TSC2):c.2709dup (p.Phe904fs)
|
rs137854291
|
|
NM_000548.5(TSC2):c.2712C>T (p.Phe904=)
|
rs137920189
|
|
NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly)
|
rs45517258
|
|
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)
|
rs45517258
|
|
NM_000548.5(TSC2):c.2713del (p.Arg905fs)
|
rs397515007
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
NM_000548.5(TSC2):c.2716A>T (p.Lys906Ter)
|
rs397515243
|
|
NM_000548.5(TSC2):c.2717dup (p.Asp907fs)
|
rs137854073
|
|
NM_000548.5(TSC2):c.271C>A (p.Pro91Thr)
|
rs1555496979
|
|
NM_000548.5(TSC2):c.2721delinsAG (p.Asp907fs)
|
rs397515213
|
|
NM_000548.5(TSC2):c.2729del (p.Pro910fs)
|
rs137854067
|
|
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys)
|
rs774758044
|
|
NM_000548.5(TSC2):c.2733del (p.Phe911fs)
|
rs137854328
|
|
NM_000548.5(TSC2):c.2737_2738del (p.Ile912_Thr913insTer)
|
rs397515113
|
|
NM_000548.5(TSC2):c.2742+1G>A
|
rs45517262
|
|
NM_000548.5(TSC2):c.2742+1G>T
|
rs45517262
|
|
NM_000548.5(TSC2):c.2742+5G>A
|
rs397515076
|
|
NM_000548.5(TSC2):c.2742G>A (p.Lys914=)
|
rs137854877
|
|
NM_000548.5(TSC2):c.2742G>C (p.Lys914Asn)
|
rs137854877
|
|
NM_000548.5(TSC2):c.2743-1G>A
|
rs45517263
|
|
NM_000548.5(TSC2):c.2743-1G>C
|
rs45517263
|
|
NM_000548.5(TSC2):c.2743-2A>C
|
rs45445303
|
|
NM_000548.5(TSC2):c.2743-2A>G
|
rs45445303
|
|
NM_000548.5(TSC2):c.2743-4_2743dup
|
rs137854093
|
|
NM_000548.5(TSC2):c.2743-66A>G
|
rs45517266
|
|
NM_000548.5(TSC2):c.2743-9C>G
|
rs397515319
|
|
NM_000548.5(TSC2):c.2746C>T (p.Leu916=)
|
rs137854274
|
|
NM_000548.5(TSC2):c.2747T>G (p.Leu916Arg)
|
rs137854405
|
|
NM_000548.5(TSC2):c.274del (p.Glu92fs)
|
rs137854422
|
|
NM_000548.5(TSC2):c.2753C>G (p.Ser918Cys)
|
rs397515165
|
|
NM_000548.5(TSC2):c.2760C>T (p.Val920=)
|
rs149490538
|
|
NM_000548.5(TSC2):c.2765del (p.Leu922fs)
|
rs137854112
|
|
NM_000548.5(TSC2):c.2765dup (p.Leu922fs)
|
rs137854112
|
|
NM_000548.5(TSC2):c.2767_2769delinsCC (p.Ser923fs)
|
rs397515179
|
|
NM_000548.5(TSC2):c.2768C>T (p.Ser923Phe)
|
rs587778731
|
|
NM_000548.5(TSC2):c.2771T>C (p.Phe924Ser)
|
rs2543929873
|
|
NM_000548.5(TSC2):c.2772T>C (p.Phe924=)
|
rs2089406887
|
|
NM_000548.5(TSC2):c.2772T>G (p.Phe924Leu)
|
rs2089406887
|
|
NM_000548.5(TSC2):c.2774_2777delinsTC (p.Asp925fs)
|
rs137854202
|
|
NM_000548.5(TSC2):c.2779A>C (p.Thr927Pro)
|
rs1420034406
|
|
NM_000548.5(TSC2):c.2780C>T (p.Thr927Ile)
|
rs144329595
|
|
NM_000548.5(TSC2):c.2784C>G (p.Pro928=)
|
rs45517267
|
|
NM_000548.5(TSC2):c.2784del (p.Glu929fs)
|
rs34245038
|
|
NM_000548.5(TSC2):c.2784dup (p.Glu929fs)
|
rs34245038
|
|
NM_000548.5(TSC2):c.2785G>T (p.Glu929Ter)
|
rs45517268
|
|
NM_000548.5(TSC2):c.2785del (p.Glu929fs)
|
rs137854098
|
|
NM_000548.5(TSC2):c.2787G>A (p.Glu929=)
|
rs968144525
|
|
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln)
|
rs1222477746
|
|
NM_000548.5(TSC2):c.2790G>A (p.Lys930=)
|
rs2151395271
|
|
NM_000548.5(TSC2):c.2795G>A (p.Ser932Asn)
|
rs397515138
|
|
NM_000548.5(TSC2):c.2798T>G (p.Phe933Cys)
|
rs45517269
|
|
NM_000548.5(TSC2):c.279dup (p.Pro94fs)
|
rs137854409
|
|
NM_000548.5(TSC2):c.2806C>T (p.Arg936Trp)
|
rs2151395746
|
|
NM_000548.5(TSC2):c.280C>A (p.Pro94Thr)
|
rs1051616
|
|
NM_000548.5(TSC2):c.2814_2815del (p.Leu940fs)
|
rs137853975
|
|
NM_000548.5(TSC2):c.281del (p.Pro94fs)
|
rs137854179
|
|
NM_000548.5(TSC2):c.2824G>A (p.Glu942Lys)
|
rs45517270
|
|
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter)
|
rs45517270
|
|
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg)
|
rs886051791
|
|
NM_000548.5(TSC2):c.2837+1G>T
|
rs45517271
|
|
NM_000548.5(TSC2):c.2838-122G>A
|
rs1567489890
|
|
NM_000548.5(TSC2):c.2838-4A>C
|
rs45517272
|
|
NM_000548.5(TSC2):c.2838-5G>A
|
rs876660419
|
|
NM_000548.5(TSC2):c.2838-7C>A
|
rs752762518
|
|
NM_000548.5(TSC2):c.2839C>T (p.Leu947=)
|
rs2089574802
|
|
NM_000548.5(TSC2):c.2848G>C (p.Ala950Pro)
|
rs886051792
|
|
NM_000548.5(TSC2):c.284T>C (p.Leu95Pro)
|
rs2085369170
|
|
NM_000548.5(TSC2):c.2853A>T (p.Arg951Ser)
|
rs45517273
|
|
NM_000548.5(TSC2):c.2859C>G (p.Pro953=)
|
rs397514968
|
|
NM_000548.5(TSC2):c.2862A>G (p.Lys954=)
|
rs45517274
|
|
NM_000548.5(TSC2):c.2868C>T (p.Gly956=)
|
rs141573736
|
|
NM_000548.5(TSC2):c.286G>A (p.Glu96Lys)
|
rs2151027724
|
|
NM_000548.5(TSC2):c.2910dup (p.Ala971fs)
|
|
|
NM_000548.5(TSC2):c.2916C>T (p.Ala972=)
|
rs751474097
|
|
NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro)
|
rs779832805
|
|
NM_000548.5(TSC2):c.2942G>T (p.Ser981Ile)
|
|
|
NM_000548.5(TSC2):c.2950G>C (p.Glu984Gln)
|
rs397515156
|
|
NM_000548.5(TSC2):c.2966+1G>A
|
rs2089600815
|
|
NM_000548.5(TSC2):c.2966+92_2966+94dup
|
rs397515128
|
|
NM_000548.5(TSC2):c.2967-15G>C
|
rs375423568
|
|
NM_000548.5(TSC2):c.2967-1G>T
|
rs1596382055
|
|
NM_000548.5(TSC2):c.2968_2971dup (p.Ile991fs)
|
rs397515185
|
|
NM_000548.5(TSC2):c.2974C>T (p.Gln992Ter)
|
rs45438592
|
|
NM_000548.5(TSC2):c.2975_2978del (p.Gln992fs)
|
rs137854231
|
|
NM_000548.5(TSC2):c.2977_3025del (p.Thr993fs)
|
rs137854287
|
|
NM_000548.5(TSC2):c.297del (p.His99fs)
|
rs397515239
|
|
NM_000548.5(TSC2):c.2983_2990dup (p.Ala998fs)
|
rs137854324
|
|
NM_000548.5(TSC2):c.2985C>T (p.Leu995=)
|
rs786203324
|
|
NM_000548.5(TSC2):c.2988del (p.Ser997fs)
|
rs397515269
|
|
NM_000548.5(TSC2):c.2990G>T (p.Ser997Ile)
|
rs1596382214
|
|
NM_000548.5(TSC2):c.2992G>A (p.Ala998Thr)
|
rs1440361406
|
|
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.299_300dup (p.Val101fs)
|
rs137854244
|
|
NM_000548.5(TSC2):c.3007G>T (p.Ala1003Ser)
|
rs1555510234
|
|
NM_000548.5(TSC2):c.3017_3062del (p.Asn1006fs)
|
rs397515107
|
|
NM_000548.5(TSC2):c.301G>T (p.Val101Leu)
|
rs878854089
|
|
NM_000548.5(TSC2):c.3025G>T (p.Ala1009Ser)
|
rs45517278
|
|
NM_000548.5(TSC2):c.3028C>T (p.Gln1010Ter)
|
rs45514100
|
|
NM_000548.5(TSC2):c.3030G>C (p.Gln1010His)
|
rs776658284
|
|
NM_000548.5(TSC2):c.3037del (p.Asp1013fs)
|
rs137854301
|
|
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.3058C>T (p.Leu1020=)
|
rs574318440
|
|
NM_000548.5(TSC2):c.3058dup (p.Leu1020fs)
|
rs397515211
|
|
NM_000548.5(TSC2):c.3074C>G (p.Thr1025Ser)
|
rs1371092393
|
|
NM_000548.5(TSC2):c.3076dup (p.Cys1026fs)
|
rs137854334
|
|
NM_000548.5(TSC2):c.3079C>T (p.Leu1027=)
|
rs1596382637
|
|
NM_000548.5(TSC2):c.307_315dup (p.Ala103_Leu105dup)
|
rs137854004
|
|
NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro)
|
rs45438192
|
|
NM_000548.5(TSC2):c.3082G>A (p.Asp1028Asn)
|
rs45517280
|
|
NM_000548.5(TSC2):c.3083A>G (p.Asp1028Gly)
|
rs397515255
|
|
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)
|
rs45465195
|
|
NM_000548.5(TSC2):c.3094_3095insTTCCATG (p.Arg1032fs)
|
rs397515231
|
|
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)
|
rs45491698
|
|
NM_000548.5(TSC2):c.3097T>C (p.Tyr1033His)
|
rs137854404
|
|
NM_000548.5(TSC2):c.3098dup (p.Tyr1033Ter)
|
rs137854015
|
|
NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter)
|
rs45464800
|
|
NM_000548.5(TSC2):c.3099C>G (p.Tyr1033Ter)
|
rs45464800
|
|
NM_000548.5(TSC2):c.3099del (p.Arg1032_Tyr1033insTer)
|
rs137854157
|
|
NM_000548.5(TSC2):c.309T>G (p.Ala103=)
|
rs45517101
|
|
NM_000548.5(TSC2):c.3102C>G (p.Val1034=)
|
rs562998574
|
|
NM_000548.5(TSC2):c.3102C>T (p.Val1034=)
|
rs562998574
|
|
NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro)
|
rs45517281
|
|
NM_000548.5(TSC2):c.310C>G (p.Leu104Val)
|
rs1596259554
|
|
NM_000548.5(TSC2):c.3110A>C (p.Asn1037Thr)
|
rs2089806008
|
|
NM_000548.5(TSC2):c.3110A>G (p.Asn1037Ser)
|
rs2089806008
|
|
NM_000548.5(TSC2):c.3115_3116insTCCA (p.Thr1039fs)
|
rs137853989
|
|
NM_000548.5(TSC2):c.3116C>T (p.Thr1039Met)
|
rs1596382895
|
|
NM_000548.5(TSC2):c.3125C>A (p.Pro1042Gln)
|
rs745731000
|
|
NM_000548.5(TSC2):c.3125C>T (p.Pro1042Leu)
|
rs745731000
|
|
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=)
|
rs36078782
|
|
NM_000548.5(TSC2):c.3126G>T (p.Pro1042=)
|
rs36078782
|
|
NM_000548.5(TSC2):c.3128del (p.Lys1043fs)
|
rs137854070
|
|
NM_000548.5(TSC2):c.3131+11_3131+28del
|
rs137854115
|
|
NM_000548.5(TSC2):c.3131+1G>A
|
rs45506401
|
|
NM_000548.5(TSC2):c.3131+2T>C
|
rs397515036
|
|
NM_000548.5(TSC2):c.3131G>A (p.Arg1044Lys)
|
rs397515302
|
|
NM_000548.5(TSC2):c.3131G>T (p.Arg1044Met)
|
rs397515302
|
|
NM_000548.5(TSC2):c.3132-10T>C
|
rs397514894
|
|
NM_000548.5(TSC2):c.3132-18A>T
|
rs137854120
|
|
NM_000548.5(TSC2):c.3132-1G>A
|
rs45443096
|
|
NM_000548.5(TSC2):c.3132-1G>C
|
rs45443096
|
|
NM_000548.5(TSC2):c.3132-2A>C
|
rs45517282
|
|
NM_000548.5(TSC2):c.3138T>C (p.Pro1046=)
|
rs137854158
|
|
NM_000548.5(TSC2):c.3166A>G (p.Arg1056Gly)
|
rs2151437774
|
|
NM_000548.5(TSC2):c.3170C>T (p.Thr1057Ile)
|
rs1596383758
|
|
NM_000548.5(TSC2):c.3178T>C (p.Trp1060Arg)
|
rs45517285
|
|
NM_000548.5(TSC2):c.3181C>A (p.Leu1061Met)
|
rs946673791
|
|
NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro)
|
rs397514919
|
|
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro)
|
rs397515207
|
|
NM_000548.5(TSC2):c.3198dup (p.Val1067fs)
|
rs137854177
|
|
NM_000548.5(TSC2):c.319G>A (p.Ala107Thr)
|
rs1403848498
|
|
NM_000548.5(TSC2):c.3203C>T (p.Thr1068Ile)
|
rs397515284
|
|
NM_000548.5(TSC2):c.3206_3207del (p.Val1069fs)
|
rs137854076
|
|
NM_000548.5(TSC2):c.3210G>T (p.Thr1070=)
|
rs539927192
|
|
NM_000548.5(TSC2):c.3211A>G (p.Thr1071Ala)
|
rs2151439062
|
|
NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg)
|
rs45498892
|
|
NM_000548.5(TSC2):c.3214del (p.Ser1072fs)
|
rs137854106
|
|
NM_000548.5(TSC2):c.3217G>T (p.Val1073Leu)
|
rs749192298
|
|
NM_000548.5(TSC2):c.3220_3221delinsC (p.Gly1074fs)
|
rs137854384
|
|
NM_000548.5(TSC2):c.3221del (p.Gly1074fs)
|
rs397514962
|
|
NM_000548.5(TSC2):c.3223A>C (p.Thr1075Pro)
|
rs768568810
|
|
NM_000548.5(TSC2):c.3223_3229dup (p.Thr1077fs)
|
rs397515115
|
|
NM_000548.5(TSC2):c.3224C>T (p.Thr1075Ile)
|
rs397515024
|
|
NM_000548.5(TSC2):c.3230C>T (p.Thr1077Ile)
|
rs137854279
|
|
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)
|
rs397515087
|
|
NM_000548.5(TSC2):c.3236C>T (p.Ser1079Leu)
|
rs397515087
|
|
NM_000548.5(TSC2):c.3238T>C (p.Leu1080=)
|
rs1596384213
|
|
NM_000548.5(TSC2):c.3239del (p.Leu1080fs)
|
rs397515061
|
|
NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe)
|
rs371514669
|
|
NM_000548.5(TSC2):c.3243A>G (p.Leu1081=)
|
rs1156745816
|
|
NM_000548.5(TSC2):c.3254C>A (p.Ser1085Ter)
|
rs45517287
|
|
NM_000548.5(TSC2):c.3257_3259del (p.Gly1086del)
|
rs137854302
|
|
NM_000548.5(TSC2):c.3259G>A (p.Glu1087Lys)
|
rs1085307762
|
|
NM_000548.5(TSC2):c.3259_3261delinsAA (p.Glu1087fs)
|
rs397515044
|
|
NM_000548.5(TSC2):c.3259del (p.Glu1087fs)
|
rs137854302
|
|
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs)
|
rs137854302
|
|
NM_000548.5(TSC2):c.325G>T (p.Val109Leu)
|
rs369932305
|
|
NM_000548.5(TSC2):c.3261G>C (p.Glu1087Asp)
|
rs45438093
|
|
NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter)
|
rs45517288
|
|
NM_000548.5(TSC2):c.3267G>A (p.Gln1089=)
|
rs1555510717
|
|
NM_000548.5(TSC2):c.3268T>C (p.Ser1090Pro)
|
rs1060500936
|
|
NM_000548.5(TSC2):c.3268_3271dup (p.Gly1091fs)
|
rs137854213
|
|
NM_000548.5(TSC2):c.3275C>A (p.Pro1092Gln)
|
rs587781774
|
|
NM_000548.5(TSC2):c.3275del (p.Pro1092fs)
|
rs397515096
|
|
NM_000548.5(TSC2):c.3277G>C (p.Glu1093Gln)
|
rs1182829976
|
|
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu)
|
rs397514887
|
|
NM_000548.5(TSC2):c.3284+1G>A
|
rs45517289
|
|
NM_000548.5(TSC2):c.3284+1G>C
|
rs45517289
|
|
NM_000548.5(TSC2):c.3284+1del
|
rs137853990
|
|
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn)
|
rs1555510754
|
|
NM_000548.5(TSC2):c.3285-16G>A
|
rs397514886
|
|
NM_000548.5(TSC2):c.3285-63A>G
|
rs397515026
|
|
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.3294del (p.Val1100fs)
|
rs397515048
|
|
NM_000548.5(TSC2):c.3295G>C (p.Gly1099Arg)
|
rs776855601
|
|
NM_000548.5(TSC2):c.3298G>A (p.Val1100Met)
|
rs1596385749
|
|
NM_000548.5(TSC2):c.3298del (p.Val1100fs)
|
rs137854162
|
|
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met)
|
rs775584262
|
|
NM_000548.5(TSC2):c.3307_3308insC (p.Arg1103fs)
|
rs397515022
|
|
NM_000548.5(TSC2):c.330delinsAT (p.Gly111fs)
|
rs137854108
|
|
NM_000548.5(TSC2):c.3310C>T (p.Gln1104Ter)
|
rs397514978
|
|
NM_000548.5(TSC2):c.3310_3311del (p.Gln1104fs)
|
rs137854018
|
|
NM_000548.5(TSC2):c.3312_3313del (p.Gln1104fs)
|
rs397515183
|
|
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.3321G>A (p.Glu1107=)
|
rs1596385920
|
|
NM_000548.5(TSC2):c.3323C>T (p.Ala1108Val)
|
rs587781782
|
|
NM_000548.5(TSC2):c.3324G>A (p.Ala1108=)
|
rs786203392
|
|
NM_000548.5(TSC2):c.3324G>T (p.Ala1108=)
|
rs786203392
|
|
NM_000548.5(TSC2):c.3326dup (p.Ala1110fs)
|
rs2544067323
|
|
NM_000548.5(TSC2):c.3327_3337del (p.Ala1110fs)
|
rs397515013
|
|
NM_000548.5(TSC2):c.3329C>G (p.Ala1110Gly)
|
rs1060500923
|
|
NM_000548.5(TSC2):c.332G>A (p.Gly111Glu)
|
rs1488640964
|
|
NM_000548.5(TSC2):c.3331A>G (p.Lys1111Glu)
|
rs2151445646
|
|
NM_000548.5(TSC2):c.3337G>C (p.Glu1113Gln)
|
rs1567500491
|
|
NM_000548.5(TSC2):c.3337dup (p.Glu1113fs)
|
rs397515144
|
|
NM_000548.5(TSC2):c.3341C>T (p.Ser1114Phe)
|
rs2151446048
|
|
NM_000548.5(TSC2):c.3342C>A (p.Ser1114=)
|
rs755871381
|
|
NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter)
|
rs137854253
|
|
NM_000548.5(TSC2):c.3348_3349insAGCC (p.Gly1117fs)
|
rs137854042
|
|
NM_000548.5(TSC2):c.334C>T (p.Gln112Ter)
|
rs397515308
|
|
NM_000548.5(TSC2):c.3350_3360del (p.Gly1117fs)
|
rs137854003
|
|
NM_000548.5(TSC2):c.3352C>T (p.Gln1118Ter)
|
rs45496291
|
|
NM_000548.5(TSC2):c.3355C>T (p.Gln1119Ter)
|
rs45517292
|
|
NM_000548.5(TSC2):c.3356A>G (p.Gln1119Arg)
|
rs1567500641
|
|
NM_000548.5(TSC2):c.3359T>A (p.Val1120Glu)
|
rs397514895
|
|
NM_000548.5(TSC2):c.336+1G>A
|
rs45517102
|
|
NM_000548.5(TSC2):c.336+1_336+2dup
|
rs397515275
|
|
NM_000548.5(TSC2):c.336+2T>G
|
rs45505995
|
|
NM_000548.5(TSC2):c.336+30G>A
|
rs45503094
|
|
NM_000548.5(TSC2):c.336+33G>T
|
rs45517104
|
|
NM_000548.5(TSC2):c.3362C>T (p.Ser1121Phe)
|
rs1596386254
|
|
NM_000548.5(TSC2):c.337-1G>A
|
rs45517105
|
|
NM_000548.5(TSC2):c.337-1G>T
|
rs45517105
|
|
NM_000548.5(TSC2):c.337-2A>G
|
rs397515316
|
|
NM_000548.5(TSC2):c.337-2A>T
|
rs397515316
|
|
NM_000548.5(TSC2):c.337-5T>C
|
rs2548412653
|
|
NM_000548.5(TSC2):c.3372C>T (p.Ala1124=)
|
rs1555510963
|
|
NM_000548.5(TSC2):c.3373del (p.Arg1125fs)
|
rs137854013
|
|
NM_000548.5(TSC2):c.3373dup (p.Arg1125fs)
|
rs137854013
|
|
NM_000548.5(TSC2):c.3376dup (p.Asp1126fs)
|
rs397515125
|
|
NM_000548.5(TSC2):c.3377_3382dup (p.Asp1126_Arg1127dup)
|
rs1387479871
|
|
NM_000548.5(TSC2):c.3381G>A (p.Arg1127=)
|
rs1596386421
|
|
NM_000548.5(TSC2):c.3383del (p.Val1128fs)
|
rs137853996
|
|
NM_000548.5(TSC2):c.3384_3397+2del
|
rs137854190
|
|
NM_000548.5(TSC2):c.3390del (p.Met1131fs)
|
rs137854161
|
|
NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter)
|
rs137854074
|
|
NM_000548.5(TSC2):c.3397+1G>A
|
rs137854208
|
|
NM_000548.5(TSC2):c.3397+2T>G
|
rs45499293
|
|
NM_000548.5(TSC2):c.3397+5G>A
|
rs45501492
|
|
NM_000548.5(TSC2):c.3397+5G>T
|
rs45501492
|
|
NM_000548.5(TSC2):c.3398-10T>C
|
rs137854369
|
|
NM_000548.5(TSC2):c.3398-1G>A
|
rs45517293
|
|
NM_000548.5(TSC2):c.3398-6C>T
|
rs1555511284
|
|
NM_000548.5(TSC2):c.339del (p.Glu114fs)
|
rs137854063
|
|
NM_000548.5(TSC2):c.3400G>T (p.Gly1134Cys)
|
rs2089952201
|
|
NM_000548.5(TSC2):c.3401del (p.Gly1134Alafs)
|
rs137854314
|
|
NM_000548.5(TSC2):c.340G>A (p.Glu114Lys)
|
rs397515021
|
|
NM_000548.5(TSC2):c.340G>T (p.Glu114Ter)
|
rs397515021
|
|
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)
|
rs45451497
|
|
NM_000548.5(TSC2):c.3413G>C (p.Arg1138Pro)
|
rs143168379
|
|
NM_000548.5(TSC2):c.3413_3414insC (p.Val1139fs)
|
rs397515244
|
|
NM_000548.5(TSC2):c.3425dup (p.Asp1143fs)
|
rs137854313
|
|
NM_000548.5(TSC2):c.3430G>T (p.Val1144Leu)
|
rs45517294
|
|
NM_000548.5(TSC2):c.343del (p.Arg115fs)
|
rs397514918
|
|
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter)
|
rs45477491
|
|
NM_000548.5(TSC2):c.344G>C (p.Arg115Pro)
|
rs764529584
|
|
NM_000548.5(TSC2):c.3451G>A (p.Gly1151Ser)
|
rs137854022
|
|
NM_000548.5(TSC2):c.3452_3455dup (p.Ser1152fs)
|
rs137854078
|
|
NM_000548.5(TSC2):c.3454A>G (p.Ser1152Gly)
|
rs772215032
|
|
NM_000548.5(TSC2):c.3459C>T (p.Ala1153=)
|
rs1596389837
|
|
NM_000548.5(TSC2):c.3460A>G (p.Thr1154Ala)
|
rs1266509754
|
|
NM_000548.5(TSC2):c.3460A>T (p.Thr1154Ser)
|
rs1266509754
|
|
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.3470G>C (p.Gly1157Ala)
|
rs1477039147
|
|
NM_000548.5(TSC2):c.3474A>G (p.Pro1158=)
|
rs764816862
|
|
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln)
|
rs45473098
|
|
NM_000548.5(TSC2):c.3483A>T (p.Ala1161=)
|
rs748326601
|
|
NM_000548.5(TSC2):c.3488C>T (p.Ala1163Val)
|
rs1596390123
|
|
NM_000548.5(TSC2):c.3490G>T (p.Ala1164Ser)
|
rs776579875
|
|
NM_000548.5(TSC2):c.3497del (p.Pro1166fs)
|
rs397515052
|
|
NM_000548.5(TSC2):c.3498dup (p.Glu1167Ter)
|
rs137854340
|
|
NM_000548.5(TSC2):c.34A>T (p.Lys12Ter)
|
rs45512692
|
|
NM_000548.5(TSC2):c.3501G>C (p.Glu1167Asp)
|
rs2151459095
|
|
NM_000548.5(TSC2):c.3505G>A (p.Ala1169Thr)
|
rs773900333
|
|
NM_000548.5(TSC2):c.3509C>A (p.Ser1170Ter)
|
rs45517296
|
|
NM_000548.5(TSC2):c.3509C>G (p.Ser1170Ter)
|
rs45517296
|
|
NM_000548.5(TSC2):c.3509C>T (p.Ser1170Leu)
|
rs45517296
|
|
NM_000548.5(TSC2):c.3510A>T (p.Ser1170=)
|
|
|
NM_000548.5(TSC2):c.3515G>A (p.Gly1172Asp)
|
rs1567504268
|
|
NM_000548.5(TSC2):c.3516C>T (p.Gly1172=)
|
rs1555511474
|
|
NM_000548.5(TSC2):c.3519C>T (p.Thr1173=)
|
rs754306983
|
|
NM_000548.5(TSC2):c.3520del (p.Arg1174fs)
|
rs137854326
|
|
NM_000548.5(TSC2):c.3527C>T (p.Pro1176Leu)
|
rs753110463
|
|
NM_000548.5(TSC2):c.352dup (p.Val118fs)
|
rs137853982
|
|
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter)
|
rs45517297
|
|
NM_000548.5(TSC2):c.3535G>T (p.Glu1179Ter)
|
rs45483391
|
|
NM_000548.5(TSC2):c.3535_3537del (p.Glu1179del)
|
rs1060500937
|
|
NM_000548.5(TSC2):c.3542C>G (p.Thr1181Arg)
|
rs373481458
|
|
NM_000548.5(TSC2):c.3546C>T (p.Asn1182=)
|
rs2151460683
|
|
NM_000548.5(TSC2):c.354C>T (p.Val118=)
|
rs762228318
|
|
NM_000548.5(TSC2):c.3555C>A (p.Ala1185=)
|
rs745762286
|
|
NM_000548.5(TSC2):c.3557A>C (p.Tyr1186Ser)
|
rs137854421
|
|
NM_000548.5(TSC2):c.3557A>T (p.Tyr1186Phe)
|
rs137854421
|
|
NM_000548.5(TSC2):c.3559del (p.Val1187fs)
|
rs137854163
|
|
NM_000548.5(TSC2):c.3565C>T (p.Leu1189=)
|
rs796053476
|
|
NM_000548.5(TSC2):c.3565dup (p.Leu1189fs)
|
rs137854121
|
|
NM_000548.5(TSC2):c.3574C>T (p.Gln1192Ter)
|
rs45517298
|
|
NM_000548.5(TSC2):c.3574del (p.Gln1192fs)
|
rs137854014
|
|
NM_000548.5(TSC2):c.3578del (p.Gly1193fs)
|
rs137854262
|
|
NM_000548.5(TSC2):c.357C>G (p.Leu119=)
|
rs1168763677
|
|
NM_000548.5(TSC2):c.357del (p.Arg120fs)
|
rs137854258
|
|
NM_000548.5(TSC2):c.3581G>A (p.Trp1194Ter)
|
rs397515168
|
|
NM_000548.5(TSC2):c.3596T>G (p.Val1199Gly)
|
rs397515088
|
|
NM_000548.5(TSC2):c.3599G>C (p.Arg1200Pro)
|
rs397515225
|
|
NM_000548.5(TSC2):c.3602G>A (p.Arg1201Lys)
|
rs1596390955
|
|
NM_000548.5(TSC2):c.3605C>A (p.Pro1202His)
|
rs397515060
|
|
NM_000548.5(TSC2):c.3605C>G (p.Pro1202Arg)
|
rs397515060
|
|
NM_000548.5(TSC2):c.3607A>C (p.Thr1203Pro)
|
rs397515265
|
|
NM_000548.5(TSC2):c.3608C>A (p.Thr1203Lys)
|
rs397515030
|
|
NM_000548.5(TSC2):c.3610+1G>A
|
rs45517299
|
|
NM_000548.5(TSC2):c.3610+4C>G
|
rs201978396
|
|
NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg)
|
rs1555511663
|
|
NM_000548.5(TSC2):c.3611-11C>G
|
rs375617364
|
|
NM_000548.5(TSC2):c.3611-1G>A
|
|
|
NM_000548.5(TSC2):c.3611-28C>A
|
rs45517303
|
|
NM_000548.5(TSC2):c.3611-2A>T
|
rs397515169
|
|
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)
|
rs45462194
|
|
NM_000548.5(TSC2):c.3620G>T (p.Ser1207Ile)
|
rs397515313
|
|
NM_000548.5(TSC2):c.3620_3624del (p.Ser1207fs)
|
rs397514952
|
|
NM_000548.5(TSC2):c.3622T>C (p.Trp1208Arg)
|
rs45482795
|
|
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly)
|
rs45482795
|
|
NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter)
|
rs397514979
|
|
NM_000548.5(TSC2):c.3624G>T (p.Trp1208Cys)
|
rs796053496
|
|
NM_000548.5(TSC2):c.3637del (p.Glu1213fs)
|
rs397515010
|
|
NM_000548.5(TSC2):c.3643_3644insTG (p.Pro1215fs)
|
rs137854224
|
|
NM_000548.5(TSC2):c.3645G>A (p.Pro1215=)
|
rs758114962
|
|
NM_000548.5(TSC2):c.364C>A (p.Leu122Ile)
|
rs1175373447
|
|
NM_000548.5(TSC2):c.3650G>A (p.Ser1217Asn)
|
rs2151481330
|
|
NM_000548.5(TSC2):c.3653_3660del (p.Pro1218fs)
|
rs137854389
|
|
NM_000548.5(TSC2):c.3653_3670del (p.Pro1218_Asn1224delinsHis)
|
rs397514904
|
|
NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter)
|
rs45517305
|
|
NM_000548.5(TSC2):c.3663_3664del (p.Asp1222fs)
|
rs137854393
|
|
NM_000548.5(TSC2):c.3669del (p.Asn1224fs)
|
rs137854223
|
|
NM_000548.5(TSC2):c.366CTT[1] (p.Phe124del)
|
rs1342475885
|
|
NM_000548.5(TSC2):c.3677T>C (p.Met1226Thr)
|
rs2090157003
|
|
NM_000548.5(TSC2):c.3682C>A (p.Leu1228Met)
|
rs938124834
|
|
NM_000548.5(TSC2):c.3682C>G (p.Leu1228Val)
|
|
|
NM_000548.5(TSC2):c.3684dup (p.Gln1229fs)
|
rs2544156047
|
|
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter)
|
rs45517306
|
|
NM_000548.5(TSC2):c.3686_3701del (p.Gln1229fs)
|
rs137854129
|
|
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs)
|
rs137853993
|
|
NM_000548.5(TSC2):c.3695C>G (p.Ser1232Cys)
|
rs886039876
|
|
NM_000548.5(TSC2):c.3695del (p.Ser1232fs)
|
rs137854316
|
|
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter)
|
rs137854210
|
|
NM_000548.5(TSC2):c.3699dup (p.Ala1234fs)
|
rs397515193
|
|
NM_000548.5(TSC2):c.36G>A (p.Lys12=)
|
rs1596233951
|
|
NM_000548.5(TSC2):c.3703C>T (p.Leu1235Phe)
|
rs137854303
|
|
NM_000548.5(TSC2):c.3705del (p.Met1236fs)
|
rs137854325
|
|
NM_000548.5(TSC2):c.3707T>C (p.Met1236Thr)
|
rs1567510644
|
|
NM_000548.5(TSC2):c.3712del (p.Ala1238fs)
|
rs397515161
|
|
NM_000548.5(TSC2):c.3713C>T (p.Ala1238Val)
|
rs2151482691
|
|
NM_000548.5(TSC2):c.3729G>A (p.Glu1243=)
|
rs2151483009
|
|
NM_000548.5(TSC2):c.372T>C (p.Phe124=)
|
rs753922923
|
|
NM_000548.5(TSC2):c.3750C>A (p.Tyr1250Ter)
|
rs45517308
|
|
NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter)
|
rs45517308
|
|
NM_000548.5(TSC2):c.3760T>C (p.Ser1254Pro)
|
rs2544160694
|
|
NM_000548.5(TSC2):c.3762_3783del (p.Val1255fs)
|
rs137854194
|
|
NM_000548.5(TSC2):c.3769del (p.Ala1257fs)
|
rs137854180
|
|
NM_000548.5(TSC2):c.3773C>T (p.Ala1258Val)
|
rs1060500958
|
|
NM_000548.5(TSC2):c.3776G>A (p.Ser1259Asn)
|
rs1596400661
|
|
NM_000548.5(TSC2):c.3778A>G (p.Thr1260Ala)
|
rs1310948800
|
|
NM_000548.5(TSC2):c.3782C>A (p.Ala1261Asp)
|
rs45517310
|
|
NM_000548.5(TSC2):c.3786A>C (p.Lys1262Asn)
|
|
|
NM_000548.5(TSC2):c.3786A>G (p.Lys1262=)
|
rs752513898
|
|
NM_000548.5(TSC2):c.3787C>A (p.Pro1263Thr)
|
rs1233661099
|
|
NM_000548.5(TSC2):c.3791del (p.Pro1264fs)
|
rs137854001
|
|
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.3814+1G>A
|
rs397514902
|
|
NM_000548.5(TSC2):c.3814+1G>C
|
rs397514902
|
|
NM_000548.5(TSC2):c.3814+5G>A
|
rs1555512582
|
|
NM_000548.5(TSC2):c.3815-14G>A
|
rs2151492084
|
|
NM_000548.5(TSC2):c.3815-28C>G
|
rs45517313
|
|
NM_000548.5(TSC2):c.3830C>T (p.Ser1277Phe)
|
rs1330915229
|
|
NM_000548.5(TSC2):c.3832C>G (p.Leu1278Val)
|
rs374146919
|
|
NM_000548.5(TSC2):c.3835T>C (p.Tyr1279His)
|
rs1449727037
|
|
NM_000548.5(TSC2):c.3837C>G (p.Tyr1279Ter)
|
rs1555512861
|
|
NM_000548.5(TSC2):c.3844A>G (p.Ser1282Gly)
|
rs45446700
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
NM_000548.5(TSC2):c.384G>A (p.Lys128=)
|
rs748095129
|
|
NM_000548.5(TSC2):c.3853G>A (p.Gly1285Arg)
|
rs2090264891
|
|
NM_000548.5(TSC2):c.385del (p.Asp129fs)
|
rs137854059
|
|
NM_000548.5(TSC2):c.3865A>G (p.Arg1289Gly)
|
rs2090265922
|
|
NM_000548.5(TSC2):c.3867G>A (p.Arg1289=)
|
rs1008733639
|
|
NM_000548.5(TSC2):c.3876C>T (p.Ser1292=)
|
rs1173548095
|
|
NM_000548.5(TSC2):c.3879G>A (p.Trp1293Ter)
|
|
|
NM_000548.5(TSC2):c.387T>A (p.Asp129Glu)
|
rs1202650869
|
|
NM_000548.5(TSC2):c.3883+15_3883+16del
|
rs137854278
|
|
NM_000548.5(TSC2):c.3883+1G>C
|
rs2090268989
|
|
NM_000548.5(TSC2):c.3883+76C>A
|
rs137854188
|
|
NM_000548.5(TSC2):c.3884-12G>A
|
rs1282062597
|
|
NM_000548.5(TSC2):c.3884-17C>G
|
rs45517317
|
|
NM_000548.5(TSC2):c.3884-1G>A
|
rs137854079
|
|
NM_000548.5(TSC2):c.3884-1G>C
|
rs137854079
|
|
NM_000548.5(TSC2):c.3884-2A>T
|
rs137854053
|
|
NM_000548.5(TSC2):c.3884-51C>A
|
rs45505099
|
|
NM_000548.5(TSC2):c.3884-51C>G
|
rs45505099
|
|
NM_000548.5(TSC2):c.3884-55A>T
|
rs45517318
|
|
NM_000548.5(TSC2):c.3884-8C>T
|
rs397515219
|
|
NM_000548.5(TSC2):c.3887C>T (p.Ser1296Phe)
|
rs1027773484
|
|
NM_000548.5(TSC2):c.388del (p.Tyr130fs)
|
rs397514975
|
|
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=)
|
rs373508609
|
|
NM_000548.5(TSC2):c.3891C>T (p.Ala1297=)
|
rs373508609
|
|
NM_000548.5(TSC2):c.3897C>T (p.Val1299=)
|
rs2151510391
|
|
NM_000548.5(TSC2):c.3898A>G (p.Met1300Val)
|
rs1596411880
|
|
NM_000548.5(TSC2):c.3906G>A (p.Glu1302=)
|
rs2151510679
|
|
NM_000548.5(TSC2):c.3913C>A (p.Pro1305Thr)
|
rs45452994
|
|
NM_000548.5(TSC2):c.3913C>T (p.Pro1305Ser)
|
rs45452994
|
|
NM_000548.5(TSC2):c.3914C>A (p.Pro1305Gln)
|
rs45517320
|
|
NM_000548.5(TSC2):c.3915G>C (p.Pro1305=)
|
rs11551373
|
|
NM_000548.5(TSC2):c.391C>T (p.Pro131Ser)
|
rs777398393
|
|
NM_000548.5(TSC2):c.3924dup (p.Pro1309fs)
|
rs137854142
|
|
NM_000548.5(TSC2):c.3927T>C (p.Pro1309=)
|
rs1488161104
|
|
NM_000548.5(TSC2):c.3935dup (p.Glu1313fs)
|
rs397515212
|
|
NM_000548.5(TSC2):c.3936G>A (p.Val1312=)
|
rs876659932
|
|
NM_000548.5(TSC2):c.3937G>T (p.Glu1313Ter)
|
rs45517321
|
|
NM_000548.5(TSC2):c.3943C>G (p.Pro1315Ala)
|
rs397514916
|
|
NM_000548.5(TSC2):c.3943C>T (p.Pro1315Ser)
|
rs397514916
|
|
NM_000548.5(TSC2):c.3943_3944del (p.Pro1315fs)
|
rs137854011
|
|
NM_000548.5(TSC2):c.3945A>G (p.Pro1315=)
|
rs1811018177
|
|
NM_000548.5(TSC2):c.3952_3961del (p.Glu1318fs)
|
rs397515260
|
|
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val)
|
rs45517322
|
|
NM_000548.5(TSC2):c.395_396del (p.Pro131_Ser132insTer)
|
rs397515263
|
|
NM_000548.5(TSC2):c.3961G>T (p.Glu1321Ter)
|
rs397514910
|
|
NM_000548.5(TSC2):c.3962A>C (p.Glu1321Ala)
|
rs587778736
|
|
NM_000548.5(TSC2):c.3963G>A (p.Glu1321=)
|
rs587778737
|
|
NM_000548.5(TSC2):c.397A>G (p.Asn133Asp)
|
|
|
NM_000548.5(TSC2):c.3982A>G (p.Arg1328Gly)
|
rs778389399
|
|
NM_000548.5(TSC2):c.3984del (p.Arg1328fs)
|
rs137854255
|
|
NM_000548.5(TSC2):c.3990G>T (p.Thr1330=)
|
rs369943684
|
|
NM_000548.5(TSC2):c.3991G>A (p.Asp1331Asn)
|
rs770396146
|
|
NM_000548.5(TSC2):c.3991G>C (p.Asp1331His)
|
rs770396146
|
|
NM_000548.5(TSC2):c.3991del (p.Asp1331fs)
|
rs397515058
|
|
NM_000548.5(TSC2):c.3996C>A (p.Ala1332=)
|
rs1421997373
|
|
NM_000548.5(TSC2):c.3997dup (p.Tyr1333fs)
|
rs137854403
|
|
NM_000548.5(TSC2):c.3998A>G (p.Tyr1333Cys)
|
rs878854099
|
|
NM_000548.5(TSC2):c.3999del (p.Ala1332_Tyr1333insTer)
|
rs397515232
|
|
NM_000548.5(TSC2):c.3G>A (p.Met1Ile)
|
rs397515208
|
|
NM_000548.5(TSC2):c.4005+1G>T
|
rs45517324
|
|
NM_000548.5(TSC2):c.4005+2T>A
|
rs137854254
|
|
NM_000548.5(TSC2):c.4006-2A>G
|
rs397514941
|
|
NM_000548.5(TSC2):c.4006-5T>C
|
rs1596415173
|
|
NM_000548.5(TSC2):c.4008_4010del (p.Ser1338del)
|
rs1567520255
|
|
NM_000548.5(TSC2):c.4024C>T (p.Gln1342Ter)
|
rs397515003
|
|
NM_000548.5(TSC2):c.4030G>T (p.Glu1344Ter)
|
rs397515035
|
|
NM_000548.5(TSC2):c.4034A>G (p.Lys1345Arg)
|
|
|
NM_000548.5(TSC2):c.4037C>A (p.Ser1346Ter)
|
rs45517326
|
|
NM_000548.5(TSC2):c.403dup (p.Asp135fs)
|
rs137854166
|
|
NM_000548.5(TSC2):c.4041C>T (p.Leu1347=)
|
rs1060504109
|
|
NM_000548.5(TSC2):c.4042C>T (p.His1348Tyr)
|
rs2151521367
|
|
NM_000548.5(TSC2):c.404_407dup (p.His137fs)
|
rs137854381
|
|
NM_000548.5(TSC2):c.4050G>A (p.Glu1350=)
|
rs2090485089
|
|
NM_000548.5(TSC2):c.4051G>A (p.Glu1351Lys)
|
rs878854101
|
|
NM_000548.5(TSC2):c.4057G>T (p.Val1353Phe)
|
rs373982157
|
|
NM_000548.5(TSC2):c.4061del (p.Gly1354fs)
|
rs397515129
|
|
NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly)
|
rs1555513911
|
|
NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val)
|
rs747104864
|
|
NM_000548.5(TSC2):c.4067del (p.Gly1356fs)
|
rs137854330
|
|
NM_000548.5(TSC2):c.4067dup (p.Ile1357fs)
|
rs137854330
|
|
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr)
|
rs878854103
|
|
NM_000548.5(TSC2):c.4073C>T (p.Pro1358Leu)
|
rs397515130
|
|
NM_000548.5(TSC2):c.4078G>T (p.Glu1360Ter)
|
rs397514997
|
|
NM_000548.5(TSC2):c.4082G>C (p.Arg1361Pro)
|
rs762798984
|
|
NM_000548.5(TSC2):c.4083_4087del (p.Val1362fs)
|
rs137853978
|
|
NM_000548.5(TSC2):c.4085T>A (p.Val1362Asp)
|
rs397514947
|
|
NM_000548.5(TSC2):c.4085T>G (p.Val1362Gly)
|
|
|
NM_000548.5(TSC2):c.4088_4095dup (p.Glu1366fs)
|
rs397515126
|
|
NM_000548.5(TSC2):c.4089CTC[1] (p.Ser1365del)
|
rs755101865
|
|
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter)
|
rs45517327
|
|
NM_000548.5(TSC2):c.4102G>A (p.Gly1368Ser)
|
rs1596415966
|
|
NM_000548.5(TSC2):c.4105C>A (p.Arg1369=)
|
rs45517328
|
|
NM_000548.5(TSC2):c.4107G>A (p.Arg1369=)
|
rs201688447
|
|
NM_000548.5(TSC2):c.410A>G (p.His137Arg)
|
rs45517107
|
|
NM_000548.5(TSC2):c.4110C>T (p.Pro1370=)
|
rs771107874
|
|
NM_000548.5(TSC2):c.4114G>T (p.Val1372Leu)
|
rs2090494113
|
|
NM_000548.5(TSC2):c.4115_4116del (p.Val1372fs)
|
rs137854368
|
|
NM_000548.5(TSC2):c.4120C>T (p.Leu1374Phe)
|
rs2544261169
|
|
NM_000548.5(TSC2):c.4122C>G (p.Leu1374=)
|
rs2544261338
|
|
NM_000548.5(TSC2):c.4123_4124del (p.Ser1375fs)
|
rs137854289
|
|
NM_000548.5(TSC2):c.4128C>T (p.Phe1376=)
|
rs1060504086
|
|
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter)
|
rs45517329
|
|
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys)
|
rs1173061992
|
|
NM_000548.5(TSC2):c.4130A>G (p.Gln1377Arg)
|
rs2151524153
|
|
NM_000548.5(TSC2):c.4134C>G (p.Pro1378=)
|
rs1060504081
|
|
NM_000548.5(TSC2):c.4136C>A (p.Ser1379Ter)
|
rs137854065
|
|
NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter)
|
rs137854045
|
|
NM_000548.5(TSC2):c.4142C>T (p.Pro1381Leu)
|
rs397515264
|
|
NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter)
|
rs397514976
|
|
NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs)
|
rs397515009
|
|
NM_000548.5(TSC2):c.4152G>A (p.Lys1384=)
|
rs2151525029
|
|
NM_000548.5(TSC2):c.415del (p.Arg139fs)
|
rs137854010
|
|
NM_000548.5(TSC2):c.4161C>T (p.Ser1387=)
|
|
|
NM_000548.5(TSC2):c.4163C>A (p.Ser1388Tyr)
|
rs764039393
|
|
NM_000548.5(TSC2):c.4164_4165del (p.Pro1389fs)
|
rs137854043
|
|
NM_000548.5(TSC2):c.4168G>T (p.Glu1390Ter)
|
rs397515033
|
|
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter)
|
rs45517330
|
|
NM_000548.5(TSC2):c.4174del (p.Gln1392fs)
|
rs137854051
|
|
NM_000548.5(TSC2):c.4176_4177del (p.Gln1392fs)
|
rs137854270
|
|
NM_000548.5(TSC2):c.4180C>G (p.Leu1394Val)
|
rs911307922
|
|
NM_000548.5(TSC2):c.4180_4181del (p.Leu1394fs)
|
rs137854363
|
|
NM_000548.5(TSC2):c.4183_4195del (p.Gln1395fs)
|
rs397514935
|
|
NM_000548.5(TSC2):c.4192C>T (p.Leu1398Phe)
|
rs1060500928
|
|
NM_000548.5(TSC2):c.4201C>G (p.Pro1401Ala)
|
rs778147657
|
|
NM_000548.5(TSC2):c.4207del (p.Asp1403fs)
|
rs137854273
|
|
NM_000548.5(TSC2):c.4207dup (p.Asp1403fs)
|
rs137854273
|
|
NM_000548.5(TSC2):c.4209C>G (p.Asp1403Glu)
|
rs1257841799
|
|
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn)
|
rs147719291
|
|
NM_000548.5(TSC2):c.4219G>C (p.Val1407Leu)
|
rs45517332
|
|
NM_000548.5(TSC2):c.4223del (p.Gly1408fs)
|
rs137854427
|
|
NM_000548.5(TSC2):c.4225C>G (p.Arg1409Gly)
|
rs45517333
|
|
NM_000548.5(TSC2):c.4233C>T (p.Ser1411=)
|
rs1060504090
|
|
NM_000548.5(TSC2):c.4234C>T (p.Pro1412Ser)
|
rs1480313663
|
|
NM_000548.5(TSC2):c.4239G>A (p.Glu1413=)
|
rs907082165
|
|
NM_000548.5(TSC2):c.4241_4275del (p.Val1414fs)
|
rs137854296
|
|
NM_000548.5(TSC2):c.4244dup (p.Ala1416fs)
|
rs137854243
|
|
NM_000548.5(TSC2):c.4245G>C (p.Lys1415Asn)
|
rs1431882138
|
|
NM_000548.5(TSC2):c.4248C>A (p.Ala1416=)
|
rs1393358018
|
|
NM_000548.5(TSC2):c.4249del (p.Arg1417fs)
|
rs137854055
|
|
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter)
|
rs45437193
|
|
NM_000548.5(TSC2):c.4255del (p.Gln1419fs)
|
rs137854137
|
|
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs)
|
rs137854132
|
|
NM_000548.5(TSC2):c.4260_4261del (p.Gly1421fs)
|
rs397515271
|
|
NM_000548.5(TSC2):c.4266_4272del (p.Leu1423fs)
|
rs397515069
|
|
NM_000548.5(TSC2):c.4270G>C (p.Asp1424His)
|
rs1216613310
|
|
NM_000548.5(TSC2):c.4273_4337del (p.Gly1425fs)
|
rs1555514235
|
|
NM_000548.5(TSC2):c.4276G>T (p.Glu1426Ter)
|
rs45449094
|
|
NM_000548.5(TSC2):c.4279del (p.Ser1427fs)
|
rs137854113
|
|
NM_000548.5(TSC2):c.4280G>C (p.Ser1427Thr)
|
rs397515250
|
|
NM_000548.5(TSC2):c.4283del (p.Ala1428fs)
|
rs397515233
|
|
NM_000548.5(TSC2):c.4289G>A (p.Trp1430Ter)
|
rs45507198
|
|
NM_000548.5(TSC2):c.428T>A (p.Phe143Tyr)
|
rs2151043120
|
|
NM_000548.5(TSC2):c.4290G>A (p.Trp1430Ter)
|
rs45517334
|
|
NM_000548.5(TSC2):c.4292C>G (p.Ser1431Trp)
|
rs375785710
|
|
NM_000548.5(TSC2):c.4298C>A (p.Ser1433Ter)
|
rs45517335
|
|
NM_000548.5(TSC2):c.4308C>T (p.Asp1436=)
|
rs45517336
|
|
NM_000548.5(TSC2):c.4309A>T (p.Ser1437Cys)
|
rs1440449585
|
|
NM_000548.5(TSC2):c.4309_4312del (p.Ser1437fs)
|
rs137854415
|
|
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp)
|
rs778925833
|
|
NM_000548.5(TSC2):c.4316del (p.Gly1439fs)
|
rs137853988
|
|
NM_000548.5(TSC2):c.4316dup (p.Gln1440fs)
|
rs137853988
|
|
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter)
|
rs45517337
|
|
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser)
|
rs201710642
|
|
NM_000548.5(TSC2):c.4323dup (p.Glu1442fs)
|
rs137854327
|
|
NM_000548.5(TSC2):c.4324del (p.Glu1442fs)
|
rs397515188
|
|
NM_000548.5(TSC2):c.4325A>T (p.Glu1442Val)
|
rs1204349917
|
|
NM_000548.5(TSC2):c.4330C>T (p.Pro1444Ser)
|
rs1459518095
|
|
NM_000548.5(TSC2):c.4337C>T (p.Pro1446Leu)
|
rs2090523005
|
|
NM_000548.5(TSC2):c.4341C>T (p.Ser1447=)
|
rs1060504117
|
|
NM_000548.5(TSC2):c.4344C>T (p.Ser1448=)
|
rs2090523818
|
|
NM_000548.5(TSC2):c.4349C>A (p.Pro1450His)
|
rs45517338
|
|
NM_000548.5(TSC2):c.4350C>G (p.Pro1450=)
|
rs767996683
|
|
NM_000548.5(TSC2):c.4351C>A (p.Arg1451Ser)
|
rs369553241
|
|
NM_000548.5(TSC2):c.4351del (p.Arg1451fs)
|
rs397514939
|
|
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs)
|
rs397514939
|
|
NM_000548.5(TSC2):c.4352dup (p.Ser1452fs)
|
rs397515175
|
|
NM_000548.5(TSC2):c.4355C>A (p.Ser1452Ter)
|
rs45517339
|
|
NM_000548.5(TSC2):c.435C>T (p.Ala145=)
|
rs762200040
|
|
NM_000548.5(TSC2):c.4360A>G (p.Ser1454Gly)
|
rs137854366
|
|
NM_000548.5(TSC2):c.4361G>T (p.Ser1454Ile)
|
rs758233186
|
|
NM_000548.5(TSC2):c.4366C>T (p.Leu1456Phe)
|
rs1199848222
|
|
NM_000548.5(TSC2):c.4371G>A (p.Arg1457=)
|
rs1596417989
|
|
NM_000548.5(TSC2):c.4371dup (p.Pro1458fs)
|
rs137854046
|
|
NM_000548.5(TSC2):c.4374_4375insT (p.Arg1459fs)
|
rs137854038
|
|
NM_000548.5(TSC2):c.4375del (p.Arg1459fs)
|
rs397514959
|
|
NM_000548.5(TSC2):c.4378G>A (p.Gly1460Ser)
|
rs1238109196
|
|
NM_000548.5(TSC2):c.437T>G (p.Leu146Arg)
|
rs397514996
|
|
NM_000548.5(TSC2):c.4383C>G (p.Tyr1461Ter)
|
rs397514977
|
|
NM_000548.5(TSC2):c.4397C>A (p.Ser1466Ter)
|
rs45517341
|
|
NM_000548.5(TSC2):c.4398G>A (p.Ser1466=)
|
rs376086638
|
|
NM_000548.5(TSC2):c.4399dup (p.Ala1467fs)
|
rs397515065
|
|
NM_000548.5(TSC2):c.4401_4402insT (p.Pro1468fs)
|
rs397515004
|
|
NM_000548.5(TSC2):c.4405T>G (p.Ser1469Ala)
|
rs907136617
|
|
NM_000548.5(TSC2):c.4406C>A (p.Ser1469Ter)
|
rs45517342
|
|
NM_000548.5(TSC2):c.4409G>A (p.Arg1470His)
|
rs1060500969
|
|
NM_000548.5(TSC2):c.4409dup (p.Arg1471fs)
|
rs397515041
|
|
NM_000548.5(TSC2):c.440C>T (p.Thr147Ile)
|
rs1555497690
|
|
NM_000548.5(TSC2):c.440_441del (p.Thr147fs)
|
rs137854292
|
|
NM_000548.5(TSC2):c.4416C>T (p.Gly1472=)
|
rs2090534289
|
|
NM_000548.5(TSC2):c.4417A>C (p.Lys1473Gln)
|
rs397515136
|
|
NM_000548.5(TSC2):c.4420A>G (p.Arg1474Gly)
|
rs766719443
|
|
NM_000548.5(TSC2):c.4422_4423del (p.Arg1474fs)
|
rs137854307
|
|
NM_000548.5(TSC2):c.4424_4427dup (p.Glu1476fs)
|
rs137854035
|
|
NM_000548.5(TSC2):c.4424_4428del (p.Val1475fs)
|
rs137854293
|
|
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His)
|
rs45517343
|
|
NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr)
|
rs777529733
|
|
NM_000548.5(TSC2):c.4438_4439insA (p.Leu1480fs)
|
rs397514963
|
|
NM_000548.5(TSC2):c.4439T>A (p.Leu1480Ter)
|
rs45446594
|
|
NM_000548.5(TSC2):c.4442dup (p.Ser1482fs)
|
rs137854312
|
|
NM_000548.5(TSC2):c.4450_4451del (p.Ala1484fs)
|
rs137854387
|
|
NM_000548.5(TSC2):c.4455A>G (p.Thr1485=)
|
rs1555514579
|
|
NM_000548.5(TSC2):c.4460C>T (p.Ser1487Phe)
|
rs766916450
|
|
NM_000548.5(TSC2):c.4461C>G (p.Ser1487=)
|
rs777104003
|
|
NM_000548.5(TSC2):c.4465G>A (p.Ala1489Thr)
|
rs587778740
|
|
NM_000548.5(TSC2):c.4468G>A (p.Glu1490Lys)
|
rs2090542133
|
|
NM_000548.5(TSC2):c.4472_4474delinsTT (p.Lys1491fs)
|
rs137854350
|
|
NM_000548.5(TSC2):c.4473A>G (p.Lys1491=)
|
rs1266546987
|
|
NM_000548.5(TSC2):c.4473dup (p.Val1492fs)
|
rs397515023
|
|
NM_000548.5(TSC2):c.4487A>T (p.Asn1496Ile)
|
rs2151538221
|
|
NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr)
|
rs45517344
|
|
NM_000548.5(TSC2):c.4489C>T (p.Pro1497Ser)
|
rs45517344
|
|
NM_000548.5(TSC2):c.4490C>G (p.Pro1497Arg)
|
rs45497997
|
|
NM_000548.5(TSC2):c.4493+15T>G
|
rs2090547818
|
|
NM_000548.5(TSC2):c.4493+1del
|
rs397514971
|
|
NM_000548.5(TSC2):c.4493+3_4493+6dup
|
rs2544292299
|
|
NM_000548.5(TSC2):c.4493+87del
|
rs397514932
|
|
NM_000548.5(TSC2):c.4493G>A (p.Ser1498Asn)
|
rs137854879
|
|
NM_000548.5(TSC2):c.4493G>C (p.Ser1498Thr)
|
rs137854879
|
|
NM_000548.5(TSC2):c.4493_4494insC (p.Val1500fs)
|
rs397515278
|
|
NM_000548.5(TSC2):c.4494-1G>A
|
rs45517346
|
|
NM_000548.5(TSC2):c.4494-1G>C
|
rs45517346
|
|
NM_000548.5(TSC2):c.4494-2A>C
|
rs397514990
|
|
NM_000548.5(TSC2):c.4494-3_4494-2del
|
rs397514950
|
|
NM_000548.5(TSC2):c.4496T>C (p.Phe1499Ser)
|
rs1596422033
|
|
NM_000548.5(TSC2):c.4496dup (p.Val1500fs)
|
rs397515194
|
|
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met)
|
rs397515167
|
|
NM_000548.5(TSC2):c.4498G>C (p.Val1500Leu)
|
rs397515167
|
|
NM_000548.5(TSC2):c.4499T>C (p.Val1500Ala)
|
rs45517347
|
|
NM_000548.5(TSC2):c.4499T>G (p.Val1500Gly)
|
rs45517347
|
|
NM_000548.5(TSC2):c.4504del (p.Leu1502fs)
|
rs137854160
|
|
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter)
|
rs45517348
|
|
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)
|
rs45516293
|
|
NM_000548.5(TSC2):c.4509G>T (p.Gln1503His)
|
rs45517349
|
|
NM_000548.5(TSC2):c.4511T>A (p.Leu1504His)
|
rs45501793
|
|
NM_000548.5(TSC2):c.4512C>G (p.Leu1504=)
|
rs771595886
|
|
NM_000548.5(TSC2):c.4515C>A (p.Tyr1505Ter)
|
rs45471791
|
|
NM_000548.5(TSC2):c.4515C>G (p.Tyr1505Ter)
|
rs45471791
|
|
NM_000548.5(TSC2):c.4516del (p.His1506fs)
|
rs137854017
|
|
NM_000548.5(TSC2):c.451A>T (p.Arg151Ter)
|
rs137854199
|
|
NM_000548.5(TSC2):c.4520C>A (p.Ser1507Tyr)
|
rs746246149
|
|
NM_000548.5(TSC2):c.4522C>T (p.Pro1508Ser)
|
rs2090582590
|
|
NM_000548.5(TSC2):c.4524C>T (p.Pro1508=)
|
rs1596422510
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.4526T>C (p.Phe1509Ser)
|
rs2544305439
|
|
NM_000548.5(TSC2):c.4532G>A (p.Gly1511Asp)
|
rs2151544129
|
|
NM_000548.5(TSC2):c.4537del (p.Glu1513fs)
|
rs137854028
|
|
NM_000548.5(TSC2):c.4538A>G (p.Glu1513Gly)
|
rs1596422775
|
|
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)
|
rs137854175
|
|
NM_000548.5(TSC2):c.4557G>T (p.Leu1519=)
|
rs1260508226
|
|
NM_000548.5(TSC2):c.4560G>T (p.Leu1520=)
|
rs1596423200
|
|
NM_000548.5(TSC2):c.4565A>T (p.Asn1522Ile)
|
rs144062721
|
|
NM_000548.5(TSC2):c.4568del (p.Glu1523fs)
|
rs137854411
|
|
NM_000548.5(TSC2):c.4569+46C>T
|
rs45482793
|
|
NM_000548.5(TSC2):c.4569+47G>A
|
rs45517351
|
|
NM_000548.5(TSC2):c.4569+50T>A
|
rs45482792
|
|
NM_000548.5(TSC2):c.4569+80G>A
|
rs397515072
|
|
NM_000548.5(TSC2):c.4570-12T>A
|
rs137854256
|
|
NM_000548.5(TSC2):c.4570-13C>G
|
rs370549253
|
|
NM_000548.5(TSC2):c.4570-21_4570-11dup
|
rs137854040
|
|
NM_000548.5(TSC2):c.4570-80A>G
|
rs397515074
|
|
NM_000548.5(TSC2):c.4570-9G>A
|
rs1323293907
|
|
NM_000548.5(TSC2):c.4570_4598dup (p.Leu1534fs)
|
rs137854150
|
|
NM_000548.5(TSC2):c.4571C>T (p.Ser1524Leu)
|
rs1441428144
|
|
NM_000548.5(TSC2):c.4572dup (p.Gln1525fs)
|
rs137854425
|
|
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter)
|
rs45517352
|
|
NM_000548.5(TSC2):c.4574A>G (p.Gln1525Arg)
|
rs1596426462
|
|
NM_000548.5(TSC2):c.4576_4582del (p.Phe1527fs)
|
rs137854407
|
|
NM_000548.5(TSC2):c.4578C>A (p.Ser1526=)
|
rs771098638
|
|
NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter)
|
rs137854329
|
|
NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln)
|
rs769834772
|
|
NM_000548.5(TSC2):c.4586G>T (p.Arg1529Leu)
|
rs769834772
|
|
NM_000548.5(TSC2):c.4589C>T (p.Ser1530Leu)
|
rs1567528487
|
|
NM_000548.5(TSC2):c.4591del (p.Val1531fs)
|
rs137854282
|
|
NM_000548.5(TSC2):c.45_51del (p.Lys16fs)
|
rs397514958
|
|
NM_000548.5(TSC2):c.45del (p.Phe15fs)
|
rs397515020
|
|
NM_000548.5(TSC2):c.4601T>A (p.Leu1534His)
|
rs137854374
|
|
NM_000548.5(TSC2):c.4602C>G (p.Leu1534=)
|
rs368534883
|
|
NM_000548.5(TSC2):c.4603G>T (p.Asp1535Tyr)
|
rs45517353
|
|
NM_000548.5(TSC2):c.4603_4605del (p.Asp1535del)
|
rs137854401
|
|
NM_000548.5(TSC2):c.4604A>C (p.Asp1535Ala)
|
rs397515160
|
|
NM_000548.5(TSC2):c.4604A>T (p.Asp1535Val)
|
rs397515160
|
|
NM_000548.5(TSC2):c.4606C>T (p.Gln1536Ter)
|
rs45495796
|
|
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.4613dup (p.Ser1539fs)
|
rs2544324324
|
|
NM_000548.5(TSC2):c.4620C>A (p.Tyr1540Ter)
|
rs45455897
|
|
NM_000548.5(TSC2):c.4620C>G (p.Tyr1540Ter)
|
rs45455897
|
|
NM_000548.5(TSC2):c.4621del (p.Asp1541fs)
|
rs397515005
|
|
NM_000548.5(TSC2):c.4629C>G (p.His1543Gln)
|
rs751873212
|
|
NM_000548.5(TSC2):c.4630_4638delinsCGTCGTGG (p.Lys1544fs)
|
rs137854308
|
|
NM_000548.5(TSC2):c.4640T>G (p.Val1547Gly)
|
rs397514988
|
|
NM_000548.5(TSC2):c.4641C>G (p.Val1547=)
|
rs1060504087
|
|
NM_000548.5(TSC2):c.4642del (p.Leu1548fs)
|
rs137854083
|
|
NM_000548.5(TSC2):c.4643T>C (p.Leu1548Pro)
|
rs397515070
|
|
NM_000548.5(TSC2):c.4645T>A (p.Tyr1549Asn)
|
rs45488595
|
|
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys)
|
rs45517355
|
|
NM_000548.5(TSC2):c.4646del (p.Tyr1549fs)
|
rs137854424
|
|
NM_000548.5(TSC2):c.4647T>A (p.Tyr1549Ter)
|
rs397515028
|
|
NM_000548.5(TSC2):c.464A>G (p.Tyr155Cys)
|
rs755177576
|
|
NM_000548.5(TSC2):c.4654G>T (p.Glu1552Ter)
|
rs397514942
|
|
NM_000548.5(TSC2):c.4654_4655dup (p.Gly1553fs)
|
rs137854111
|
|
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del)
|
rs137854146
|
|
NM_000548.5(TSC2):c.4659C>T (p.Gly1553=)
|
rs202212109
|
|
NM_000548.5(TSC2):c.465C>G (p.Tyr155Ter)
|
rs45444196
|
|
NM_000548.5(TSC2):c.4661A>C (p.Gln1554Pro)
|
rs45473296
|
|
NM_000548.5(TSC2):c.4662+1G>A
|
rs45514095
|
|
NM_000548.5(TSC2):c.4662+41G>C
|
rs45482694
|
|
NM_000548.5(TSC2):c.4662G>A (p.Gln1554=)
|
rs137854880
|
|
NM_000548.5(TSC2):c.4662G>C (p.Gln1554His)
|
rs137854880
|
|
NM_000548.5(TSC2):c.4662G>T (p.Gln1554His)
|
rs137854880
|
|
NM_000548.5(TSC2):c.4663-11_4663-5del
|
rs760527750
|
|
NM_000548.5(TSC2):c.4663-17C>G
|
rs137854192
|
|
NM_000548.5(TSC2):c.4663-1G>A
|
rs45517358
|
|
NM_000548.5(TSC2):c.4663-1G>C
|
rs45517358
|
|
NM_000548.5(TSC2):c.4663-3C>G
|
rs397514930
|
|
NM_000548.5(TSC2):c.4663-4del
|
rs2544365857
|
|
NM_000548.5(TSC2):c.4665dup (p.Asn1556fs)
|
rs397515283
|
|
NM_000548.5(TSC2):c.4667del (p.Asn1556fs)
|
rs137854416
|
|
NM_000548.5(TSC2):c.4671C>G (p.Ser1557Arg)
|
rs151140709
|
|
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4672_4684dup (p.Leu1562fs)
|
rs397515051
|
|
NM_000548.5(TSC2):c.4677C>G (p.Leu1559=)
|
rs45517361
|
|
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr)
|
rs777539610
|
|
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)
|
rs45517362
|
|
NM_000548.5(TSC2):c.4691A>G (p.Asn1564Ser)
|
rs876659806
|
|
NM_000548.5(TSC2):c.4695del (p.Glu1565fs)
|
rs137854171
|
|
NM_000548.5(TSC2):c.4697dup (p.His1566fs)
|
rs137853974
|
|
NM_000548.5(TSC2):c.469G>T (p.Glu157Ter)
|
rs45517108
|
|
NM_000548.5(TSC2):c.4700G>A (p.Gly1567Asp)
|
rs45517364
|
|
NM_000548.5(TSC2):c.4700G>T (p.Gly1567Val)
|
rs45517364
|
|
NM_000548.5(TSC2):c.4701C>T (p.Gly1567=)
|
rs763804965
|
|
NM_000548.5(TSC2):c.4704del (p.Tyr1569fs)
|
rs137854240
|
|
NM_000548.5(TSC2):c.4705_4706dup (p.Arg1570fs)
|
rs397514992
|
|
NM_000548.5(TSC2):c.4706A>G (p.Tyr1569Cys)
|
rs2090771064
|
|
NM_000548.5(TSC2):c.4707C>G (p.Tyr1569Ter)
|
rs397515277
|
|
NM_000548.5(TSC2):c.4708A>T (p.Arg1570Trp)
|
rs45517365
|
|
NM_000548.5(TSC2):c.4709G>C (p.Arg1570Thr)
|
rs397514980
|
|
NM_000548.5(TSC2):c.4711T>A (p.Tyr1571Asn)
|
rs397514905
|
|
NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys)
|
rs45478894
|
|
NM_000548.5(TSC2):c.4713C>G (p.Tyr1571Ter)
|
rs45517366
|
|
NM_000548.5(TSC2):c.4715C>T (p.Thr1572Met)
|
rs1327099376
|
|
NM_000548.5(TSC2):c.4716G>T (p.Thr1572=)
|
rs369346726
|
|
NM_000548.5(TSC2):c.4726_4782del (p.Thr1576_Leu1594del)
|
rs137854039
|
|
NM_000548.5(TSC2):c.4727C>A (p.Thr1576Lys)
|
rs45437192
|
|
NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met)
|
rs45437192
|
|
NM_000548.5(TSC2):c.4727_4753del (p.Thr1576_Leu1584del)
|
rs137854143
|
|
NM_000548.5(TSC2):c.4728G>C (p.Thr1576=)
|
rs752642825
|
|
NM_000548.5(TSC2):c.4730del (p.Gly1577fs)
|
rs397515173
|
|
NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro)
|
rs45517367
|
|
NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser)
|
rs45503995
|
|
NM_000548.5(TSC2):c.4736G>T (p.Gly1579Val)
|
rs397515222
|
|
NM_000548.5(TSC2):c.4743del (p.Ile1582fs)
|
rs137854148
|
|
NM_000548.5(TSC2):c.4744dup (p.Ile1582fs)
|
rs137854356
|
|
NM_000548.5(TSC2):c.4749G>A (p.Glu1583=)
|
rs1257270850
|
|
NM_000548.5(TSC2):c.4751T>G (p.Leu1584Arg)
|
rs137854203
|
|
NM_000548.5(TSC2):c.4752del (p.Lys1585fs)
|
rs397514937
|
|
NM_000548.5(TSC2):c.4753A>G (p.Lys1585Glu)
|
rs2151573030
|
|
NM_000548.5(TSC2):c.4754A>G (p.Lys1585Arg)
|
rs780758839
|
|
NM_000548.5(TSC2):c.4755G>C (p.Lys1585Asn)
|
rs2090778953
|
|
NM_000548.5(TSC2):c.4758C>T (p.Asp1586=)
|
rs1366814192
|
|
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter)
|
rs45479192
|
|
NM_000548.5(TSC2):c.476A>G (p.Glu159Gly)
|
rs1555497716
|
|
NM_000548.5(TSC2):c.4774del (p.Val1592fs)
|
rs137854009
|
|
NM_000548.5(TSC2):c.4777dup (p.Tyr1593fs)
|
rs397514889
|
|
NM_000548.5(TSC2):c.4779C>G (p.Tyr1593Ter)
|
rs45517368
|
|
NM_000548.5(TSC2):c.4780C>A (p.Leu1594Met)
|
rs45511204
|
|
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg)
|
rs45517369
|
|
NM_000548.5(TSC2):c.4787G>T (p.Gly1596Val)
|
rs397515014
|
|
NM_000548.5(TSC2):c.478C>G (p.Leu160Val)
|
rs45517109
|
|
NM_000548.5(TSC2):c.4790T>C (p.Leu1597Pro)
|
rs45517370
|
|
NM_000548.5(TSC2):c.4794C>G (p.Asp1598Glu)
|
rs548102930
|
|
NM_000548.5(TSC2):c.481+1G>T
|
rs45488500
|
|
NM_000548.5(TSC2):c.481+21G>C
|
rs397515040
|
|
NM_000548.5(TSC2):c.481+5G>A
|
rs137854135
|
|
NM_000548.5(TSC2):c.481+5G>T
|
rs137854135
|
|
NM_000548.5(TSC2):c.4811G>A (p.Gly1604Asp)
|
|
|
NM_000548.5(TSC2):c.4813C>T (p.Gln1605Ter)
|
rs397514888
|
|
NM_000548.5(TSC2):c.4818C>T (p.Phe1606=)
|
rs2151575594
|
|
NM_000548.5(TSC2):c.482-10T>A
|
rs2548432795
|
|
NM_000548.5(TSC2):c.482-13G>A
|
rs1221885368
|
|
NM_000548.5(TSC2):c.482-1G>C
|
rs137854306
|
|
NM_000548.5(TSC2):c.482-2A>C
|
rs45517110
|
|
NM_000548.5(TSC2):c.482-2A>G
|
rs45517110
|
|
NM_000548.5(TSC2):c.482-5C>G
|
rs397515071
|
|
NM_000548.5(TSC2):c.482-5C>T
|
rs397515071
|
|
NM_000548.5(TSC2):c.482-68C>G
|
rs2516734
|
|
NM_000548.5(TSC2):c.482-7_482-6delinsAA
|
rs137854412
|
|
NM_000548.5(TSC2):c.4820C>T (p.Thr1607Ile)
|
rs2151575668
|
|
NM_000548.5(TSC2):c.4821del (p.Tyr1608fs)
|
rs137854139
|
|
NM_000548.5(TSC2):c.4823A>C (p.Tyr1608Ser)
|
rs759795928
|
|
NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del)
|
rs137854399
|
|
NM_000548.5(TSC2):c.4825_4831del (p.Cys1609fs)
|
rs137854134
|
|
NM_000548.5(TSC2):c.4828T>G (p.Trp1610Gly)
|
rs397514966
|
|
NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter)
|
rs45517371
|
|
NM_000548.5(TSC2):c.482C>T (p.Ala161Val)
|
rs45481496
|
|
NM_000548.5(TSC2):c.482_483del (p.Ala161fs)
|
rs137854235
|
|
NM_000548.5(TSC2):c.4830G>A (p.Trp1610Ter)
|
rs45517372
|
|
NM_000548.5(TSC2):c.4830del (p.Trp1610fs)
|
rs137854230
|
|
NM_000548.5(TSC2):c.4839CAT[1] (p.Ile1614del)
|
rs137854331
|
|
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter)
|
rs45455296
|
|
NM_000548.5(TSC2):c.4849+1G>A
|
rs45517375
|
|
NM_000548.5(TSC2):c.4849+2T>A
|
rs397515281
|
|
NM_000548.5(TSC2):c.4849+34C>T
|
rs45493793
|
|
NM_000548.5(TSC2):c.4849+3A>G
|
rs1057521378
|
|
NM_000548.5(TSC2):c.4849+5G>C
|
|
|
NM_000548.5(TSC2):c.4849+5_4849+32del
|
rs2544382718
|
|
NM_000548.5(TSC2):c.4850-109T>C
|
rs13335638
|
|
NM_000548.5(TSC2):c.4850-14C>T
|
rs397515189
|
|
NM_000548.5(TSC2):c.4850-19C>G
|
rs45517376
|
|
NM_000548.5(TSC2):c.4850-1G>A
|
rs45517377
|
|
NM_000548.5(TSC2):c.4850-2A>C
|
rs397515315
|
|
NM_000548.5(TSC2):c.4850-2A>G
|
rs397515315
|
|
NM_000548.5(TSC2):c.4850-3C>G
|
rs397514982
|
|
NM_000548.5(TSC2):c.4850-9C>A
|
rs778560020
|
|
NM_000548.5(TSC2):c.4852_4860del (p.Val1618_His1620del)
|
rs137854227
|
|
NM_000548.5(TSC2):c.4854C>G (p.Val1618=)
|
rs45517378
|
|
NM_000548.5(TSC2):c.4854del (p.Phe1619fs)
|
rs137854357
|
|
NM_000548.5(TSC2):c.4855_4857del (p.Phe1619del)
|
rs397515084
|
|
NM_000548.5(TSC2):c.4856T>C (p.Phe1619Ser)
|
rs45514993
|
|
NM_000548.5(TSC2):c.4858C>T (p.His1620Tyr)
|
rs45446901
|
|
NM_000548.5(TSC2):c.4859A>G (p.His1620Arg)
|
rs397515177
|
|
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile)
|
rs397515220
|
|
NM_000548.5(TSC2):c.4869C>G (p.Thr1623=)
|
rs150239180
|
|
NM_000548.5(TSC2):c.4870_4871del (p.Leu1624fs)
|
rs137854095
|
|
NM_000548.5(TSC2):c.4870del (p.Thr1623_Leu1624insTer)
|
rs137854187
|
|
NM_000548.5(TSC2):c.4871T>C (p.Leu1624Pro)
|
rs137854221
|
|
NM_000548.5(TSC2):c.4873del (p.Met1625fs)
|
rs137854257
|
|
NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs)
|
rs137854050
|
|
NM_000548.5(TSC2):c.488_489del (p.Phe163fs)
|
rs137854122
|
|
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys)
|
rs760457821
|
|
NM_000548.5(TSC2):c.4905C>A (p.Cys1635Ter)
|
rs397514999
|
|
NM_000548.5(TSC2):c.4908_4912del (p.Asp1636fs)
|
rs2544402748
|
|
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del)
|
rs137854261
|
|
NM_000548.5(TSC2):c.4909_4910del (p.Lys1637fs)
|
rs137854049
|
|
NM_000548.5(TSC2):c.4909_4920del (p.Lys1637_His1640del)
|
rs137854267
|
|
NM_000548.5(TSC2):c.4910_4919del (p.Lys1637fs)
|
rs397515117
|
|
NM_000548.5(TSC2):c.4910dup (p.Lys1638fs)
|
rs137854233
|
|
NM_000548.5(TSC2):c.4913dup (p.Arg1639fs)
|
rs397515196
|
|
NM_000548.5(TSC2):c.4914G>C (p.Lys1638Asn)
|
rs137854094
|
|
NM_000548.5(TSC2):c.4914G>T (p.Lys1638Asn)
|
rs137854094
|
|
NM_000548.5(TSC2):c.4915_4918dup (p.His1640fs)
|
rs397515184
|
|
NM_000548.5(TSC2):c.4916G>T (p.Arg1639Leu)
|
rs137854153
|
|
NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr)
|
rs45485092
|
|
NM_000548.5(TSC2):c.4921C>G (p.Leu1641Val)
|
rs1343423120
|
|
NM_000548.5(TSC2):c.4924G>A (p.Gly1642Ser)
|
|
|
NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp)
|
rs137854343
|
|
NM_000548.5(TSC2):c.4925del (p.Gly1642fs)
|
rs137854156
|
|
NM_000548.5(TSC2):c.4927A>C (p.Asn1643His)
|
rs45517379
|
|
NM_000548.5(TSC2):c.4928A>G (p.Asn1643Ser)
|
rs45517380
|
|
NM_000548.5(TSC2):c.4928A>T (p.Asn1643Ile)
|
rs45517380
|
|
NM_000548.5(TSC2):c.4929C>G (p.Asn1643Lys)
|
rs45517381
|
|
NM_000548.5(TSC2):c.4930G>C (p.Asp1644His)
|
rs137853999
|
|
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs)
|
rs137854141
|
|
NM_000548.5(TSC2):c.4935del (p.Phe1645fs)
|
rs137854141
|
|
NM_000548.5(TSC2):c.4935dup (p.Val1646fs)
|
rs137854141
|
|
NM_000548.5(TSC2):c.4937T>G (p.Val1646Gly)
|
rs397514892
|
|
NM_000548.5(TSC2):c.4940C>T (p.Ser1647Phe)
|
rs2090863579
|
|
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)
|
rs45471896
|
|
NM_000548.5(TSC2):c.4948T>A (p.Tyr1650Asn)
|
rs137854212
|
|
NM_000548.5(TSC2):c.4949A>G (p.Tyr1650Cys)
|
rs45501091
|
|
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)
|
rs45517382
|
|
NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro)
|
rs397515159
|
|
NM_000548.5(TSC2):c.4958C>T (p.Ser1653Phe)
|
rs45517383
|
|
NM_000548.5(TSC2):c.4959C>A (p.Ser1653=)
|
rs45517384
|
|
NM_000548.5(TSC2):c.4965G>T (p.Glu1655Asp)
|
rs1336162242
|
|
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter)
|
rs45517111
|
|
NM_000548.5(TSC2):c.4970T>A (p.Phe1657Tyr)
|
rs878854112
|
|
NM_000548.5(TSC2):c.4971C>T (p.Phe1657=)
|
rs1596444029
|
|
NM_000548.5(TSC2):c.4971del (p.Phe1657fs)
|
rs137854181
|
|
NM_000548.5(TSC2):c.4974G>A (p.Lys1658=)
|
rs45511393
|
|
NM_000548.5(TSC2):c.4975C>T (p.Leu1659Phe)
|
rs45517385
|
|
NM_000548.5(TSC2):c.4989+18_4989+19insTGGTGAGTGAGGGGCCGTCA
|
rs1168388514
|
|
NM_000548.5(TSC2):c.4989+1G>A
|
rs45517386
|
|
NM_000548.5(TSC2):c.4989+1G>C
|
rs45517386
|
|
NM_000548.5(TSC2):c.4989+1G>T
|
rs45517386
|
|
NM_000548.5(TSC2):c.4989+1_4989+2insA
|
rs1555438736
|
|
NM_000548.5(TSC2):c.4989+1del
|
rs137854005
|
|
NM_000548.5(TSC2):c.4989+1dup
|
rs137854005
|
|
NM_000548.5(TSC2):c.4989+2dup
|
rs397515111
|
|
NM_000548.5(TSC2):c.4989+3G>C
|
|
|
NM_000548.5(TSC2):c.4989+6T>C
|
rs2151589973
|
|
NM_000548.5(TSC2):c.4990-6G>A
|
rs137853987
|
|
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter)
|
rs45448101
|
|
NM_000548.5(TSC2):c.4994A>T (p.Gln1665Leu)
|
rs747018176
|
|
NM_000548.5(TSC2):c.4del (p.Ala2fs)
|
rs137854295
|
|
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=)
|
rs551938797
|
|
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>A (p.Val1669Ile)
|
rs2091047035
|
|
NM_000548.5(TSC2):c.5008C>G (p.His1670Asp)
|
rs1596454994
|
|
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu)
|
rs45490993
|
|
NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe)
|
rs45490993
|
|
NM_000548.5(TSC2):c.5018T>A (p.Val1673Asp)
|
rs397515067
|
|
NM_000548.5(TSC2):c.5020A>C (p.Thr1674Pro)
|
rs45500595
|
|
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5024del (p.Pro1675fs)
|
rs397514915
|
|
NM_000548.5(TSC2):c.5025del (p.Leu1676fs)
|
rs137854382
|
|
NM_000548.5(TSC2):c.502A>C (p.Met168Leu)
|
rs779566253
|
|
NM_000548.5(TSC2):c.502A>G (p.Met168Val)
|
rs779566253
|
|
NM_000548.5(TSC2):c.5032dup (p.Tyr1678fs)
|
rs137854016
|
|
NM_000548.5(TSC2):c.5034C>A (p.Tyr1678Ter)
|
rs45467993
|
|
NM_000548.5(TSC2):c.5034C>G (p.Tyr1678Ter)
|
rs45467993
|
|
NM_000548.5(TSC2):c.5034del (p.Asp1677_Tyr1678insTer)
|
rs137854198
|
|
NM_000548.5(TSC2):c.5038T>A (p.Cys1680Ser)
|
rs1555439802
|
|
NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys)
|
rs45476793
|
|
NM_000548.5(TSC2):c.5050T>C (p.Ser1684Pro)
|
rs45517387
|
|
NM_000548.5(TSC2):c.5050_5051insGCAGGGCAGGAAAGGTAGGGCCGGGTGGGG (p.Ser1684delinsCysArgAlaGlyLysValGlyProGlyGlyAla)
|
|
|
NM_000548.5(TSC2):c.5053del (p.Leu1685fs)
|
rs137854060
|
|
NM_000548.5(TSC2):c.5056C>G (p.Gln1686Glu)
|
|
|
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter)
|
rs45517388
|
|
NM_000548.5(TSC2):c.5057A>C (p.Gln1686Pro)
|
rs397514983
|
|
NM_000548.5(TSC2):c.5057A>G (p.Gln1686Arg)
|
rs397514983
|
|
NM_000548.5(TSC2):c.5068+16dup
|
rs397514896
|
|
NM_000548.5(TSC2):c.5068+1G>A
|
rs45445199
|
|
NM_000548.5(TSC2):c.5068+22_5068+23insTGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGC
|
rs2544465021
|
|
NM_000548.5(TSC2):c.5068+27_5068+28insTGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGC
|
|
|
NM_000548.5(TSC2):c.5068+27_5069-47del
|
|
|
NM_000548.5(TSC2):c.5068+29_5068+30insTAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGGCCCTGCAGTGCAG
|
rs2544465076
|
|
NM_000548.5(TSC2):c.5068+2T>G
|
rs397515152
|
|
NM_000548.5(TSC2):c.5068G>C (p.Asp1690His)
|
rs137854882
|
|
NM_000548.5(TSC2):c.5068G>T (p.Asp1690Tyr)
|
rs137854882
|
|
NM_000548.5(TSC2):c.5069-11A>C
|
rs562381623
|
|
NM_000548.5(TSC2):c.5069-14_5069-12del
|
rs397514923
|
|
NM_000548.5(TSC2):c.5069-18A>G
|
rs45484794
|
|
NM_000548.5(TSC2):c.5069-1G>A
|
rs45517389
|
|
NM_000548.5(TSC2):c.5069-1G>C
|
rs45517389
|
|
NM_000548.5(TSC2):c.5069-1G>T
|
rs45517389
|
|
NM_000548.5(TSC2):c.5069-2A>G
|
rs45487291
|
|
NM_000548.5(TSC2):c.5069-3C>T
|
rs2091085832
|
|
NM_000548.5(TSC2):c.5069-47_5069-13dup
|
rs397515006
|
|
NM_000548.5(TSC2):c.5069-4C>T
|
rs1555440004
|
|
NM_000548.5(TSC2):c.5069-9T>C
|
rs1338116109
|
|
NM_000548.5(TSC2):c.5073G>A (p.Met1691Ile)
|
rs2091087331
|
|
NM_000548.5(TSC2):c.5075_5078del (p.Glu1692fs)
|
rs137854037
|
|
NM_000548.5(TSC2):c.5078_5081del (p.Gly1693fs)
|
rs137854280
|
|
NM_000548.5(TSC2):c.5080C>T (p.Leu1694Phe)
|
rs760781650
|
|
NM_000548.5(TSC2):c.5084T>C (p.Val1695Ala)
|
rs1420526276
|
|
NM_000548.5(TSC2):c.5084_5094del (p.Val1695fs)
|
rs137853985
|
|
NM_000548.5(TSC2):c.5090C>A (p.Thr1697Asn)
|
rs777223264
|
|
NM_000548.5(TSC2):c.5090C>G (p.Thr1697Ser)
|
rs777223264
|
|
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
|
rs45514196
|
|
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=)
|
rs45514196
|
|
NM_000548.5(TSC2):c.509_510insAT (p.Gly171fs)
|
rs397515229
|
|
NM_000548.5(TSC2):c.50T>G (p.Ile17Ser)
|
rs2548349184
|
|
NM_000548.5(TSC2):c.5100C>T (p.Ala1700=)
|
rs1172938826
|
|
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5106C>T (p.Ile1702=)
|
rs45483700
|
|
NM_000548.5(TSC2):c.5108T>C (p.Val1703Ala)
|
rs45498401
|
|
NM_000548.5(TSC2):c.5108T>G (p.Val1703Gly)
|
rs45498401
|
|
NM_000548.5(TSC2):c.5108dup (p.Ser1704fs)
|
rs397515227
|
|
NM_000548.5(TSC2):c.5109G>C (p.Val1703=)
|
rs770413433
|
|
NM_000548.5(TSC2):c.5112dup (p.Asp1705Ter)
|
rs397515205
|
|
NM_000548.5(TSC2):c.5115C>G (p.Asp1705Glu)
|
rs1385591764
|
|
NM_000548.5(TSC2):c.5116dup (p.Arg1706fs)
|
rs137853981
|
|
NM_000548.5(TSC2):c.5121C>T (p.Asn1707=)
|
rs2151621840
|
|
NM_000548.5(TSC2):c.5122del (p.Leu1708fs)
|
rs137854336
|
|
NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro)
|
rs397515274
|
|
NM_000548.5(TSC2):c.5124G>A (p.Leu1708=)
|
rs2151622005
|
|
NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg)
|
rs45517393
|
|
NM_000548.5(TSC2):c.5126C>T (p.Pro1709Leu)
|
rs45517393
|
|
NM_000548.5(TSC2):c.5127dup (p.Phe1710fs)
|
rs397515164
|
|
NM_000548.5(TSC2):c.512G>A (p.Gly171Asp)
|
rs983899092
|
|
NM_000548.5(TSC2):c.5130C>A (p.Phe1710Leu)
|
rs760978505
|
|
NM_000548.5(TSC2):c.5131G>C (p.Val1711Leu)
|
rs139779505
|
|
NM_000548.5(TSC2):c.5135C>A (p.Ala1712Asp)
|
rs45517394
|
|
NM_000548.5(TSC2):c.5136_5137del (p.Arg1713fs)
|
rs137854136
|
|
NM_000548.5(TSC2):c.5137del (p.Arg1713fs)
|
rs137854136
|
|
NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro)
|
rs45517395
|
|
NM_000548.5(TSC2):c.5138G>T (p.Arg1713Leu)
|
rs45517395
|
|
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter)
|
rs45517396
|
|
NM_000548.5(TSC2):c.5143A>G (p.Met1715Val)
|
rs397514974
|
|
NM_000548.5(TSC2):c.5144_5155del (p.Met1715_Ala1719delinsThr)
|
rs137854321
|
|
NM_000548.5(TSC2):c.5146G>C (p.Ala1716Pro)
|
rs45517397
|
|
NM_000548.5(TSC2):c.5148C>T (p.Ala1716=)
|
rs45482604
|
|
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)
|
rs45517398
|
|
NM_000548.5(TSC2):c.5152_5160+1del
|
rs137854164
|
|
NM_000548.5(TSC2):c.5154_5157dup (p.Asn1720fs)
|
rs397515202
|
|
NM_000548.5(TSC2):c.5159del (p.Asn1720fs)
|
rs137854294
|
|
NM_000548.5(TSC2):c.5160+11dup
|
rs137854048
|
|
NM_000548.5(TSC2):c.5160+1G>A
|
rs45517399
|
|
NM_000548.5(TSC2):c.5160+1G>C
|
rs45517399
|
|
NM_000548.5(TSC2):c.5160+1G>T
|
rs45517399
|
|
NM_000548.5(TSC2):c.5160+2T>C
|
rs397515170
|
|
NM_000548.5(TSC2):c.5160+2_5160+3del
|
rs137854036
|
|
NM_000548.5(TSC2):c.5160+2dup
|
rs397514969
|
|
NM_000548.5(TSC2):c.5160+3G>A
|
rs45517401
|
|
NM_000548.5(TSC2):c.5160+3G>C
|
rs45517401
|
|
NM_000548.5(TSC2):c.5160+43C>T
|
rs45517402
|
|
NM_000548.5(TSC2):c.5160+4A>G
|
rs45517403
|
|
NM_000548.5(TSC2):c.5160+5G>A
|
rs45515392
|
|
NM_000548.5(TSC2):c.5160+5G>T
|
rs45515392
|
|
NM_000548.5(TSC2):c.5160+6dup
|
rs1555440266
|
|
NM_000548.5(TSC2):c.5160T>A (p.Asn1720Lys)
|
rs137854883
|
|
NM_000548.5(TSC2):c.5160T>C (p.Asn1720=)
|
rs137854883
|
|
NM_000548.5(TSC2):c.5161-10A>G
|
rs1800718
|
|
NM_000548.5(TSC2):c.5161-10_5161-7del
|
rs137854033
|
|
NM_000548.5(TSC2):c.5161-13C>G
|
rs45517405
|
|
NM_000548.5(TSC2):c.5161-15T>C
|
rs397515279
|
|
NM_000548.5(TSC2):c.5161-1G>A
|
rs45517404
|
|
NM_000548.5(TSC2):c.5161-1G>C
|
rs45517404
|
|
NM_000548.5(TSC2):c.5161-1G>T
|
rs45517404
|
|
NM_000548.5(TSC2):c.5161-26_5161-23del
|
rs137854062
|
|
NM_000548.5(TSC2):c.5161-27_5161-25del
|
rs137854351
|
|
NM_000548.5(TSC2):c.5161-28_5161-25del
|
rs1799758
|
|
NM_000548.5(TSC2):c.5161-5C>T
|
rs775534948
|
|
NM_000548.5(TSC2):c.5161-9C>A
|
rs45515893
|
|
NM_000548.5(TSC2):c.5161A>C (p.Met1721Leu)
|
rs45517407
|
|
NM_000548.5(TSC2):c.5161del (p.Met1721fs)
|
rs137854251
|
|
NM_000548.5(TSC2):c.5164G>C (p.Ala1722Pro)
|
rs397515270
|
|
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro)
|
rs45517408
|
|
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter)
|
rs45472701
|
|
NM_000548.5(TSC2):c.5170_5171del (p.Gln1724fs)
|
rs137854085
|
|
NM_000548.5(TSC2):c.5173G>A (p.Val1725Met)
|
rs2151628159
|
|
NM_000548.5(TSC2):c.5173del (p.Val1725fs)
|
rs137854077
|
|
NM_000548.5(TSC2):c.5176dup (p.His1726fs)
|
rs397515155
|
|
NM_000548.5(TSC2):c.5177A>C (p.His1726Pro)
|
rs1555440475
|
|
NM_000548.5(TSC2):c.517T>C (p.Ser173Pro)
|
rs2151059325
|
|
NM_000548.5(TSC2):c.5184C>G (p.Ser1728Arg)
|
rs397514955
|
|
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.5190C>A (p.Ser1730=)
|
rs1305025066
|
|
NM_000548.5(TSC2):c.5192del (p.Asn1731fs)
|
rs397514973
|
|
NM_000548.5(TSC2):c.5197_5212del (p.Thr1733fs)
|
rs137854091
|
|
NM_000548.5(TSC2):c.5197dup (p.Thr1733fs)
|
rs137854414
|
|
NM_000548.5(TSC2):c.5199C>G (p.Thr1733=)
|
rs778378296
|
|
NM_000548.5(TSC2):c.5201A>C (p.Asp1734Ala)
|
rs878854117
|
|
NM_000548.5(TSC2):c.5202T>A (p.Asp1734Glu)
|
rs1748
|
|
NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val)
|
rs781407050
|
|
NM_000548.5(TSC2):c.5204_5207dup (p.Pro1737fs)
|
rs397515053
|
|
NM_000548.5(TSC2):c.5208C>A (p.Tyr1736Ter)
|
rs45517410
|
|
NM_000548.5(TSC2):c.5211C>T (p.Pro1737=)
|
rs151298910
|
|
NM_000548.5(TSC2):c.5211_5214del (p.Lys1739fs)
|
rs137854408
|
|
NM_000548.5(TSC2):c.5214dup (p.Lys1739fs)
|
rs397515139
|
|
NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter)
|
rs137854219
|
|
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser)
|
rs137854219
|
|
NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter)
|
rs45517411
|
|
NM_000548.5(TSC2):c.5220G>T (p.Trp1740Cys)
|
rs45517411
|
|
NM_000548.5(TSC2):c.5220_5225dup (p.Ile1741_Ala1742dup)
|
rs137854107
|
|
NM_000548.5(TSC2):c.5224_5241del (p.Ala1742_Ile1747del)
|
rs397515245
|
|
NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly)
|
rs45517412
|
|
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)
|
rs45517412
|
|
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)
|
rs45507199
|
|
NM_000548.5(TSC2):c.5228G>C (p.Arg1743Pro)
|
rs45507199
|
|
NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu)
|
rs45507199
|
|
NM_000548.5(TSC2):c.5229G>A (p.Arg1743=)
|
|
|
NM_000548.5(TSC2):c.5230C>T (p.Leu1744Phe)
|
rs1567132207
|
|
NM_000548.5(TSC2):c.5230_5236del (p.Leu1744fs)
|
rs397515001
|
|
NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro)
|
rs45517413
|
|
NM_000548.5(TSC2):c.5232C>G (p.Leu1744=)
|
rs772865175
|
|
NM_000548.5(TSC2):c.5234_5237del (p.Arg1745fs)
|
rs137854396
|
|
NM_000548.5(TSC2):c.5234_5238del (p.Arg1745fs)
|
rs137854002
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000548.5(TSC2):c.523G>A (p.Glu175Lys)
|
rs1555498151
|
|
NM_000548.5(TSC2):c.5246G>A (p.Arg1749Gln)
|
rs1555440785
|
|
NM_000548.5(TSC2):c.5247del (p.Leu1750fs)
|
rs397515109
|
|
NM_000548.5(TSC2):c.5247dup (p.Leu1750fs)
|
rs397515109
|
|
NM_000548.5(TSC2):c.5248C>T (p.Leu1750Phe)
|
rs45459299
|
|
NM_000548.5(TSC2):c.5249T>C (p.Leu1750Pro)
|
rs397515217
|
|
NM_000548.5(TSC2):c.5250C>A (p.Leu1750=)
|
rs370353005
|
|
NM_000548.5(TSC2):c.5252_5259+19del
|
rs137854397
|
|
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter)
|
rs45517414
|
|
NM_000548.5(TSC2):c.5258G>C (p.Arg1753Pro)
|
rs749487441
|
|
NM_000548.5(TSC2):c.5259+1del
|
rs137854317
|
|
NM_000548.5(TSC2):c.5259+2T>A
|
|
|
NM_000548.5(TSC2):c.5259+38C>G
|
rs45517415
|
|
NM_000548.5(TSC2):c.5259+3A>G
|
rs1555440897
|
|
NM_000548.5(TSC2):c.5259+50_5275del
|
rs2091168537
|
|
NM_000548.5(TSC2):c.525del (p.Glu175fs)
|
rs137854277
|
|
NM_000548.5(TSC2):c.5260-10C>T
|
rs2091183190
|
|
NM_000548.5(TSC2):c.5260-10_5278del
|
rs756272343
|
|
NM_000548.5(TSC2):c.5260-25C>G
|
rs13332222
|
|
NM_000548.5(TSC2):c.5260-42C>T
|
rs45517417
|
|
NM_000548.5(TSC2):c.5261T>G (p.Ile1754Ser)
|
rs762320484
|
|
NM_000548.5(TSC2):c.5262C>A (p.Ile1754=)
|
rs397515318
|
|
NM_000548.5(TSC2):c.5262C>T (p.Ile1754=)
|
rs397515318
|
|
NM_000548.5(TSC2):c.5267A>G (p.Glu1756Gly)
|
rs886051797
|
|
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys)
|
rs1060500957
|
|
NM_000548.5(TSC2):c.5269_5270dup (p.Ala1758fs)
|
rs397514925
|
|
NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro)
|
rs1555441169
|
|
NM_000548.5(TSC2):c.5276C>A (p.Ala1759Asp)
|
rs45477298
|
|
NM_000548.5(TSC2):c.5284A>C (p.Asn1762His)
|
rs1567133600
|
|
NM_000548.5(TSC2):c.5285del (p.Asn1762fs)
|
rs137854169
|
|
NM_000548.5(TSC2):c.5293C>T (p.Leu1765=)
|
rs1060500954
|
|
NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu)
|
rs748936673
|
|
NM_000548.5(TSC2):c.529del (p.Leu177fs)
|
rs137853991
|
|
NM_000548.5(TSC2):c.5301G>A (p.Leu1767=)
|
rs886051798
|
|
NM_000548.5(TSC2):c.5303T>C (p.Val1768Ala)
|
rs1171556696
|
|
NM_000548.5(TSC2):c.5315C>T (p.Ser1772Phe)
|
rs2151639562
|
|
NM_000548.5(TSC2):c.5318A>C (p.His1773Pro)
|
rs45517418
|
|
NM_000548.5(TSC2):c.5340_5371del (p.Pro1784fs)
|
rs137854420
|
|
NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu)
|
rs878854119
|
|
NM_000548.5(TSC2):c.5345C>G (p.Ala1782Gly)
|
rs2091206453
|
|
NM_000548.5(TSC2):c.5346C>T (p.Ala1782=)
|
rs557200243
|
|
NM_000548.5(TSC2):c.5359G>C (p.Gly1787Arg)
|
rs45517419
|
|
NM_000548.5(TSC2):c.5363A>T (p.Tyr1788Phe)
|
rs397515221
|
|
NM_000548.5(TSC2):c.5365G>C (p.Glu1789Gln)
|
rs45517420
|
|
NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp)
|
rs966695764
|
|
NM_000548.5(TSC2):c.5371G>A (p.Gly1791Ser)
|
rs45517421
|
|
NM_000548.5(TSC2):c.5376G>C (p.Gln1792His)
|
rs45517422
|
|
NM_000548.5(TSC2):c.5380_5382dup (p.Lys1794dup)
|
rs137854335
|
|
NM_000548.5(TSC2):c.5381A>G (p.Lys1794Arg)
|
rs756064266
|
|
NM_000548.5(TSC2):c.5383C>G (p.Arg1795Gly)
|
rs45517423
|
|
NM_000548.5(TSC2):c.5384G>T (p.Arg1795Leu)
|
rs137854288
|
|
NM_000548.5(TSC2):c.5386C>A (p.Leu1796Ile)
|
rs45455398
|
|
NM_000548.5(TSC2):c.5387_5388insTCATCTCCTCGGTGGAGGACT (p.Leu1796_Ile1797insHisLeuLeuGlyGlyGlyLeu)
|
rs2544519081
|
|
NM_000548.5(TSC2):c.5388dup (p.Ile1797fs)
|
rs137854130
|
|
NM_000548.5(TSC2):c.5391CTC[1] (p.Ser1799del)
|
rs796053480
|
|
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=)
|
rs1051771
|
|
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=)
|
rs1051771
|
|
NM_000548.5(TSC2):c.5402_5403del (p.Glu1801fs)
|
rs397514972
|
|
NM_000548.5(TSC2):c.5403G>A (p.Glu1801=)
|
rs1060500918
|
|
NM_000548.5(TSC2):c.5408dup (p.Thr1804fs)
|
rs137854228
|
|
NM_000548.5(TSC2):c.540G>A (p.Leu180=)
|
rs1567403619
|
|
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys)
|
rs376017665
|
|
NM_000548.5(TSC2):c.5414dup (p.Phe1806fs)
|
rs397515143
|
|
NM_000548.5(TSC2):c.5418_5419insTG (p.Val1807fs)
|
rs2544522021
|
|
NM_000548.5(TSC2):c.5419G>T (p.Val1807Leu)
|
rs45486402
|
|
NM_000548.5(TSC2):c.5420T>C (p.Val1807Ala)
|
rs2544522065
|
|
NM_000548.5(TSC2):c.5420_5423del (p.Val1807fs)
|
rs137854027
|
|
NM_000548.5(TSC2):c.5421G>A (p.Val1807=)
|
rs1596464773
|
|
NM_000548.5(TSC2):c.5422T>A (p.Ter1808Arg)
|
rs1567135442
|
|
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?)
|
rs137854027
|
|
NM_000548.5(TSC2):c.548T>A (p.Leu183Ter)
|
rs45470502
|
|
NM_000548.5(TSC2):c.552C>G (p.Val184=)
|
rs199991910
|
|
NM_000548.5(TSC2):c.560A>T (p.Asn187Ile)
|
rs45505405
|
|
NM_000548.5(TSC2):c.565_575del (p.Cys189fs)
|
rs397515120
|
|
NM_000548.5(TSC2):c.566G>C (p.Cys189Ser)
|
rs764218079
|
|
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter)
|
rs137854359
|
|
NM_000548.5(TSC2):c.570C>A (p.Tyr190Ter)
|
rs397515099
|
|
NM_000548.5(TSC2):c.573C>G (p.Leu191=)
|
rs397515059
|
|
NM_000548.5(TSC2):c.574G>A (p.Asp192Asn)
|
rs1284679649
|
|
NM_000548.5(TSC2):c.576C>A (p.Asp192Glu)
|
rs761704292
|
|
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter)
|
rs45517112
|
|
NM_000548.5(TSC2):c.585C>A (p.Ile195=)
|
rs397515309
|
|
NM_000548.5(TSC2):c.589dup (p.Arg197fs)
|
rs137854172
|
|
NM_000548.5(TSC2):c.591del (p.Met198fs)
|
rs137854300
|
|
NM_000548.5(TSC2):c.593T>C (p.Met198Thr)
|
rs45517114
|
|
NM_000548.5(TSC2):c.598C>T (p.Gln200Ter)
|
rs45517115
|
|
NM_000548.5(TSC2):c.599+1G>A
|
rs45460895
|
|
NM_000548.5(TSC2):c.599+2T>G
|
rs45484992
|
|
NM_000548.5(TSC2):c.599+4A>G
|
rs397515140
|
|
NM_000548.5(TSC2):c.599+5G>A
|
rs45463996
|
|
NM_000548.5(TSC2):c.599+5G>C
|
rs45463996
|
|
NM_000548.5(TSC2):c.600-11G>A
|
rs1346678348
|
|
NM_000548.5(TSC2):c.600-145C>T
|
|
|
NM_000548.5(TSC2):c.600-15C>A
|
rs369708731
|
|
NM_000548.5(TSC2):c.600-1G>A
|
rs45517117
|
|
NM_000548.5(TSC2):c.600-2A>G
|
rs45468592
|
|
NM_000548.5(TSC2):c.600-36C>T
|
rs397515057
|
|
NM_000548.5(TSC2):c.600-4G>T
|
rs976201466
|
|
NM_000548.5(TSC2):c.600-5T>C
|
rs779176291
|
|
NM_000548.5(TSC2):c.609T>C (p.Cys203=)
|
rs1596275256
|
|
NM_000548.5(TSC2):c.60A>G (p.Gly20=)
|
rs1060504108
|
|
NM_000548.5(TSC2):c.610C>T (p.Leu204=)
|
rs1439997904
|
|
NM_000548.5(TSC2):c.614T>C (p.Leu205Pro)
|
rs2085789314
|
|
NM_000548.5(TSC2):c.618C>A (p.Cys206Ter)
|
rs45498496
|
|
NM_000548.5(TSC2):c.630G>C (p.Ala210=)
|
rs567756494
|
|
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe)
|
rs878854120
|
|
NM_000548.5(TSC2):c.633del (p.Ser212fs)
|
rs137854205
|
|
NM_000548.5(TSC2):c.637G>A (p.Val213Met)
|
rs1060500927
|
|
NM_000548.5(TSC2):c.646G>C (p.Glu216Gln)
|
rs45517118
|
|
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter)
|
rs45517118
|
|
NM_000548.5(TSC2):c.648+1G>A
|
rs45488893
|
|
NM_000548.5(TSC2):c.648+5G>C
|
rs2085796888
|
|
NM_000548.5(TSC2):c.649-11C>T
|
|
|
NM_000548.5(TSC2):c.649-12C>T
|
rs1596277751
|
|
NM_000548.5(TSC2):c.649-1G>A
|
rs794727906
|
|
NM_000548.5(TSC2):c.655del (p.Leu219fs)
|
rs397515286
|
|
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro)
|
rs397515249
|
|
NM_000548.5(TSC2):c.657del (p.Gln220fs)
|
rs397515181
|
|
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter)
|
rs45517119
|
|
NM_000548.5(TSC2):c.665T>C (p.Leu222Pro)
|
rs45517120
|
|
NM_000548.5(TSC2):c.665_671del (p.Leu222fs)
|
rs397514921
|
|
NM_000548.5(TSC2):c.667G>C (p.Asp223His)
|
rs45517121
|
|
NM_000548.5(TSC2):c.667G>T (p.Asp223Tyr)
|
rs45517121
|
|
NM_000548.5(TSC2):c.668A>G (p.Asp223Gly)
|
rs2151078058
|
|
NM_000548.5(TSC2):c.670G>A (p.Ala224Thr)
|
rs772558666
|
|
NM_000548.5(TSC2):c.672del (p.Val225fs)
|
rs137854174
|
|
NM_000548.5(TSC2):c.680G>A (p.Cys227Tyr)
|
rs45517122
|
|
NM_000548.5(TSC2):c.684C>A (p.Tyr228Ter)
|
rs397515034
|
|
NM_000548.5(TSC2):c.684del (p.Cys227_Tyr228insTer)
|
rs397515124
|
|
NM_000548.5(TSC2):c.688T>A (p.Cys230Ser)
|
rs1043187800
|
|
NM_000548.5(TSC2):c.6_12delinsAAAGATTCAGGCTTGAAGGAGAAGTTTAAGATCC (p.Pro4delinsIleGlnAlaTer)
|
|
|
NM_000548.5(TSC2):c.700G>T (p.Glu234Ter)
|
rs397515018
|
|
NM_000548.5(TSC2):c.707dup (p.Leu238fs)
|
rs137854056
|
|
NM_000548.5(TSC2):c.709_710dup (p.Leu238fs)
|
rs397515166
|
|
NM_000548.5(TSC2):c.710del (p.Pro237fs)
|
rs397515166
|
|
NM_000548.5(TSC2):c.716T>G (p.Phe239Cys)
|
rs778544723
|
|
NM_000548.5(TSC2):c.718A>G (p.Ile240Val)
|
rs796053482
|
|
NM_000548.5(TSC2):c.720_722del (p.Val241del)
|
rs397514893
|
|
NM_000548.5(TSC2):c.724dup (p.Thr242fs)
|
rs397515256
|
|
NM_000548.5(TSC2):c.726C>T (p.Thr242=)
|
rs570051626
|
|
NM_000548.5(TSC2):c.727del (p.Leu243fs)
|
rs397514956
|
|
NM_000548.5(TSC2):c.729_730del (p.Cys244fs)
|
rs137854236
|
|
NM_000548.5(TSC2):c.730T>C (p.Cys244Arg)
|
rs137854101
|
|
NM_000548.5(TSC2):c.731G>A (p.Cys244Tyr)
|
rs45517124
|
|
NM_000548.5(TSC2):c.731_732del (p.Cys244fs)
|
rs137854191
|
|
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)
|
rs137854123
|
|
NM_000548.5(TSC2):c.745G>C (p.Val249Leu)
|
rs750649974
|
|
NM_000548.5(TSC2):c.746T>C (p.Val249Ala)
|
rs1596278719
|
|
NM_000548.5(TSC2):c.758G>T (p.Cys253Phe)
|
rs766547457
|
|
NM_000548.5(TSC2):c.759C>A (p.Cys253Ter)
|
rs45517125
|
|
NM_000548.5(TSC2):c.760G>T (p.Glu254Ter)
|
rs45517126
|
|
NM_000548.5(TSC2):c.764C>A (p.Pro255His)
|
rs2085896951
|
|
NM_000548.5(TSC2):c.764C>G (p.Pro255Arg)
|
rs2085896951
|
|
NM_000548.5(TSC2):c.767dup (p.Cys256fs)
|
rs137854025
|
|
NM_000548.5(TSC2):c.768C>A (p.Cys256Ter)
|
rs45517127
|
|
NM_000548.5(TSC2):c.774+1G>A
|
rs45517128
|
|
NM_000548.5(TSC2):c.774+1G>C
|
rs45517128
|
|
NM_000548.5(TSC2):c.774+1G>T
|
rs45517128
|
|
NM_000548.5(TSC2):c.774+24G>T
|
rs397515312
|
|
NM_000548.5(TSC2):c.774+28G>C
|
rs137854195
|
|
NM_000548.5(TSC2):c.774+2T>A
|
rs45517129
|
|
NM_000548.5(TSC2):c.774G>C (p.Lys258Asn)
|
rs137854875
|
|
NM_000548.5(TSC2):c.775-10T>A
|
rs1555499018
|
|
NM_000548.5(TSC2):c.775-17C>A
|
rs137854299
|
|
NM_000548.5(TSC2):c.775-1G>A
|
rs45454192
|
|
NM_000548.5(TSC2):c.775-3C>G
|
rs397514909
|
|
NM_000548.5(TSC2):c.775-3C>T
|
rs397514909
|
|
NM_000548.5(TSC2):c.779T>C (p.Met260Thr)
|
rs2548472429
|
|
NM_000548.5(TSC2):c.77C>T (p.Pro26Leu)
|
rs1555494636
|
|
NM_000548.5(TSC2):c.781C>G (p.Arg261Gly)
|
rs45517130
|
|
NM_000548.5(TSC2):c.782G>C (p.Arg261Pro)
|
rs45502703
|
|
NM_000548.5(TSC2):c.791T>C (p.Leu264Pro)
|
rs45517131
|
|
NM_000548.5(TSC2):c.79A>G (p.Asn27Asp)
|
rs2084677815
|
|
NM_000548.5(TSC2):c.801C>T (p.His267=)
|
rs2548473179
|
|
NM_000548.5(TSC2):c.810C>T (p.His270=)
|
rs1596280678
|
|
NM_000548.5(TSC2):c.811A>G (p.Ser271Gly)
|
rs1555499071
|
|
NM_000548.5(TSC2):c.814G>T (p.Ala272Ser)
|
rs373818076
|
|
NM_000548.5(TSC2):c.818T>C (p.Ile273Thr)
|
rs1366677287
|
|
NM_000548.5(TSC2):c.81T>A (p.Asn27Lys)
|
rs2548350127
|
|
NM_000548.5(TSC2):c.821ACA[1] (p.Asn275del)
|
rs397514926
|
|
NM_000548.5(TSC2):c.825C>A (p.Asn275Lys)
|
rs45468594
|
|
NM_000548.5(TSC2):c.825C>G (p.Asn275Lys)
|
rs45468594
|
|
NM_000548.5(TSC2):c.826A>G (p.Met276Val)
|
rs1238874343
|
|
NM_000548.5(TSC2):c.826_827del (p.Met276fs)
|
rs137853977
|
|
NM_000548.5(TSC2):c.832dup (p.His278fs)
|
rs137854020
|
|
NM_000548.5(TSC2):c.833A>C (p.His278Pro)
|
rs397515266
|
|
NM_000548.5(TSC2):c.833A>G (p.His278Arg)
|
rs397515266
|
|
NM_000548.5(TSC2):c.846C>A (p.Asp282Glu)
|
rs587778734
|
|
NM_000548.5(TSC2):c.848+1G>A
|
rs45466296
|
|
NM_000548.5(TSC2):c.848+281C>T
|
rs45517132
|
|
NM_000548.5(TSC2):c.848+39G>T
|
rs45453000
|
|
NM_000548.5(TSC2):c.848+3del
|
rs137854057
|
|
NM_000548.5(TSC2):c.848+5G>T
|
rs1370989559
|
|
NM_000548.5(TSC2):c.849-17C>T
|
rs45517133
|
|
NM_000548.5(TSC2):c.849-1G>A
|
rs45506396
|
|
NM_000548.5(TSC2):c.849-1G>C
|
rs45506396
|
|
NM_000548.5(TSC2):c.849-2A>G
|
rs45517134
|
|
NM_000548.5(TSC2):c.849-3T>G
|
rs45489591
|
|
NM_000548.5(TSC2):c.849-53G>A
|
rs45517135
|
|
NM_000548.5(TSC2):c.856A>C (p.Met286Leu)
|
rs1800748
|
|
NM_000548.5(TSC2):c.859G>A (p.Glu287Lys)
|
rs397515300
|
|
NM_000548.5(TSC2):c.859G>T (p.Glu287Ter)
|
rs397515300
|
|
NM_000548.5(TSC2):c.861G>A (p.Glu287=)
|
rs192567788
|
|
NM_000548.5(TSC2):c.871dup (p.Leu291fs)
|
rs137854052
|
|
NM_000548.5(TSC2):c.875T>C (p.Leu292Pro)
|
rs45517138
|
|
NM_000548.5(TSC2):c.879_880del (p.Gly294fs)
|
rs137854364
|
|
NM_000548.5(TSC2):c.87G>A (p.Arg29=)
|
rs1010489256
|
|
NM_000548.5(TSC2):c.880G>A (p.Gly294Arg)
|
rs45517139
|
|
NM_000548.5(TSC2):c.881G>A (p.Gly294Glu)
|
rs45487497
|
|
NM_000548.5(TSC2):c.889_890delinsA (p.Phe297fs)
|
rs137853976
|
|
NM_000548.5(TSC2):c.894dup (p.Val299fs)
|
rs137854024
|
|
NM_000548.5(TSC2):c.896T>G (p.Val299Gly)
|
rs397514986
|
|
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.900_914dup (p.Met301_Gly305dup)
|
rs137854259
|
|
NM_000548.5(TSC2):c.902T>A (p.Met301Lys)
|
rs1060500949
|
|
NM_000548.5(TSC2):c.907C>A (p.Leu303Ile)
|
rs1060500943
|
|
NM_000548.5(TSC2):c.907C>T (p.Leu303Phe)
|
rs1060500943
|
|
NM_000548.5(TSC2):c.909_910dup (p.Trp304fs)
|
rs397515253
|
|
NM_000548.5(TSC2):c.909_928del (p.Trp304fs)
|
rs137854012
|
|
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)
|
rs397515108
|
|
NM_000548.5(TSC2):c.910_911del (p.Trp304fs)
|
rs397515106
|
|
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter)
|
rs45517140
|
|
NM_000548.5(TSC2):c.912G>A (p.Trp304Ter)
|
rs397514884
|
|
NM_000548.5(TSC2):c.916G>T (p.Ala306Ser)
|
rs1215705768
|
|
NM_000548.5(TSC2):c.917C>T (p.Ala306Val)
|
rs2086235107
|
|
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly)
|
rs201144475
|
|
NM_000548.5(TSC2):c.925del (p.Leu309fs)
|
rs137854138
|
|
NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln)
|
rs137853986
|
|
NM_000548.5(TSC2):c.926del (p.Leu309fs)
|
rs397515190
|
|
NM_000548.5(TSC2):c.927C>T (p.Leu309=)
|
rs79786059
|
|
NM_000548.5(TSC2):c.928dup (p.Tyr310fs)
|
rs397515031
|
|
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.930T>C (p.Tyr310=)
|
rs886041758
|
|
NM_000548.5(TSC2):c.931T>C (p.Ser311Pro)
|
rs775590764
|
|
NM_000548.5(TSC2):c.936C>G (p.Leu312=)
|
rs2086239603
|
|
NM_000548.5(TSC2):c.940_941insCT (p.Asn314fs)
|
rs137854386
|
|
NM_000548.5(TSC2):c.947C>T (p.Pro316Leu)
|
rs751490043
|
|
NM_000548.5(TSC2):c.949_950insTA (p.Thr317fs)
|
rs397515153
|
|
NM_000548.5(TSC2):c.94G>C (p.Glu32Gln)
|
rs2084679567
|
|
NM_000548.5(TSC2):c.953C>T (p.Ser318Phe)
|
rs1060500970
|
|
NM_000548.5(TSC2):c.955G>A (p.Val319Met)
|
rs1432086775
|
|
NM_000548.5(TSC2):c.956dup (p.Leu320fs)
|
rs137854263
|
|
NM_000548.5(TSC2):c.957_958del (p.Leu320fs)
|
rs137854347
|
|
NM_000548.5(TSC2):c.960G>T (p.Leu320Phe)
|
rs1131825
|
|
NM_000548.5(TSC2):c.96G>A (p.Glu32=)
|
rs1567380772
|
|
NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter)
|
rs45517143
|
|
NM_000548.5(TSC2):c.972C>G (p.Tyr324Ter)
|
rs45517143
|
|
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter)
|
rs397515097
|
|
NM_000548.5(TSC2):c.975+1G>A
|
rs137854200
|
|
NM_000548.5(TSC2):c.975+1G>T
|
rs137854200
|
|
NM_000548.5(TSC2):c.975+1del
|
rs137854388
|
|
NM_000548.5(TSC2):c.975+5G>C
|
rs45458600
|
|
NM_000548.5(TSC2):c.975+5G>T
|
rs45458600
|
|
NM_000548.5(TSC2):c.975G>C (p.Gln325His)
|
rs1567416259
|
|
NM_000548.5(TSC2):c.976-14G>A
|
rs397515186
|
|
NM_000548.5(TSC2):c.976-14G>C
|
rs397515186
|
|
NM_000548.5(TSC2):c.976-15G>A
|
rs45517150
|
|
NM_000548.5(TSC2):c.976-1G>A
|
rs45451199
|
|
NM_000548.5(TSC2):c.976-1G>T
|
rs45451199
|
|
NM_000548.5(TSC2):c.976-3C>G
|
rs45517151
|
|
NM_000548.5(TSC2):c.976-40G>A
|
rs137854031
|
|
NM_000548.5(TSC2):c.978dup (p.Met327fs)
|
rs397514960
|
|
NM_000548.5(TSC2):c.979_980dup (p.Met327fs)
|
rs397515176
|
|
NM_000548.5(TSC2):c.982G>A (p.Ala328Thr)
|
rs45517152
|
|
NM_000548.5(TSC2):c.982G>C (p.Ala328Pro)
|
rs45517152
|
|
NM_000548.5(TSC2):c.989C>G (p.Pro330Arg)
|
rs140910086
|
|
NM_000548.5(TSC2):c.98G>A (p.Gly33Asp)
|
rs1352220583
|
|
NM_000548.5(TSC2):c.993C>A (p.Asn331Lys)
|
rs45517153
|
|
NM_000548.5(TSC2):c.993C>G (p.Asn331Lys)
|
rs45517153
|
|
TSC1:c.1142-22_1142-21del
|
rs118203500
|
|
p.?
|
|
|