NM_000548.5(TSC2):c.4850-19C>T
|
rs45517376
|
0.00032
|
NM_000548.5(TSC2):c.1120-17C>T
|
rs201704675
|
0.00026
|
NM_000548.5(TSC2):c.2742+14C>T
|
rs765251896
|
0.00023
|
NM_000548.5(TSC2):c.2837+11dup
|
rs137854204
|
0.00022
|
NM_000548.5(TSC2):c.4662+17G>A
|
rs45443002
|
0.00019
|
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp)
|
rs373939435
|
0.00014
|
NM_000548.5(TSC2):c.4398G>T (p.Ser1466=)
|
rs376086638
|
0.00013
|
NM_000548.5(TSC2):c.5200G>A (p.Asp1734Asn)
|
rs751990617
|
0.00013
|
NM_000548.5(TSC2):c.4006-19T>G
|
rs200900825
|
0.00009
|
NM_000548.5(TSC2):c.481+12C>T
|
rs777645015
|
0.00009
|
NM_000548.5(TSC2):c.599+17G>C
|
rs533989586
|
0.00009
|
NM_000548.5(TSC2):c.926T>A (p.Leu309His)
|
rs75348431
|
0.00009
|
NM_000548.5(TSC2):c.927C>G (p.Leu309=)
|
rs79786059
|
0.00009
|
NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met)
|
rs776738338
|
0.00008
|
NM_000548.5(TSC2):c.4569+12C>T
|
rs45517350
|
0.00008
|
NM_000548.5(TSC2):c.1120-16G>A
|
rs768241936
|
0.00007
|
NM_000548.5(TSC2):c.2220+12G>A
|
rs780039835
|
0.00007
|
NM_000548.5(TSC2):c.5259+9T>C
|
rs1057522018
|
0.00007
|
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)
|
rs139060277
|
0.00007
|
NM_000548.5(TSC2):c.1341G>A (p.Ala447=)
|
rs141609319
|
0.00006
|
NM_000548.5(TSC2):c.1717-15G>T
|
rs372949465
|
0.00006
|
NM_000548.5(TSC2):c.1946+15G>A
|
rs752601710
|
0.00006
|
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys)
|
rs760489473
|
0.00006
|
NM_000548.5(TSC2):c.2546-6C>T
|
rs372088609
|
0.00006
|
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile)
|
rs146745242
|
0.00006
|
NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp)
|
rs777489742
|
0.00006
|
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met)
|
rs772687631
|
0.00006
|
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His)
|
rs137854288
|
0.00006
|
NM_000548.5(TSC2):c.600-15C>T
|
rs369708731
|
0.00006
|
NM_000548.5(TSC2):c.648+6T>C
|
rs372007135
|
0.00006
|
NM_000548.5(TSC2):c.649-17G>A
|
rs757405342
|
0.00006
|
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val)
|
rs397515296
|
0.00005
|
NM_000548.5(TSC2):c.1839+19C>T
|
rs746001352
|
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.2584G>A (p.Ala862Thr)
|
rs759837836
|
0.00005
|
NM_000548.5(TSC2):c.282G>A (p.Pro94=)
|
rs145624233
|
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.5068+11G>A
|
rs199999832
|
0.00005
|
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His)
|
rs760395277
|
0.00005
|
NM_000548.5(TSC2):c.1303C>T (p.His435Tyr)
|
rs760896048
|
0.00004
|
NM_000548.5(TSC2):c.1600-9T>C
|
rs886043268
|
0.00004
|
NM_000548.5(TSC2):c.1716+16G>A
|
rs45517189
|
0.00004
|
NM_000548.5(TSC2):c.1839+20G>A
|
rs569912958
|
0.00004
|
NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr)
|
rs758301934
|
0.00004
|
NM_000548.5(TSC2):c.2163G>A (p.Val721=)
|
rs552644975
|
0.00004
|
NM_000548.5(TSC2):c.225+5G>T
|
rs778371172
|
0.00004
|
NM_000548.5(TSC2):c.2510C>G (p.Ala837Gly)
|
rs139919040
|
0.00004
|
NM_000548.5(TSC2):c.2545+10C>T
|
rs45517241
|
0.00004
|
NM_000548.5(TSC2):c.2668C>T (p.His890Tyr)
|
rs145258407
|
0.00004
|
NM_000548.5(TSC2):c.2742+15G>A
|
rs45517261
|
0.00004
|
NM_000548.5(TSC2):c.2785G>A (p.Glu929Lys)
|
rs45517268
|
0.00004
|
NM_000548.5(TSC2):c.2859C>T (p.Pro953=)
|
rs397514968
|
0.00004
|
NM_000548.5(TSC2):c.2966+14C>T
|
rs377238278
|
0.00004
|
NM_000548.5(TSC2):c.3192C>A (p.Asn1064Lys)
|
rs201670791
|
0.00004
|
NM_000548.5(TSC2):c.3584C>T (p.Ala1195Val)
|
rs773951533
|
0.00004
|
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val)
|
rs753907159
|
0.00004
|
NM_000548.5(TSC2):c.4332C>T (p.Pro1444=)
|
rs373973956
|
0.00004
|
NM_000548.5(TSC2):c.4662+11G>A
|
rs761569930
|
0.00004
|
NM_000548.5(TSC2):c.4867A>T (p.Thr1623Ser)
|
rs749501410
|
0.00004
|
NM_000548.5(TSC2):c.4990-3C>T
|
rs777928103
|
0.00004
|
NM_000548.5(TSC2):c.5010C>T (p.His1670=)
|
rs376306544
|
0.00004
|
NM_000548.5(TSC2):c.5122C>T (p.Leu1708=)
|
rs1168265181
|
0.00004
|
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu)
|
rs749326176
|
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.5331T>C (p.Pro1777=)
|
rs370820622
|
0.00004
|
NM_000548.5(TSC2):c.585C>T (p.Ile195=)
|
rs397515309
|
0.00004
|
NM_000548.5(TSC2):c.1059C>T (p.Leu353=)
|
rs796053472
|
0.00003
|
NM_000548.5(TSC2):c.108G>A (p.Thr36=)
|
rs781075483
|
0.00003
|
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)
|
rs45517148
|
0.00003
|
NM_000548.5(TSC2):c.1257+17G>T
|
rs369939081
|
0.00003
|
NM_000548.5(TSC2):c.1258-5G>T
|
rs925954967
|
0.00003
|
NM_000548.5(TSC2):c.1317C>T (p.Asp439=)
|
rs777457815
|
0.00003
|
NM_000548.5(TSC2):c.138+18G>A
|
rs966402370
|
0.00003
|
NM_000548.5(TSC2):c.139-15T>G
|
rs563094714
|
0.00003
|
NM_000548.5(TSC2):c.1443+12G>C
|
rs771129412
|
0.00003
|
NM_000548.5(TSC2):c.1443+14C>T
|
rs753454333
|
0.00003
|
NM_000548.5(TSC2):c.1599+18C>T
|
rs758214726
|
0.00003
|
NM_000548.5(TSC2):c.1753C>T (p.Arg585Cys)
|
rs370324876
|
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.1882C>T (p.Arg628Cys)
|
rs45437797
|
0.00003
|
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp)
|
rs766451267
|
0.00003
|
NM_000548.5(TSC2):c.1947-4G>C
|
rs201633455
|
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.2039G>A (p.Arg680Gln)
|
rs756536921
|
0.00003
|
NM_000548.5(TSC2):c.2097+13G>A
|
rs367915255
|
0.00003
|
NM_000548.5(TSC2):c.2098-13C>T
|
rs375903453
|
0.00003
|
NM_000548.5(TSC2):c.2220+11C>T
|
rs372555496
|
0.00003
|
NM_000548.5(TSC2):c.2355+20C>T
|
rs1031112467
|
0.00003
|
NM_000548.5(TSC2):c.2545+9C>G
|
rs369385105
|
0.00003
|
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)
|
rs45517249
|
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.2837+12G>A
|
rs755041349
|
0.00003
|
NM_000548.5(TSC2):c.2966+6G>A
|
rs878854088
|
0.00003
|
NM_000548.5(TSC2):c.3132-16G>A
|
rs199572528
|
0.00003
|
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys)
|
rs796053492
|
0.00003
|
NM_000548.5(TSC2):c.3158C>T (p.Ala1053Val)
|
rs760214724
|
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.325G>A (p.Val109Met)
|
rs369932305
|
0.00003
|
NM_000548.5(TSC2):c.3284+15C>T
|
rs939235755
|
0.00003
|
NM_000548.5(TSC2):c.3285-18G>A
|
rs752756174
|
0.00003
|
NM_000548.5(TSC2):c.3342C>T (p.Ser1114=)
|
rs755871381
|
0.00003
|
NM_000548.5(TSC2):c.3398-19C>T
|
rs969734217
|
0.00003
|
NM_000548.5(TSC2):c.3447C>T (p.Phe1149=)
|
rs1265832990
|
0.00003
|
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=)
|
rs769562717
|
0.00003
|
NM_000548.5(TSC2):c.3600G>A (p.Arg1200=)
|
rs1410559096
|
0.00003
|
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys)
|
rs137854391
|
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.429C>G (p.Phe143Leu)
|
rs137854406
|
0.00003
|
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe)
|
rs759004251
|
0.00003
|
NM_000548.5(TSC2):c.4367T>A (p.Leu1456His)
|
rs777669350
|
0.00003
|
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu)
|
rs45517341
|
0.00003
|
NM_000548.5(TSC2):c.4401C>T (p.Ala1467=)
|
rs370735624
|
0.00003
|
NM_000548.5(TSC2):c.4446C>T (p.Ser1482=)
|
rs780955293
|
0.00003
|
NM_000548.5(TSC2):c.450G>A (p.Gly150=)
|
rs372000734
|
0.00003
|
NM_000548.5(TSC2):c.4549C>A (p.Pro1517Thr)
|
rs1057522800
|
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.4901G>A (p.Arg1634His)
|
rs201694466
|
0.00003
|
NM_000548.5(TSC2):c.493C>T (p.Leu165=)
|
rs758521946
|
0.00003
|
NM_000548.5(TSC2):c.4960G>A (p.Gly1654Ser)
|
rs771911660
|
0.00003
|
NM_000548.5(TSC2):c.4989+14C>T
|
rs187363476
|
0.00003
|
NM_000548.5(TSC2):c.5079C>T (p.Gly1693=)
|
rs1173469448
|
0.00003
|
NM_000548.5(TSC2):c.5161-5C>A
|
rs775534948
|
0.00003
|
NM_000548.5(TSC2):c.5259+19C>T
|
rs753175884
|
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.5328C>T (p.Ala1776=)
|
rs757292336
|
0.00003
|
NM_000548.5(TSC2):c.5346C>G (p.Ala1782=)
|
rs557200243
|
0.00003
|
NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu)
|
rs200004126
|
0.00003
|
NM_000548.5(TSC2):c.627C>T (p.Thr209=)
|
rs776293094
|
0.00003
|
NM_000548.5(TSC2):c.673G>A (p.Val225Met)
|
rs142919353
|
0.00003
|
NM_000548.5(TSC2):c.775-5C>T
|
rs181827303
|
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.922C>T (p.Arg308Trp)
|
rs201144475
|
0.00003
|
NM_000548.5(TSC2):c.1015G>A (p.Val339Ile)
|
rs559727962
|
0.00002
|
NM_000548.5(TSC2):c.1071G>A (p.Ala357=)
|
rs776395163
|
0.00002
|
NM_000548.5(TSC2):c.1119+9G>A
|
rs748164142
|
0.00002
|
NM_000548.5(TSC2):c.1258-16G>T
|
rs979174870
|
0.00002
|
NM_000548.5(TSC2):c.1258-17G>A
|
rs752327718
|
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.1785G>A (p.Gln595=)
|
rs150352976
|
0.00002
|
NM_000548.5(TSC2):c.1806C>T (p.Tyr602=)
|
rs367553206
|
0.00002
|
NM_000548.5(TSC2):c.1809C>G (p.Thr603=)
|
rs1016247433
|
0.00002
|
NM_000548.5(TSC2):c.1840-6T>G
|
rs747952317
|
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.1916G>A (p.Arg639Gln)
|
rs753932484
|
0.00002
|
NM_000548.5(TSC2):c.1977C>T (p.Thr659=)
|
rs369065703
|
0.00002
|
NM_000548.5(TSC2):c.2098-18C>T
|
rs1246072517
|
0.00002
|
NM_000548.5(TSC2):c.2221-8G>C
|
rs768919244
|
0.00002
|
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln)
|
rs766442736
|
0.00002
|
NM_000548.5(TSC2):c.226-13C>T
|
rs886038353
|
0.00002
|
NM_000548.5(TSC2):c.2310G>C (p.Leu770=)
|
rs772380298
|
0.00002
|
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys)
|
rs767252128
|
0.00002
|
NM_000548.5(TSC2):c.2358C>T (p.Arg786=)
|
rs372834284
|
0.00002
|
NM_000548.5(TSC2):c.2412C>T (p.Cys804=)
|
rs763123951
|
0.00002
|
NM_000548.5(TSC2):c.2437G>A (p.Val813Met)
|
rs375030314
|
0.00002
|
NM_000548.5(TSC2):c.2534A>G (p.Glu845Gly)
|
rs764608837
|
0.00002
|
NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu)
|
rs138527121
|
0.00002
|
NM_000548.5(TSC2):c.2639+11G>A
|
rs1057520919
|
0.00002
|
NM_000548.5(TSC2):c.2694C>T (p.Ile898=)
|
rs200360213
|
0.00002
|
NM_000548.5(TSC2):c.2916C>A (p.Ala972=)
|
rs751474097
|
0.00002
|
NM_000548.5(TSC2):c.2948C>G (p.Ser983Cys)
|
rs759786102
|
0.00002
|
NM_000548.5(TSC2):c.2962C>T (p.Arg988Cys)
|
rs763047420
|
0.00002
|
NM_000548.5(TSC2):c.2967-15G>A
|
rs375423568
|
0.00002
|
NM_000548.5(TSC2):c.2967-16C>T
|
rs774389795
|
0.00002
|
NM_000548.5(TSC2):c.298G>A (p.Ala100Thr)
|
rs369314296
|
0.00002
|
NM_000548.5(TSC2):c.3028C>G (p.Gln1010Glu)
|
rs45514100
|
0.00002
|
NM_000548.5(TSC2):c.3039T>C (p.Asp1013=)
|
rs149098424
|
0.00002
|
NM_000548.5(TSC2):c.3131+9G>A
|
rs1352481690
|
0.00002
|
NM_000548.5(TSC2):c.3204T>C (p.Thr1068=)
|
rs1060504101
|
0.00002
|
NM_000548.5(TSC2):c.3226G>A (p.Gly1076Arg)
|
rs747910305
|
0.00002
|
NM_000548.5(TSC2):c.3232C>T (p.Arg1078Trp)
|
rs78956195
|
0.00002
|
NM_000548.5(TSC2):c.3249G>A (p.Leu1083=)
|
rs762243606
|
0.00002
|
NM_000548.5(TSC2):c.3284+11C>A
|
rs769334480
|
0.00002
|
NM_000548.5(TSC2):c.3284+14C>G
|
rs762298669
|
0.00002
|
NM_000548.5(TSC2):c.3380G>A (p.Arg1127Gln)
|
rs746197874
|
0.00002
|
NM_000548.5(TSC2):c.3396G>A (p.Ser1132=)
|
rs373004429
|
0.00002
|
NM_000548.5(TSC2):c.3526C>T (p.Pro1176Ser)
|
rs1326077397
|
0.00002
|
NM_000548.5(TSC2):c.3534G>A (p.Gln1178=)
|
rs201305783
|
0.00002
|
NM_000548.5(TSC2):c.354C>G (p.Val118=)
|
rs762228318
|
0.00002
|
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val)
|
rs1060500939
|
0.00002
|
NM_000548.5(TSC2):c.3702C>T (p.Ala1234=)
|
rs760755935
|
0.00002
|
NM_000548.5(TSC2):c.3814+14C>T
|
rs374139943
|
0.00002
|
NM_000548.5(TSC2):c.3815-3C>T
|
rs770054036
|
0.00002
|
NM_000548.5(TSC2):c.3883+17G>A
|
rs1207142968
|
0.00002
|
NM_000548.5(TSC2):c.3885C>T (p.Asp1295=)
|
rs766771526
|
0.00002
|
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys)
|
rs397515035
|
0.00002
|
NM_000548.5(TSC2):c.4155C>G (p.Ser1385=)
|
rs1057521540
|
0.00002
|
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=)
|
rs911307922
|
0.00002
|
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=)
|
rs886051794
|
0.00002
|
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg)
|
rs45517338
|
0.00002
|
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu)
|
rs45517339
|
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.4494-11dup
|
rs770333078
|
0.00002
|
NM_000548.5(TSC2):c.4527C>G (p.Phe1509Leu)
|
rs775919951
|
0.00002
|
NM_000548.5(TSC2):c.4539G>A (p.Glu1513=)
|
rs1322800885
|
0.00002
|
NM_000548.5(TSC2):c.4570-15C>A
|
rs766813076
|
0.00002
|
NM_000548.5(TSC2):c.4585C>T (p.Arg1529Trp)
|
rs1051502900
|
0.00002
|
NM_000548.5(TSC2):c.4599C>T (p.Leu1533=)
|
rs768431568
|
0.00002
|
NM_000548.5(TSC2):c.4662+16C>T
|
rs45517356
|
0.00002
|
NM_000548.5(TSC2):c.4728G>A (p.Thr1576=)
|
rs752642825
|
0.00002
|
NM_000548.5(TSC2):c.482-14C>T
|
rs757054946
|
0.00002
|
NM_000548.5(TSC2):c.4823A>G (p.Tyr1608Cys)
|
rs759795928
|
0.00002
|
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn)
|
rs886051795
|
0.00002
|
NM_000548.5(TSC2):c.4849+18C>T
|
rs45517374
|
0.00002
|
NM_000548.5(TSC2):c.4860C>T (p.His1620=)
|
rs1189943599
|
0.00002
|
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn)
|
rs137853999
|
0.00002
|
NM_000548.5(TSC2):c.4956C>T (p.Asp1652=)
|
rs1376515823
|
0.00002
|
NM_000548.5(TSC2):c.4990-11T>C
|
rs1006709973
|
0.00002
|
NM_000548.5(TSC2):c.4990-15C>T
|
rs763702674
|
0.00002
|
NM_000548.5(TSC2):c.5004T>C (p.Phe1668=)
|
rs745787082
|
0.00002
|
NM_000548.5(TSC2):c.5064G>A (p.Arg1688=)
|
rs374476631
|
0.00002
|
NM_000548.5(TSC2):c.5088C>T (p.Asp1696=)
|
rs766472320
|
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.5181T>C (p.His1727=)
|
rs767191593
|
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.5259+10A>C
|
rs200725584
|
0.00002
|
NM_000548.5(TSC2):c.5260-9T>C
|
rs775095745
|
0.00002
|
NM_000548.5(TSC2):c.5396C>T (p.Ser1799Leu)
|
rs778484981
|
0.00002
|
NM_000548.5(TSC2):c.5415G>A (p.Glu1805=)
|
rs982803529
|
0.00002
|
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser)
|
rs45505405
|
0.00002
|
NM_000548.5(TSC2):c.648+14C>T
|
rs941595244
|
0.00002
|
NM_000548.5(TSC2):c.649-8T>C
|
rs769803918
|
0.00002
|
NM_000548.5(TSC2):c.651C>G (p.Val217=)
|
rs780004703
|
0.00002
|
NM_000548.5(TSC2):c.735C>T (p.Arg245=)
|
rs763419528
|
0.00002
|
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)
|
rs137854123
|
0.00002
|
NM_000548.5(TSC2):c.945G>A (p.Ser315=)
|
rs763948768
|
0.00002
|
NM_000548.5(TSC2):c.976-12C>T
|
rs760262673
|
0.00002
|
NM_000548.5(TSC2):c.976-16C>T
|
rs773016098
|
0.00002
|
NM_000548.5(TSC2):c.993C>T (p.Asn331=)
|
rs45517153
|
0.00002
|
NM_000548.5(TSC2):c.1007A>G (p.Tyr336Cys)
|
rs780378198
|
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.1068G>A (p.Val356=)
|
rs760584946
|
0.00001
|
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala)
|
rs757113497
|
0.00001
|
NM_000548.5(TSC2):c.1104C>T (p.Leu368=)
|
rs1352216421
|
0.00001
|
NM_000548.5(TSC2):c.1119+8G>T
|
rs1377444061
|
0.00001
|
NM_000548.5(TSC2):c.1120-5dup
|
rs1555500983
|
0.00001
|
NM_000548.5(TSC2):c.1120-6C>T
|
rs1327886668
|
0.00001
|
NM_000548.5(TSC2):c.1122C>G (p.Thr374=)
|
rs1555500988
|
0.00001
|
NM_000548.5(TSC2):c.1146C>A (p.Thr382=)
|
rs887128869
|
0.00001
|
NM_000548.5(TSC2):c.1164G>A (p.Leu388=)
|
rs1416852086
|
0.00001
|
NM_000548.5(TSC2):c.1167C>T (p.Thr389=)
|
rs745774782
|
0.00001
|
NM_000548.5(TSC2):c.1213G>C (p.Glu405Gln)
|
rs765622787
|
0.00001
|
NM_000548.5(TSC2):c.1221C>T (p.Tyr407=)
|
rs397514897
|
0.00001
|
NM_000548.5(TSC2):c.123C>T (p.Thr41=)
|
rs1060504100
|
0.00001
|
NM_000548.5(TSC2):c.1257+9C>T
|
rs1166139497
|
0.00001
|
NM_000548.5(TSC2):c.1258-18C>T
|
rs778741704
|
0.00001
|
NM_000548.5(TSC2):c.1258-19C>T
|
rs1235654050
|
0.00001
|
NM_000548.5(TSC2):c.1258-9T>G
|
rs377188047
|
0.00001
|
NM_000548.5(TSC2):c.1269C>T (p.Leu423=)
|
rs1323588796
|
0.00001
|
NM_000548.5(TSC2):c.1284C>T (p.Ser428=)
|
rs1325874616
|
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.1361+7G>T
|
rs1248857340
|
0.00001
|
NM_000548.5(TSC2):c.1362-15G>C
|
rs1360683344
|
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.1371C>G (p.Ser457=)
|
rs1060504093
|
0.00001
|
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln)
|
rs878854077
|
0.00001
|
NM_000548.5(TSC2):c.138+15T>A
|
rs1168013718
|
0.00001
|
NM_000548.5(TSC2):c.138+6T>C
|
rs1252109762
|
0.00001
|
NM_000548.5(TSC2):c.1380C>T (p.Ala460=)
|
rs1060504113
|
0.00001
|
NM_000548.5(TSC2):c.139-8C>T
|
rs1382083945
|
0.00001
|
NM_000548.5(TSC2):c.1401C>T (p.Asp467=)
|
rs1433989426
|
0.00001
|
NM_000548.5(TSC2):c.1404G>A (p.Val468=)
|
rs778247396
|
0.00001
|
NM_000548.5(TSC2):c.1407G>A (p.Leu469=)
|
rs1458720483
|
0.00001
|
NM_000548.5(TSC2):c.1440T>C (p.Tyr480=)
|
rs45514794
|
0.00001
|
NM_000548.5(TSC2):c.1443+10C>G
|
rs1222870951
|
0.00001
|
NM_000548.5(TSC2):c.1443+13G>A
|
rs1215320121
|
0.00001
|
NM_000548.5(TSC2):c.1443+16G>T
|
rs371644025
|
0.00001
|
NM_000548.5(TSC2):c.1443+19G>A
|
rs1219381067
|
0.00001
|
NM_000548.5(TSC2):c.1443+7G>A
|
rs950216832
|
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.1455T>C (p.Ile485=)
|
rs1239743041
|
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.1554C>A (p.Gly518=)
|
rs1274545629
|
0.00001
|
NM_000548.5(TSC2):c.1566C>T (p.His522=)
|
rs876659982
|
0.00001
|
NM_000548.5(TSC2):c.1575C>T (p.Asn525=)
|
rs1060504098
|
0.00001
|
NM_000548.5(TSC2):c.1584G>A (p.Leu528=)
|
rs1478821497
|
0.00001
|
NM_000548.5(TSC2):c.1596G>A (p.Glu532=)
|
rs756466484
|
0.00001
|
NM_000548.5(TSC2):c.1599+19G>A
|
rs777632769
|
0.00001
|
NM_000548.5(TSC2):c.1599+8C>A
|
rs780311327
|
0.00001
|
NM_000548.5(TSC2):c.1600-4A>C
|
rs1164295969
|
0.00001
|
NM_000548.5(TSC2):c.1600-5C>G
|
rs1426258365
|
0.00001
|
NM_000548.5(TSC2):c.1635G>C (p.Leu545=)
|
rs755923499
|
0.00001
|
NM_000548.5(TSC2):c.1653C>T (p.Ala551=)
|
rs202171361
|
0.00001
|
NM_000548.5(TSC2):c.1659C>T (p.Tyr553=)
|
rs1358358656
|
0.00001
|
NM_000548.5(TSC2):c.1678G>A (p.Val560Met)
|
rs141631268
|
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.1716+10C>G
|
rs45464995
|
0.00001
|
NM_000548.5(TSC2):c.1716+20C>T
|
rs781703479
|
0.00001
|
NM_000548.5(TSC2):c.1716+7G>A
|
rs1204839285
|
0.00001
|
NM_000548.5(TSC2):c.1717-10C>T
|
rs377168627
|
0.00001
|
NM_000548.5(TSC2):c.1717-14T>C
|
rs780658386
|
0.00001
|
NM_000548.5(TSC2):c.1717-4del
|
rs1362347834
|
0.00001
|
NM_000548.5(TSC2):c.1717-6C>T
|
rs1596335934
|
0.00001
|
NM_000548.5(TSC2):c.1754G>A (p.Arg585His)
|
rs397515063
|
0.00001
|
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=)
|
rs45509094
|
0.00001
|
NM_000548.5(TSC2):c.1800C>T (p.His600=)
|
rs762782913
|
0.00001
|
NM_000548.5(TSC2):c.1803C>T (p.Ser601=)
|
rs1044401463
|
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+10C>T
|
rs868388786
|
0.00001
|
NM_000548.5(TSC2):c.1839+14G>A
|
rs1258455812
|
0.00001
|
NM_000548.5(TSC2):c.1839+9G>A
|
rs751834233
|
0.00001
|
NM_000548.5(TSC2):c.1840-13C>T
|
rs1186556063
|
0.00001
|
NM_000548.5(TSC2):c.1840-14C>T
|
rs539450042
|
0.00001
|
NM_000548.5(TSC2):c.1840-16A>G
|
rs200933920
|
0.00001
|
NM_000548.5(TSC2):c.1840-17C>T
|
rs1246308547
|
0.00001
|
NM_000548.5(TSC2):c.1840-20C>T
|
rs370980659
|
0.00001
|
NM_000548.5(TSC2):c.1840-8C>T
|
rs778905320
|
0.00001
|
NM_000548.5(TSC2):c.1851C>T (p.Phe617=)
|
rs1446662814
|
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.1944C>T (p.Tyr648=)
|
rs878925198
|
0.00001
|
NM_000548.5(TSC2):c.1946+18C>T
|
rs1351856624
|
0.00001
|
NM_000548.5(TSC2):c.1946+19A>G
|
rs1442266522
|
0.00001
|
NM_000548.5(TSC2):c.1946+5G>A
|
rs766646261
|
0.00001
|
NM_000548.5(TSC2):c.1947-10G>A
|
rs778293037
|
0.00001
|
NM_000548.5(TSC2):c.1947-19G>C
|
rs748855035
|
0.00001
|
NM_000548.5(TSC2):c.1947-6C>T
|
rs2088443606
|
0.00001
|
NM_000548.5(TSC2):c.1969A>C (p.Lys657Gln)
|
rs45488199
|
0.00001
|
NM_000548.5(TSC2):c.1983C>T (p.Gly661=)
|
rs1270679683
|
0.00001
|
NM_000548.5(TSC2):c.1993C>G (p.Pro665Ala)
|
rs1184908674
|
0.00001
|
NM_000548.5(TSC2):c.2004G>T (p.Gly668=)
|
rs746307631
|
0.00001
|
NM_000548.5(TSC2):c.2038C>T (p.Arg680Trp)
|
rs876658578
|
0.00001
|
NM_000548.5(TSC2):c.2043G>A (p.Leu681=)
|
rs1296448095
|
0.00001
|
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=)
|
rs1186913814
|
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.2097+5G>C
|
rs977777731
|
0.00001
|
NM_000548.5(TSC2):c.2097+7G>A
|
rs1280828990
|
0.00001
|
NM_000548.5(TSC2):c.2097+7G>C
|
rs1280828990
|
0.00001
|
NM_000548.5(TSC2):c.2098-12C>G
|
rs1460403520
|
0.00001
|
NM_000548.5(TSC2):c.2098-12C>T
|
rs1460403520
|
0.00001
|
NM_000548.5(TSC2):c.2098-15C>A
|
rs775111741
|
0.00001
|
NM_000548.5(TSC2):c.2098-16C>A
|
rs764694797
|
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.2106C>T (p.Asp702=)
|
rs1396298404
|
0.00001
|
NM_000548.5(TSC2):c.2122C>T (p.Leu708=)
|
rs778040604
|
0.00001
|
NM_000548.5(TSC2):c.2128C>T (p.Leu710=)
|
rs1225700612
|
0.00001
|
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn)
|
rs766200310
|
0.00001
|
NM_000548.5(TSC2):c.2157T>C (p.Tyr719=)
|
rs902456479
|
0.00001
|
NM_000548.5(TSC2):c.2166C>T (p.Leu722=)
|
rs1009050362
|
0.00001
|
NM_000548.5(TSC2):c.2220+15C>T
|
rs1455057080
|
0.00001
|
NM_000548.5(TSC2):c.2220+16T>C
|
rs749079366
|
0.00001
|
NM_000548.5(TSC2):c.2220+20G>T
|
rs747764105
|
0.00001
|
NM_000548.5(TSC2):c.2220+5C>T
|
rs1164941572
|
0.00001
|
NM_000548.5(TSC2):c.2221-19G>A
|
rs775879508
|
0.00001
|
NM_000548.5(TSC2):c.2238A>G (p.Thr746=)
|
rs1060504115
|
0.00001
|
NM_000548.5(TSC2):c.2245C>T (p.Arg749Trp)
|
rs377397369
|
0.00001
|
NM_000548.5(TSC2):c.225+12C>A
|
rs886038352
|
0.00001
|
NM_000548.5(TSC2):c.2250C>T (p.Leu750=)
|
rs1387127083
|
0.00001
|
NM_000548.5(TSC2):c.226-15C>T
|
rs759316470
|
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.2308C>T (p.Leu770=)
|
rs762215859
|
0.00001
|
NM_000548.5(TSC2):c.2312C>T (p.Thr771Ile)
|
rs886051790
|
0.00001
|
NM_000548.5(TSC2):c.2322C>T (p.Ile774=)
|
rs760885994
|
0.00001
|
NM_000548.5(TSC2):c.2327A>G (p.Tyr776Cys)
|
rs766382381
|
0.00001
|
NM_000548.5(TSC2):c.2330A>G (p.His777Arg)
|
rs759528809
|
0.00001
|
NM_000548.5(TSC2):c.2337C>T (p.Tyr779=)
|
rs1060504118
|
0.00001
|
NM_000548.5(TSC2):c.2349C>T (p.Thr783=)
|
rs1003048370
|
0.00001
|
NM_000548.5(TSC2):c.234G>A (p.Val78=)
|
rs1347487177
|
0.00001
|
NM_000548.5(TSC2):c.2355+5G>A
|
rs756995937
|
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.2356-4G>A
|
rs201156748
|
0.00001
|
NM_000548.5(TSC2):c.2366T>C (p.Val789Ala)
|
rs748669016
|
0.00001
|
NM_000548.5(TSC2):c.2395C>T (p.Arg799Cys)
|
rs1366556255
|
0.00001
|
NM_000548.5(TSC2):c.2415C>T (p.Val805=)
|
rs45517235
|
0.00001
|
NM_000548.5(TSC2):c.2454C>T (p.Ile818=)
|
rs786201599
|
0.00001
|
NM_000548.5(TSC2):c.2466G>A (p.Ala822=)
|
rs141728350
|
0.00001
|
NM_000548.5(TSC2):c.2467C>T (p.Leu823=)
|
rs554509064
|
0.00001
|
NM_000548.5(TSC2):c.2484G>A (p.Val828=)
|
rs780395534
|
0.00001
|
NM_000548.5(TSC2):c.2496C>T (p.His832=)
|
rs1225070343
|
0.00001
|
NM_000548.5(TSC2):c.2526A>G (p.Pro842=)
|
rs753466189
|
0.00001
|
NM_000548.5(TSC2):c.2529G>T (p.Leu843=)
|
rs759108698
|
0.00001
|
NM_000548.5(TSC2):c.252G>A (p.Ala84=)
|
rs1316543957
|
0.00001
|
NM_000548.5(TSC2):c.2535G>A (p.Glu845=)
|
rs2088947794
|
0.00001
|
NM_000548.5(TSC2):c.2546-20C>G
|
rs1293594428
|
0.00001
|
NM_000548.5(TSC2):c.2553C>T (p.Ala851=)
|
rs745687916
|
0.00001
|
NM_000548.5(TSC2):c.2554A>C (p.Arg852=)
|
rs769586763
|
0.00001
|
NM_000548.5(TSC2):c.2561C>T (p.Pro854Leu)
|
rs1180511535
|
0.00001
|
NM_000548.5(TSC2):c.2568C>G (p.Leu856=)
|
rs886038354
|
0.00001
|
NM_000548.5(TSC2):c.2571C>T (p.Tyr857=)
|
rs774063865
|
0.00001
|
NM_000548.5(TSC2):c.2595T>C (p.Tyr865=)
|
rs1277430773
|
0.00001
|
NM_000548.5(TSC2):c.2598C>T (p.Ala866=)
|
rs1395372159
|
0.00001
|
NM_000548.5(TSC2):c.2601T>C (p.Ser867=)
|
rs878854086
|
0.00001
|
NM_000548.5(TSC2):c.2607C>T (p.Phe869=)
|
rs750336814
|
0.00001
|
NM_000548.5(TSC2):c.2610C>T (p.Ala870=)
|
rs755870234
|
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+14C>T
|
rs1057520927
|
0.00001
|
NM_000548.5(TSC2):c.2639+15C>T
|
rs397515299
|
0.00001
|
NM_000548.5(TSC2):c.2640-10C>G
|
rs964883731
|
0.00001
|
NM_000548.5(TSC2):c.2655C>T (p.Ile885=)
|
rs1060504116
|
0.00001
|
NM_000548.5(TSC2):c.2662C>T (p.Leu888=)
|
rs765057258
|
0.00001
|
NM_000548.5(TSC2):c.2674G>A (p.Val892Ile)
|
rs376801256
|
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.2743-16G>A
|
rs896016432
|
0.00001
|
NM_000548.5(TSC2):c.2743-17T>G
|
rs1057375876
|
0.00001
|
NM_000548.5(TSC2):c.2743-4C>T
|
rs1258692002
|
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.2798T>G (p.Phe933Cys)
|
rs45517269
|
0.00001
|
NM_000548.5(TSC2):c.2814T>C (p.Thr938=)
|
rs950740348
|
0.00001
|
NM_000548.5(TSC2):c.281C>T (p.Pro94Leu)
|
rs200045926
|
0.00001
|
NM_000548.5(TSC2):c.2821A>G (p.Asn941Asp)
|
rs878854087
|
0.00001
|
NM_000548.5(TSC2):c.2837+10G>A
|
rs1232454175
|
0.00001
|
NM_000548.5(TSC2):c.2837+11C>T
|
rs754592874
|
0.00001
|
NM_000548.5(TSC2):c.2837+14G>C
|
rs975343086
|
0.00001
|
NM_000548.5(TSC2):c.2837+16G>A
|
rs397515095
|
0.00001
|
NM_000548.5(TSC2):c.2838-16C>T
|
rs778996893
|
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.2882C>T (p.Pro961Leu)
|
rs370415754
|
0.00001
|
NM_000548.5(TSC2):c.2886C>T (p.Pro962=)
|
rs140202176
|
0.00001
|
NM_000548.5(TSC2):c.2910T>C (p.Ser970=)
|
rs777705428
|
0.00001
|
NM_000548.5(TSC2):c.2932C>T (p.Arg978Cys)
|
rs768241596
|
0.00001
|
NM_000548.5(TSC2):c.2958G>T (p.Val986=)
|
rs1114167464
|
0.00001
|
NM_000548.5(TSC2):c.2966+15G>T
|
rs779884344
|
0.00001
|
NM_000548.5(TSC2):c.2966+5C>T
|
rs767328300
|
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.2998T>C (p.Leu1000=)
|
rs756679047
|
0.00001
|
NM_000548.5(TSC2):c.3021C>T (p.Ser1007=)
|
rs201516931
|
0.00001
|
NM_000548.5(TSC2):c.3027C>A (p.Ala1009=)
|
rs1320888448
|
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.3088A>G (p.Met1030Val)
|
rs754276150
|
0.00001
|
NM_000548.5(TSC2):c.3131+8C>T
|
rs763702215
|
0.00001
|
NM_000548.5(TSC2):c.3132-11C>T
|
rs2089819486
|
0.00001
|
NM_000548.5(TSC2):c.3132-13C>T
|
rs371948435
|
0.00001
|
NM_000548.5(TSC2):c.3132-17C>T
|
rs781476832
|
0.00001
|
NM_000548.5(TSC2):c.3132-7C>T
|
rs2089820591
|
0.00001
|
NM_000548.5(TSC2):c.3132-9G>A
|
rs1367489214
|
0.00001
|
NM_000548.5(TSC2):c.3150C>T (p.Phe1050=)
|
rs1060504105
|
0.00001
|
NM_000548.5(TSC2):c.3171C>G (p.Thr1057=)
|
rs1487006409
|
0.00001
|
NM_000548.5(TSC2):c.3176C>T (p.Thr1059Ile)
|
rs753205147
|
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.324C>T (p.Ile108=)
|
rs973500815
|
0.00001
|
NM_000548.5(TSC2):c.327G>A (p.Val109=)
|
rs754348511
|
0.00001
|
NM_000548.5(TSC2):c.3282G>A (p.Ser1094=)
|
rs1060504095
|
0.00001
|
NM_000548.5(TSC2):c.3284+10C>T
|
rs776269274
|
0.00001
|
NM_000548.5(TSC2):c.3284+18T>G
|
rs1280873987
|
0.00001
|
NM_000548.5(TSC2):c.3284+19C>T
|
rs1391837432
|
0.00001
|
NM_000548.5(TSC2):c.3284+20C>T
|
rs1057521477
|
0.00001
|
NM_000548.5(TSC2):c.3284+6T>G
|
rs375837026
|
0.00001
|
NM_000548.5(TSC2):c.3285-4T>G
|
rs756951926
|
0.00001
|
NM_000548.5(TSC2):c.3285-5C>T
|
rs1444989940
|
0.00001
|
NM_000548.5(TSC2):c.3285C>T (p.Ser1095=)
|
rs745446277
|
0.00001
|
NM_000548.5(TSC2):c.3297G>C (p.Gly1099=)
|
rs138459325
|
0.00001
|
NM_000548.5(TSC2):c.3303T>C (p.His1101=)
|
rs1233334406
|
0.00001
|
NM_000548.5(TSC2):c.3306G>C (p.Val1102=)
|
rs762917290
|
0.00001
|
NM_000548.5(TSC2):c.3318G>A (p.Lys1106=)
|
rs1060504119
|
0.00001
|
NM_000548.5(TSC2):c.336+15G>A
|
rs777904257
|
0.00001
|
NM_000548.5(TSC2):c.336+17C>T
|
rs754295761
|
0.00001
|
NM_000548.5(TSC2):c.336+8C>T
|
rs779174834
|
0.00001
|
NM_000548.5(TSC2):c.3369G>A (p.Gly1123=)
|
rs1555510958
|
0.00001
|
NM_000548.5(TSC2):c.337-15G>C
|
rs772983704
|
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.3395C>T (p.Ser1132Leu)
|
rs137854074
|
0.00001
|
NM_000548.5(TSC2):c.3397+15C>T
|
rs202246408
|
0.00001
|
NM_000548.5(TSC2):c.3397+20A>G
|
rs376079104
|
0.00001
|
NM_000548.5(TSC2):c.3397+3G>A
|
rs1481437660
|
0.00001
|
NM_000548.5(TSC2):c.3397+6C>A
|
rs955636757
|
0.00001
|
NM_000548.5(TSC2):c.3397+7C>T
|
rs767531844
|
0.00001
|
NM_000548.5(TSC2):c.3398-18C>T
|
rs772159760
|
0.00001
|
NM_000548.5(TSC2):c.339C>A (p.Gly113=)
|
rs368451664
|
0.00001
|
NM_000548.5(TSC2):c.346T>C (p.Leu116=)
|
rs751923657
|
0.00001
|
NM_000548.5(TSC2):c.3480T>C (p.Thr1160=)
|
rs766888262
|
0.00001
|
NM_000548.5(TSC2):c.3480T>G (p.Thr1160=)
|
rs766888262
|
0.00001
|
NM_000548.5(TSC2):c.3486A>G (p.Pro1162=)
|
rs1277144134
|
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.3543G>A (p.Thr1181=)
|
rs139313964
|
0.00001
|
NM_000548.5(TSC2):c.3570G>A (p.Leu1190=)
|
rs1366398727
|
0.00001
|
NM_000548.5(TSC2):c.3573C>T (p.Thr1191=)
|
rs768318835
|
0.00001
|
NM_000548.5(TSC2):c.3594G>A (p.Leu1198=)
|
rs202114637
|
0.00001
|
NM_000548.5(TSC2):c.3610+11G>A
|
rs751767873
|
0.00001
|
NM_000548.5(TSC2):c.3615C>T (p.Asn1205=)
|
rs924403519
|
0.00001
|
NM_000548.5(TSC2):c.3625C>T (p.Leu1209=)
|
rs1466425189
|
0.00001
|
NM_000548.5(TSC2):c.362C>G (p.Ala121Gly)
|
rs767755750
|
0.00001
|
NM_000548.5(TSC2):c.3634C>T (p.Leu1212=)
|
rs1358537146
|
0.00001
|
NM_000548.5(TSC2):c.3639G>A (p.Glu1213=)
|
rs747862818
|
0.00001
|
NM_000548.5(TSC2):c.3675C>T (p.Asn1225=)
|
rs1483188996
|
0.00001
|
NM_000548.5(TSC2):c.3682C>T (p.Leu1228=)
|
rs938124834
|
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.369C>T (p.Phe123=)
|
rs1567399252
|
0.00001
|
NM_000548.5(TSC2):c.3705C>T (p.Leu1235=)
|
rs1386839308
|
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.3732C>T (p.His1244=)
|
rs1264194267
|
0.00001
|
NM_000548.5(TSC2):c.3750C>T (p.Tyr1250=)
|
rs45517308
|
0.00001
|
NM_000548.5(TSC2):c.3757C>T (p.Leu1253=)
|
rs1596400529
|
0.00001
|
NM_000548.5(TSC2):c.3759G>A (p.Leu1253=)
|
rs878854095
|
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.3788C>T (p.Pro1263Leu)
|
rs1057523452
|
0.00001
|
NM_000548.5(TSC2):c.378C>G (p.Val126=)
|
rs1222534983
|
0.00001
|
NM_000548.5(TSC2):c.3814+10A>G
|
rs200309006
|
0.00001
|
NM_000548.5(TSC2):c.3814+15G>A
|
rs201225719
|
0.00001
|
NM_000548.5(TSC2):c.3814+7G>A
|
rs372189946
|
0.00001
|
NM_000548.5(TSC2):c.3814+9C>A
|
rs371944932
|
0.00001
|
NM_000548.5(TSC2):c.3814+9C>T
|
rs371944932
|
0.00001
|
NM_000548.5(TSC2):c.3815-18C>A
|
rs947736117
|
0.00001
|
NM_000548.5(TSC2):c.3815-1G>A
|
rs2090256621
|
0.00001
|
NM_000548.5(TSC2):c.3815-4G>T
|
rs1410163756
|
0.00001
|
NM_000548.5(TSC2):c.3834G>A (p.Leu1278=)
|
rs766029525
|
0.00001
|
NM_000548.5(TSC2):c.3843C>T (p.Ser1281=)
|
rs1223688571
|
0.00001
|
NM_000548.5(TSC2):c.3850C>T (p.Gln1284Ter)
|
rs753308966
|
0.00001
|
NM_000548.5(TSC2):c.3883+15A>C
|
rs112925751
|
0.00001
|
NM_000548.5(TSC2):c.3884-18C>G
|
rs879594483
|
0.00001
|
NM_000548.5(TSC2):c.3884-5C>T
|
rs980261526
|
0.00001
|
NM_000548.5(TSC2):c.3884-8C>G
|
rs397515219
|
0.00001
|
NM_000548.5(TSC2):c.3933G>T (p.Leu1311=)
|
rs768160843
|
0.00001
|
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn)
|
rs375883030
|
0.00001
|
NM_000548.5(TSC2):c.3999C>T (p.Tyr1333=)
|
rs775604492
|
0.00001
|
NM_000548.5(TSC2):c.4001G>A (p.Ser1334Asn)
|
rs1060500964
|
0.00001
|
NM_000548.5(TSC2):c.4005+11C>T
|
rs768957548
|
0.00001
|
NM_000548.5(TSC2):c.4005+14A>G
|
rs774371313
|
0.00001
|
NM_000548.5(TSC2):c.4005+17G>A
|
rs1346482272
|
0.00001
|
NM_000548.5(TSC2):c.4005+18C>T
|
rs1339579825
|
0.00001
|
NM_000548.5(TSC2):c.4006-14A>G
|
rs1350511311
|
0.00001
|
NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe)
|
rs200411484
|
0.00001
|
NM_000548.5(TSC2):c.4019C>T (p.Ser1340Phe)
|
rs753656246
|
0.00001
|
NM_000548.5(TSC2):c.4067G>A (p.Gly1356Asp)
|
rs747104864
|
0.00001
|
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala)
|
rs878854104
|
0.00001
|
NM_000548.5(TSC2):c.4074C>T (p.Pro1358=)
|
rs144098854
|
0.00001
|
NM_000548.5(TSC2):c.4080G>A (p.Glu1360=)
|
rs786203798
|
0.00001
|
NM_000548.5(TSC2):c.408T>G (p.Leu136=)
|
rs1037058497
|
0.00001
|
NM_000548.5(TSC2):c.4146G>A (p.Leu1382=)
|
rs1162436739
|
0.00001
|
NM_000548.5(TSC2):c.4170G>A (p.Glu1390=)
|
rs1244952951
|
0.00001
|
NM_000548.5(TSC2):c.4176G>A (p.Gln1392=)
|
rs749930791
|
0.00001
|
NM_000548.5(TSC2):c.4182G>A (p.Leu1394=)
|
rs1191824850
|
0.00001
|
NM_000548.5(TSC2):c.4191C>T (p.Ile1397=)
|
rs1170748581
|
0.00001
|
NM_000548.5(TSC2):c.4230G>C (p.Leu1410=)
|
rs1193907816
|
0.00001
|
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=)
|
rs1285012780
|
0.00001
|
NM_000548.5(TSC2):c.4275G>A (p.Gly1425=)
|
rs1057522238
|
0.00001
|
NM_000548.5(TSC2):c.429C>T (p.Phe143=)
|
rs137854406
|
0.00001
|
NM_000548.5(TSC2):c.4323C>T (p.Pro1441=)
|
rs536527623
|
0.00001
|
NM_000548.5(TSC2):c.4332C>G (p.Pro1444=)
|
rs373973956
|
0.00001
|
NM_000548.5(TSC2):c.433G>A (p.Ala145Thr)
|
rs774892845
|
0.00001
|
NM_000548.5(TSC2):c.4348C>G (p.Pro1450Ala)
|
rs376381196
|
0.00001
|
NM_000548.5(TSC2):c.4359C>T (p.Pro1453=)
|
rs1212442267
|
0.00001
|
NM_000548.5(TSC2):c.4372C>A (p.Pro1458Thr)
|
rs1189784704
|
0.00001
|
NM_000548.5(TSC2):c.4383C>T (p.Tyr1461=)
|
rs397514977
|
0.00001
|
NM_000548.5(TSC2):c.4385C>G (p.Thr1462Ser)
|
rs373018205
|
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.4420A>G (p.Arg1474Gly)
|
rs766719443
|
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.4457C>T (p.Ala1486Val)
|
rs773527337
|
0.00001
|
NM_000548.5(TSC2):c.447T>C (p.Asn149=)
|
rs750717653
|
0.00001
|
NM_000548.5(TSC2):c.4493+13C>T
|
rs757183419
|
0.00001
|
NM_000548.5(TSC2):c.4494-10C>A
|
rs753499012
|
0.00001
|
NM_000548.5(TSC2):c.4494-12C>T
|
rs780056359
|
0.00001
|
NM_000548.5(TSC2):c.4494-15C>T
|
rs993595235
|
0.00001
|
NM_000548.5(TSC2):c.4494-19C>T
|
rs779772312
|
0.00001
|
NM_000548.5(TSC2):c.4503C>T (p.Phe1501=)
|
rs778332133
|
0.00001
|
NM_000548.5(TSC2):c.4504C>T (p.Leu1502=)
|
rs928525608
|
0.00001
|
NM_000548.5(TSC2):c.4537G>A (p.Glu1513Lys)
|
rs767449740
|
0.00001
|
NM_000548.5(TSC2):c.4545C>T (p.Asn1515=)
|
rs753641948
|
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.4557G>T (p.Leu1519=)
|
rs1260508226
|
0.00001
|
NM_000548.5(TSC2):c.4569+11C>T
|
rs749616902
|
0.00001
|
NM_000548.5(TSC2):c.4569+18C>T
|
rs1278654590
|
0.00001
|
NM_000548.5(TSC2):c.4569+20C>T
|
rs774494009
|
0.00001
|
NM_000548.5(TSC2):c.4569+6C>T
|
rs756614796
|
0.00001
|
NM_000548.5(TSC2):c.4569+7G>A
|
rs45497598
|
0.00001
|
NM_000548.5(TSC2):c.4569+7G>C
|
rs45497598
|
0.00001
|
NM_000548.5(TSC2):c.4570-1G>A
|
rs777985056
|
0.00001
|
NM_000548.5(TSC2):c.4570-20C>T
|
rs761324622
|
0.00001
|
NM_000548.5(TSC2):c.4577C>A (p.Ser1526Tyr)
|
rs796053498
|
0.00001
|
NM_000548.5(TSC2):c.4581T>C (p.Phe1527=)
|
rs745860116
|
0.00001
|
NM_000548.5(TSC2):c.4603G>A (p.Asp1535Asn)
|
rs45517353
|
0.00001
|
NM_000548.5(TSC2):c.4614A>G (p.Pro1538=)
|
rs1382897280
|
0.00001
|
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn)
|
rs796872464
|
0.00001
|
NM_000548.5(TSC2):c.4626C>A (p.Thr1542=)
|
rs1164781795
|
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.464A>G (p.Tyr155Cys)
|
rs755177576
|
0.00001
|
NM_000548.5(TSC2):c.4663-10C>G
|
rs766608928
|
0.00001
|
NM_000548.5(TSC2):c.4663-5C>T
|
rs1555515976
|
0.00001
|
NM_000548.5(TSC2):c.4663-6C>T
|
rs1596437883
|
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.471G>A (p.Glu157=)
|
rs1449885781
|
0.00001
|
NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp)
|
rs777592623
|
0.00001
|
NM_000548.5(TSC2):c.4740G>T (p.Arg1580=)
|
rs930171871
|
0.00001
|
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=)
|
rs751305758
|
0.00001
|
NM_000548.5(TSC2):c.4779C>T (p.Tyr1593=)
|
rs45517368
|
0.00001
|
NM_000548.5(TSC2):c.4803T>G (p.Gly1601=)
|
rs377474730
|
0.00001
|
NM_000548.5(TSC2):c.481+10A>G
|
rs1196443311
|
0.00001
|
NM_000548.5(TSC2):c.481+11C>A
|
rs975536162
|
0.00001
|
NM_000548.5(TSC2):c.481+14T>G
|
rs1160412532
|
0.00001
|
NM_000548.5(TSC2):c.482-17C>T
|
rs201589515
|
0.00001
|
NM_000548.5(TSC2):c.482-4C>T
|
rs780938957
|
0.00001
|
NM_000548.5(TSC2):c.4824C>T (p.Tyr1608=)
|
rs1422829075
|
0.00001
|
NM_000548.5(TSC2):c.4833C>T (p.His1611=)
|
rs765271161
|
0.00001
|
NM_000548.5(TSC2):c.4839C>T (p.Asp1613=)
|
rs876660657
|
0.00001
|
NM_000548.5(TSC2):c.4850-10T>A
|
rs1238997365
|
0.00001
|
NM_000548.5(TSC2):c.4850-12G>A
|
rs371810493
|
0.00001
|
NM_000548.5(TSC2):c.4850-18G>A
|
rs902020009
|
0.00001
|
NM_000548.5(TSC2):c.4850-6C>T
|
rs1060504082
|
0.00001
|
NM_000548.5(TSC2):c.4850-7C>T
|
rs1188604363
|
0.00001
|
NM_000548.5(TSC2):c.4850-8A>G
|
rs372258482
|
0.00001
|
NM_000548.5(TSC2):c.4864G>A (p.Ala1622Thr)
|
rs769913589
|
0.00001
|
NM_000548.5(TSC2):c.4893C>T (p.Asp1631=)
|
rs772915632
|
0.00001
|
NM_000548.5(TSC2):c.4914G>A (p.Lys1638=)
|
rs137854094
|
0.00001
|
NM_000548.5(TSC2):c.492C>T (p.Val164=)
|
rs1424637610
|
0.00001
|
NM_000548.5(TSC2):c.4941C>T (p.Ser1647=)
|
rs780279747
|
0.00001
|
NM_000548.5(TSC2):c.4950C>T (p.Tyr1650=)
|
rs1283177454
|
0.00001
|
NM_000548.5(TSC2):c.4977T>G (p.Leu1659=)
|
rs2090868794
|
0.00001
|
NM_000548.5(TSC2):c.4982C>T (p.Thr1661Ile)
|
rs776541842
|
0.00001
|
NM_000548.5(TSC2):c.4989+10G>T
|
rs1357118862
|
0.00001
|
NM_000548.5(TSC2):c.4989+12G>A
|
rs1343916460
|
0.00001
|
NM_000548.5(TSC2):c.4989+19G>A
|
rs762466695
|
0.00001
|
NM_000548.5(TSC2):c.4989+7G>A
|
rs1460236999
|
0.00001
|
NM_000548.5(TSC2):c.4990-10G>C
|
rs751012275
|
0.00001
|
NM_000548.5(TSC2):c.4990-13C>T
|
rs1346991628
|
0.00001
|
NM_000548.5(TSC2):c.4990-20C>G
|
rs762508695
|
0.00001
|
NM_000548.5(TSC2):c.4990-4G>A
|
rs1368879013
|
0.00001
|
NM_000548.5(TSC2):c.4998C>A (p.Phe1666Leu)
|
rs757221445
|
0.00001
|
NM_000548.5(TSC2):c.5011G>A (p.Val1671Met)
|
rs775395648
|
0.00001
|
NM_000548.5(TSC2):c.5022C>T (p.Thr1674=)
|
rs777184691
|
0.00001
|
NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn)
|
rs1163037065
|
0.00001
|
NM_000548.5(TSC2):c.5030A>C (p.Asp1677Ala)
|
rs1332296997
|
0.00001
|
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=)
|
rs876658185
|
0.00001
|
NM_000548.5(TSC2):c.5039G>A (p.Cys1680Tyr)
|
rs150558493
|
0.00001
|
NM_000548.5(TSC2):c.5049G>T (p.Val1683=)
|
rs1256890176
|
0.00001
|
NM_000548.5(TSC2):c.5058G>A (p.Gln1686=)
|
rs200700923
|
0.00001
|
NM_000548.5(TSC2):c.5061C>T (p.Cys1687=)
|
rs779923426
|
0.00001
|
NM_000548.5(TSC2):c.5068+13G>A
|
rs1201077508
|
0.00001
|
NM_000548.5(TSC2):c.5068+18C>T
|
rs1036320970
|
0.00001
|
NM_000548.5(TSC2):c.5068+20T>C
|
rs1199000508
|
0.00001
|
NM_000548.5(TSC2):c.5068+7C>T
|
rs773821477
|
0.00001
|
NM_000548.5(TSC2):c.5069-14C>G
|
rs376712566
|
0.00001
|
NM_000548.5(TSC2):c.5069-5C>T
|
rs762149472
|
0.00001
|
NM_000548.5(TSC2):c.5076G>C (p.Glu1692Asp)
|
rs1358186613
|
0.00001
|
NM_000548.5(TSC2):c.5091C>T (p.Thr1697=)
|
rs111675922
|
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.5115C>T (p.Asp1705=)
|
rs1385591764
|
0.00001
|
NM_000548.5(TSC2):c.5137C>T (p.Arg1713Cys)
|
rs759420443
|
0.00001
|
NM_000548.5(TSC2):c.5151G>A (p.Leu1717=)
|
rs1159550965
|
0.00001
|
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr)
|
rs201206500
|
0.00001
|
NM_000548.5(TSC2):c.5160+14G>C
|
rs1225889890
|
0.00001
|
NM_000548.5(TSC2):c.5160+16T>C
|
rs745343792
|
0.00001
|
NM_000548.5(TSC2):c.5161-12C>G
|
rs1555440351
|
0.00001
|
NM_000548.5(TSC2):c.5161-18C>T
|
rs747362965
|
0.00001
|
NM_000548.5(TSC2):c.5161-19C>G
|
rs778290482
|
0.00001
|
NM_000548.5(TSC2):c.5161-6C>T
|
rs1475029652
|
0.00001
|
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val)
|
rs45517407
|
0.00001
|
NM_000548.5(TSC2):c.5165C>T (p.Ala1722Val)
|
rs1373235682
|
0.00001
|
NM_000548.5(TSC2):c.5184C>T (p.Ser1728=)
|
rs397514955
|
0.00001
|
NM_000548.5(TSC2):c.5190C>T (p.Ser1730=)
|
rs1305025066
|
0.00001
|
NM_000548.5(TSC2):c.5196C>T (p.Pro1732=)
|
rs910514279
|
0.00001
|
NM_000548.5(TSC2):c.5205C>T (p.Ile1735=)
|
rs1308899138
|
0.00001
|
NM_000548.5(TSC2):c.5209C>T (p.Pro1737Ser)
|
rs780112037
|
0.00001
|
NM_000548.5(TSC2):c.5211C>A (p.Pro1737=)
|
rs151298910
|
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.5233C>T (p.Arg1745Cys)
|
rs760413281
|
0.00001
|
NM_000548.5(TSC2):c.5238C>T (p.His1746=)
|
rs1060504084
|
0.00001
|
NM_000548.5(TSC2):c.5250C>G (p.Leu1750=)
|
rs370353005
|
0.00001
|
NM_000548.5(TSC2):c.5259+15G>A
|
rs373209496
|
0.00001
|
NM_000548.5(TSC2):c.5259+6G>A
|
rs1555440900
|
0.00001
|
NM_000548.5(TSC2):c.5260-13C>T
|
rs1413775764
|
0.00001
|
NM_000548.5(TSC2):c.5260-14G>A
|
rs745529697
|
0.00001
|
NM_000548.5(TSC2):c.5260-20C>T
|
rs2091180250
|
0.00001
|
NM_000548.5(TSC2):c.5283C>T (p.Ser1761=)
|
rs747002312
|
0.00001
|
NM_000548.5(TSC2):c.532C>T (p.Leu178=)
|
rs1465941679
|
0.00001
|
NM_000548.5(TSC2):c.5337G>A (p.Gln1779=)
|
rs768237144
|
0.00001
|
NM_000548.5(TSC2):c.5343A>G (p.Pro1781=)
|
rs747614356
|
0.00001
|
NM_000548.5(TSC2):c.5352C>G (p.Pro1784=)
|
rs1367848310
|
0.00001
|
NM_000548.5(TSC2):c.5370G>C (p.Val1790=)
|
rs762032752
|
0.00001
|
NM_000548.5(TSC2):c.5379G>A (p.Arg1793=)
|
rs750392366
|
0.00001
|
NM_000548.5(TSC2):c.5400G>C (p.Val1800=)
|
rs777327091
|
0.00001
|
NM_000548.5(TSC2):c.5406C>T (p.Asp1802=)
|
rs746376375
|
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.566G>A (p.Cys189Tyr)
|
rs764218079
|
0.00001
|
NM_000548.5(TSC2):c.573C>T (p.Leu191=)
|
rs397515059
|
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.599+10G>C
|
rs1037449903
|
0.00001
|
NM_000548.5(TSC2):c.600-13G>C
|
rs45517116
|
0.00001
|
NM_000548.5(TSC2):c.600-14G>A
|
rs1229656999
|
0.00001
|
NM_000548.5(TSC2):c.600-18G>A
|
rs199683502
|
0.00001
|
NM_000548.5(TSC2):c.600-20G>C
|
rs1011228500
|
0.00001
|
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp)
|
rs374410454
|
0.00001
|
NM_000548.5(TSC2):c.642C>T (p.Asp214=)
|
rs763726222
|
0.00001
|
NM_000548.5(TSC2):c.648+17C>A
|
rs755431618
|
0.00001
|
NM_000548.5(TSC2):c.648+19C>T
|
rs1196860918
|
0.00001
|
NM_000548.5(TSC2):c.649-18C>T
|
rs771537061
|
0.00001
|
NM_000548.5(TSC2):c.655C>T (p.Leu219=)
|
rs369046625
|
0.00001
|
NM_000548.5(TSC2):c.666G>A (p.Leu222=)
|
rs761351907
|
0.00001
|
NM_000548.5(TSC2):c.691C>T (p.Leu231=)
|
rs1555498820
|
0.00001
|
NM_000548.5(TSC2):c.694C>T (p.Pro232Ser)
|
rs751846529
|
0.00001
|
NM_000548.5(TSC2):c.695C>T (p.Pro232Leu)
|
rs760100924
|
0.00001
|
NM_000548.5(TSC2):c.72G>A (p.Pro24=)
|
rs754121475
|
0.00001
|
NM_000548.5(TSC2):c.733C>T (p.Arg245Cys)
|
rs375574283
|
0.00001
|
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser)
|
rs762104739
|
0.00001
|
NM_000548.5(TSC2):c.744C>T (p.Asn248=)
|
rs767565673
|
0.00001
|
NM_000548.5(TSC2):c.756C>G (p.Leu252=)
|
rs1026303888
|
0.00001
|
NM_000548.5(TSC2):c.774+12G>A
|
rs1299521085
|
0.00001
|
NM_000548.5(TSC2):c.774+15A>T
|
rs747841616
|
0.00001
|
NM_000548.5(TSC2):c.775-12T>C
|
rs753920940
|
0.00001
|
NM_000548.5(TSC2):c.775-14A>G
|
rs969379684
|
0.00001
|
NM_000548.5(TSC2):c.775-16G>A
|
rs1359566041
|
0.00001
|
NM_000548.5(TSC2):c.775-17C>T
|
rs137854299
|
0.00001
|
NM_000548.5(TSC2):c.775-7C>G
|
rs368164133
|
0.00001
|
NM_000548.5(TSC2):c.782G>A (p.Arg261Gln)
|
rs45502703
|
0.00001
|
NM_000548.5(TSC2):c.786C>T (p.Asn262=)
|
rs1485087555
|
0.00001
|
NM_000548.5(TSC2):c.789C>T (p.Leu263=)
|
rs1478468856
|
0.00001
|
NM_000548.5(TSC2):c.813C>T (p.Ser271=)
|
rs752676212
|
0.00001
|
NM_000548.5(TSC2):c.816C>A (p.Ala272=)
|
rs917246659
|
0.00001
|
NM_000548.5(TSC2):c.822C>T (p.Tyr274=)
|
rs1347972318
|
0.00001
|
NM_000548.5(TSC2):c.837C>T (p.Leu279=)
|
rs746694709
|
0.00001
|
NM_000548.5(TSC2):c.83C>A (p.Pro28His)
|
rs1057522105
|
0.00001
|
NM_000548.5(TSC2):c.848+10G>A
|
rs1405925936
|
0.00001
|
NM_000548.5(TSC2):c.848+12G>A
|
rs1456160330
|
0.00001
|
NM_000548.5(TSC2):c.848+13G>T
|
rs1402619251
|
0.00001
|
NM_000548.5(TSC2):c.848+19G>A
|
rs1044793633
|
0.00001
|
NM_000548.5(TSC2):c.848+20C>T
|
rs1459744028
|
0.00001
|
NM_000548.5(TSC2):c.849-16T>C
|
rs1355739947
|
0.00001
|
NM_000548.5(TSC2):c.849-17C>A
|
rs45517133
|
0.00001
|
NM_000548.5(TSC2):c.849-9C>T
|
rs1353108408
|
0.00001
|
NM_000548.5(TSC2):c.864C>G (p.Asp288Glu)
|
rs780887572
|
0.00001
|
NM_000548.5(TSC2):c.866C>T (p.Ala289Val)
|
rs755631210
|
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.874C>T (p.Leu292=)
|
rs1031153520
|
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.886G>A (p.Val296Met)
|
rs747237113
|
0.00001
|
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser)
|
rs747310967
|
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.951A>G (p.Thr317=)
|
rs767275578
|
0.00001
|
NM_000548.5(TSC2):c.954T>A (p.Ser318=)
|
rs1328588034
|
0.00001
|
NM_000548.5(TSC2):c.976-9G>A
|
rs367613848
|
0.00001
|
NM_000548.5(TSC2):c.978C>G (p.Ala326=)
|
rs1294670888
|
0.00001
|
NM_000548.3(TSC2):c.4572_4577dupACAGTC
|
|
|
NM_000548.5(TSC2):c.1002G>A (p.Val334=)
|
|
|
NM_000548.5(TSC2):c.1005C>T (p.Ser335=)
|
rs397514924
|
|
NM_000548.5(TSC2):c.1014C>T (p.Ile338=)
|
rs1250621196
|
|
NM_000548.5(TSC2):c.1018C>T (p.Leu340=)
|
rs2151135855
|
|
NM_000548.5(TSC2):c.1023C>T (p.Ser341=)
|
rs2086525075
|
|
NM_000548.5(TSC2):c.1035C>T (p.Leu345=)
|
rs1476429068
|
|
NM_000548.5(TSC2):c.1038C>T (p.Ile346=)
|
rs2086528091
|
|
NM_000548.5(TSC2):c.1044G>A (p.Lys348=)
|
rs2086529149
|
|
NM_000548.5(TSC2):c.1047T>C (p.Tyr349=)
|
rs1042628888
|
|
NM_000548.5(TSC2):c.1050G>A (p.Arg350=)
|
rs1371264521
|
|
NM_000548.5(TSC2):c.1052A>G (p.Lys351Arg)
|
rs748109163
|
|
NM_000548.5(TSC2):c.1053G>A (p.Lys351=)
|
rs2151137077
|
|
NM_000548.5(TSC2):c.1059C>A (p.Leu353=)
|
rs796053472
|
|
NM_000548.5(TSC2):c.105G>A (p.Gln35=)
|
rs2150972829
|
|
NM_000548.5(TSC2):c.1062G>A (p.Gln354=)
|
rs771943476
|
|
NM_000548.5(TSC2):c.1065G>A (p.Val355=)
|
|
|
NM_000548.5(TSC2):c.1074G>C (p.Trp358Cys)
|
|
|
NM_000548.5(TSC2):c.1077C>T (p.Asp359=)
|
rs1555500558
|
|
NM_000548.5(TSC2):c.1080T>C (p.Ile360=)
|
rs2086534827
|
|
NM_000548.5(TSC2):c.1081C>T (p.Leu361=)
|
rs796053483
|
|
NM_000548.5(TSC2):c.1083G>A (p.Leu361=)
|
rs1057524138
|
|
NM_000548.5(TSC2):c.1086G>A (p.Leu362=)
|
rs1416323572
|
|
NM_000548.5(TSC2):c.1086G>C (p.Leu362=)
|
rs1416323572
|
|
NM_000548.5(TSC2):c.1089C>T (p.Asn363=)
|
|
|
NM_000548.5(TSC2):c.1092C>T (p.Ile364=)
|
rs2151138326
|
|
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.1113G>A (p.Gln371=)
|
|
|
NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro)
|
rs1060500919
|
|
NM_000548.5(TSC2):c.1119+10G>A
|
|
|
NM_000548.5(TSC2):c.1119+10G>C
|
rs772040527
|
|
NM_000548.5(TSC2):c.1119+11G>C
|
rs1026151983
|
|
NM_000548.5(TSC2):c.1119+11G>T
|
rs1026151983
|
|
NM_000548.5(TSC2):c.1119+12G>A
|
|
|
NM_000548.5(TSC2):c.1119+13C>T
|
|
|
NM_000548.5(TSC2):c.1119+14A>G
|
|
|
NM_000548.5(TSC2):c.1119+18G>A
|
|
|
NM_000548.5(TSC2):c.1119+19C>T
|
rs2151140026
|
|
NM_000548.5(TSC2):c.1119+20T>C
|
|
|
NM_000548.5(TSC2):c.1119+20_1119+29del
|
rs757984503
|
|
NM_000548.5(TSC2):c.1119+3G>C
|
rs79668097
|
|
NM_000548.5(TSC2):c.1119+6_1119+28del
|
rs1358834036
|
|
NM_000548.5(TSC2):c.1119+8G>C
|
rs1377444061
|
|
NM_000548.5(TSC2):c.1119+9G>T
|
rs748164142
|
|
NM_000548.5(TSC2):c.1120-11T>C
|
|
|
NM_000548.5(TSC2):c.1120-12C>A
|
|
|
NM_000548.5(TSC2):c.1120-12C>T
|
|
|
NM_000548.5(TSC2):c.1120-15T>C
|
|
|
NM_000548.5(TSC2):c.1120-15T>G
|
|
|
NM_000548.5(TSC2):c.1120-19A>G
|
|
|
NM_000548.5(TSC2):c.1120-19A>T
|
|
|
NM_000548.5(TSC2):c.1120-20C>T
|
rs2086675709
|
|
NM_000548.5(TSC2):c.1120-4G>A
|
|
|
NM_000548.5(TSC2):c.1120-5T>C
|
rs896351318
|
|
NM_000548.5(TSC2):c.1120-7A>G
|
|
|
NM_000548.5(TSC2):c.1120-9G>A
|
|
|
NM_000548.5(TSC2):c.1120-9G>C
|
rs2151153539
|
|
NM_000548.5(TSC2):c.1128C>T (p.Asp376=)
|
rs1183791367
|
|
NM_000548.5(TSC2):c.1134G>A (p.Pro378=)
|
rs754343186
|
|
NM_000548.5(TSC2):c.1137G>A (p.Glu379=)
|
rs1057519260
|
|
NM_000548.5(TSC2):c.1146C>T (p.Thr382=)
|
rs887128869
|
|
NM_000548.5(TSC2):c.1149C>T (p.Ile383=)
|
rs764246333
|
|
NM_000548.5(TSC2):c.114T>C (p.Phe38=)
|
rs1060504110
|
|
NM_000548.5(TSC2):c.1155T>C (p.His385=)
|
rs2151154815
|
|
NM_000548.5(TSC2):c.1158C>T (p.Asp386=)
|
rs2151154909
|
|
NM_000548.5(TSC2):c.1159C>T (p.Leu387=)
|
|
|
NM_000548.5(TSC2):c.1161G>A (p.Leu387=)
|
rs781336082
|
|
NM_000548.5(TSC2):c.1161G>C (p.Leu387=)
|
rs781336082
|
|
NM_000548.5(TSC2):c.1170G>T (p.Thr390=)
|
rs376144933
|
|
NM_000548.5(TSC2):c.1173G>A (p.Val391=)
|
|
|
NM_000548.5(TSC2):c.1179G>A (p.Glu393=)
|
rs2151155465
|
|
NM_000548.5(TSC2):c.117C>A (p.Ile39=)
|
rs2150973249
|
|
NM_000548.5(TSC2):c.1180C>T (p.Leu394=)
|
rs1409309186
|
|
NM_000548.5(TSC2):c.1182G>A (p.Leu394=)
|
rs779951754
|
|
NM_000548.5(TSC2):c.1200C>T (p.Phe400=)
|
|
|
NM_000548.5(TSC2):c.1204G>A (p.Gly402Arg)
|
rs771561593
|
|
NM_000548.5(TSC2):c.1206G>A (p.Gly402=)
|
rs558873383
|
|
NM_000548.5(TSC2):c.1206G>C (p.Gly402=)
|
|
|
NM_000548.5(TSC2):c.1212G>A (p.Gln404=)
|
rs1156766051
|
|
NM_000548.5(TSC2):c.1215G>A (p.Glu405=)
|
rs2151156348
|
|
NM_000548.5(TSC2):c.1228C>T (p.Leu410=)
|
rs528727637
|
|
NM_000548.5(TSC2):c.1230G>A (p.Leu410=)
|
rs2151156690
|
|
NM_000548.5(TSC2):c.1230G>C (p.Leu410=)
|
rs2151156690
|
|
NM_000548.5(TSC2):c.1236G>A (p.Glu412=)
|
rs1596303728
|
|
NM_000548.5(TSC2):c.1245G>C (p.Ala415=)
|
rs757325185
|
|
NM_000548.5(TSC2):c.1248C>T (p.Asp416=)
|
rs1555501144
|
|
NM_000548.5(TSC2):c.1257+10C>G
|
rs756063576
|
|
NM_000548.5(TSC2):c.1257+10C>T
|
rs756063576
|
|
NM_000548.5(TSC2):c.1257+12del
|
|
|
NM_000548.5(TSC2):c.1257+13C>G
|
rs780010894
|
|
NM_000548.5(TSC2):c.1257+15T>C
|
|
|
NM_000548.5(TSC2):c.1257+18G>A
|
rs2151157676
|
|
NM_000548.5(TSC2):c.1257+18G>C
|
|
|
NM_000548.5(TSC2):c.1257+7C>T
|
rs1596303823
|
|
NM_000548.5(TSC2):c.1257+8C>G
|
rs767392684
|
|
NM_000548.5(TSC2):c.1257+8C>T
|
|
|
NM_000548.5(TSC2):c.1257+9C>A
|
rs1166139497
|
|
NM_000548.5(TSC2):c.1258-10C>G
|
rs794727093
|
|
NM_000548.5(TSC2):c.1258-10C>T
|
rs794727093
|
|
NM_000548.5(TSC2):c.1258-10_1258-8del
|
rs767749967
|
|
NM_000548.5(TSC2):c.1258-13C>T
|
|
|
NM_000548.5(TSC2):c.1258-15C>T
|
rs2151162848
|
|
NM_000548.5(TSC2):c.1258-17G>C
|
|
|
NM_000548.5(TSC2):c.1258-18C>G
|
|
|
NM_000548.5(TSC2):c.1258-20A>G
|
rs2151162687
|
|
NM_000548.5(TSC2):c.1258-4A>G
|
rs2086763634
|
|
NM_000548.5(TSC2):c.1258-4A>T
|
|
|
NM_000548.5(TSC2):c.1258-5G>A
|
rs925954967
|
|
NM_000548.5(TSC2):c.1258-7T>C
|
|
|
NM_000548.5(TSC2):c.1258-8T>G
|
rs1175574879
|
|
NM_000548.5(TSC2):c.1258-8_1258-6del
|
rs2151162953
|
|
NM_000548.5(TSC2):c.1260G>A (p.Glu420=)
|
rs876658585
|
|
NM_000548.5(TSC2):c.1263C>G (p.Ser421=)
|
|
|
NM_000548.5(TSC2):c.1266C>T (p.Ser422=)
|
|
|
NM_000548.5(TSC2):c.1269C>A (p.Leu423=)
|
|
|
NM_000548.5(TSC2):c.126G>C (p.Ala42=)
|
rs886043548
|
|
NM_000548.5(TSC2):c.1275C>T (p.Asn425=)
|
rs878854076
|
|
NM_000548.5(TSC2):c.1278G>A (p.Leu426=)
|
rs749771063
|
|
NM_000548.5(TSC2):c.1281C>T (p.Ile427=)
|
rs45478892
|
|
NM_000548.5(TSC2):c.1284C>G (p.Ser428=)
|
rs1325874616
|
|
NM_000548.5(TSC2):c.1287T>C (p.Tyr429=)
|
|
|
NM_000548.5(TSC2):c.1293G>T (p.Ala431=)
|
rs45517162
|
|
NM_000548.5(TSC2):c.1299C>T (p.Ser433=)
|
rs993220492
|
|
NM_000548.5(TSC2):c.129A>G (p.Glu43=)
|
rs1295533489
|
|
NM_000548.5(TSC2):c.1305C>T (p.His435=)
|
rs766461065
|
|
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu)
|
rs796053485
|
|
NM_000548.5(TSC2):c.1308G>C (p.Pro436=)
|
rs753764275
|
|
NM_000548.5(TSC2):c.1308G>T (p.Pro436=)
|
rs753764275
|
|
NM_000548.5(TSC2):c.1311C>A (p.Ala437=)
|
rs752435039
|
|
NM_000548.5(TSC2):c.1311C>G (p.Ala437=)
|
|
|
NM_000548.5(TSC2):c.1311C>T (p.Ala437=)
|
|
|
NM_000548.5(TSC2):c.1320C>A (p.Gly440=)
|
rs983982198
|
|
NM_000548.5(TSC2):c.1320C>G (p.Gly440=)
|
rs983982198
|
|
NM_000548.5(TSC2):c.1329G>A (p.Gln443=)
|
rs1459924996
|
|
NM_000548.5(TSC2):c.1335G>T (p.Leu445=)
|
rs2151164864
|
|
NM_000548.5(TSC2):c.1338G>A (p.Gln446=)
|
rs2151165007
|
|
NM_000548.5(TSC2):c.133C>T (p.Leu45=)
|
rs1555494707
|
|
NM_000548.5(TSC2):c.1341G>T (p.Ala447=)
|
rs141609319
|
|
NM_000548.5(TSC2):c.1342C>T (p.Leu448=)
|
|
|
NM_000548.5(TSC2):c.1353A>G (p.Arg451=)
|
rs1555501456
|
|
NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu)
|
rs769147552
|
|
NM_000548.5(TSC2):c.1359C>T (p.Phe453=)
|
rs2151165435
|
|
NM_000548.5(TSC2):c.135G>A (p.Leu45=)
|
|
|
NM_000548.5(TSC2):c.135G>C (p.Leu45=)
|
rs1555494715
|
|
NM_000548.5(TSC2):c.135G>T (p.Leu45=)
|
rs1555494715
|
|
NM_000548.5(TSC2):c.1361+10C>T
|
rs1023095335
|
|
NM_000548.5(TSC2):c.1361+11C>T
|
|
|
NM_000548.5(TSC2):c.1361+14T>A
|
|
|
NM_000548.5(TSC2):c.1361+15G>A
|
rs1252164517
|
|
NM_000548.5(TSC2):c.1361+18G>A
|
|
|
NM_000548.5(TSC2):c.1361+18G>T
|
rs140223009
|
|
NM_000548.5(TSC2):c.1361+19C>T
|
|
|
NM_000548.5(TSC2):c.1361+20C>T
|
|
|
NM_000548.5(TSC2):c.1361+8G>A
|
rs1596306003
|
|
NM_000548.5(TSC2):c.1361+8G>T
|
rs1596306003
|
|
NM_000548.5(TSC2):c.1361+9T>C
|
rs1041094432
|
|
NM_000548.5(TSC2):c.1362-10C>G
|
rs45446697
|
|
NM_000548.5(TSC2):c.1362-12G>A
|
|
|
NM_000548.5(TSC2):c.1362-13T>C
|
rs2151170217
|
|
NM_000548.5(TSC2):c.1362-15G>T
|
|
|
NM_000548.5(TSC2):c.1362-16G>A
|
rs1174276562
|
|
NM_000548.5(TSC2):c.1362-17A>C
|
|
|
NM_000548.5(TSC2):c.1362-17A>G
|
|
|
NM_000548.5(TSC2):c.1362-18C>T
|
|
|
NM_000548.5(TSC2):c.1362-20A>G
|
|
|
NM_000548.5(TSC2):c.1362-4G>T
|
rs397515145
|
|
NM_000548.5(TSC2):c.1362-5del
|
rs2086819893
|
|
NM_000548.5(TSC2):c.1362-6C>T
|
rs2086820146
|
|
NM_000548.5(TSC2):c.1362-7C>G
|
rs1555501647
|
|
NM_000548.5(TSC2):c.1362-7C>T
|
rs1555501647
|
|
NM_000548.5(TSC2):c.1362-8T>C
|
rs2151170386
|
|
NM_000548.5(TSC2):c.1362-9G>T
|
|
|
NM_000548.5(TSC2):c.1362-9_1362-6dup
|
rs2151170297
|
|
NM_000548.5(TSC2):c.1362G>C (p.Arg454Ser)
|
rs374252944
|
|
NM_000548.5(TSC2):c.1377C>A (p.Gly459=)
|
rs45517170
|
|
NM_000548.5(TSC2):c.1377C>G (p.Gly459=)
|
rs45517170
|
|
NM_000548.5(TSC2):c.138+13C>T
|
rs2084692975
|
|
NM_000548.5(TSC2):c.138+14C>T
|
rs201204330
|
|
NM_000548.5(TSC2):c.138+16G>A
|
rs1555494744
|
|
NM_000548.5(TSC2):c.138+17T>A
|
|
|
NM_000548.5(TSC2):c.138+19T>C
|
rs1185810797
|
|
NM_000548.5(TSC2):c.138+19T>G
|
rs1185810797
|
|
NM_000548.5(TSC2):c.138+20C>T
|
rs45517092
|
|
NM_000548.5(TSC2):c.138+7G>A
|
rs1596234900
|
|
NM_000548.5(TSC2):c.1380C>A (p.Ala460=)
|
rs1060504113
|
|
NM_000548.5(TSC2):c.1383G>A (p.Val461=)
|
rs760393399
|
|
NM_000548.5(TSC2):c.1389C>A (p.Ile463=)
|
rs1188230416
|
|
NM_000548.5(TSC2):c.139-10C>T
|
rs996641937
|
|
NM_000548.5(TSC2):c.139-11TC[3]
|
|
|
NM_000548.5(TSC2):c.139-13C>A
|
|
|
NM_000548.5(TSC2):c.139-13C>T
|
|
|
NM_000548.5(TSC2):c.139-14T>G
|
rs1366210687
|
|
NM_000548.5(TSC2):c.139-15T>A
|
rs563094714
|
|
NM_000548.5(TSC2):c.139-16T>C
|
|
|
NM_000548.5(TSC2):c.139-17C>G
|
|
|
NM_000548.5(TSC2):c.139-17C>T
|
rs748987903
|
|
NM_000548.5(TSC2):c.139-17_139-15del
|
rs750270314
|
|
NM_000548.5(TSC2):c.139-20C>A
|
|
|
NM_000548.5(TSC2):c.139-20C>T
|
|
|
NM_000548.5(TSC2):c.139-4C>G
|
rs747561824
|
|
NM_000548.5(TSC2):c.139-4C>T
|
rs747561824
|
|
NM_000548.5(TSC2):c.139-5T>G
|
|
|
NM_000548.5(TSC2):c.139-8C>G
|
rs1382083945
|
|
NM_000548.5(TSC2):c.139-9_139-8delinsCT
|
rs2150994742
|
|
NM_000548.5(TSC2):c.1392G>A (p.Lys464=)
|
|
|
NM_000548.5(TSC2):c.1395G>A (p.Val465=)
|
rs2151171914
|
|
NM_000548.5(TSC2):c.1396C>T (p.Leu466=)
|
|
|
NM_000548.5(TSC2):c.1404G>C (p.Val468=)
|
rs778247396
|
|
NM_000548.5(TSC2):c.1405C>T (p.Leu469=)
|
rs1596307389
|
|
NM_000548.5(TSC2):c.1410C>T (p.Ser470=)
|
rs2151172357
|
|
NM_000548.5(TSC2):c.1416G>A (p.Val472=)
|
rs1596307406
|
|
NM_000548.5(TSC2):c.1417C>T (p.Leu473=)
|
rs1321215329
|
|
NM_000548.5(TSC2):c.141A>G (p.Glu47=)
|
rs137854133
|
|
NM_000548.5(TSC2):c.1422C>T (p.Leu474=)
|
rs565646854
|
|
NM_000548.5(TSC2):c.1425C>T (p.Ile475=)
|
rs1596307430
|
|
NM_000548.5(TSC2):c.1428C>T (p.Asn476=)
|
rs2151172933
|
|
NM_000548.5(TSC2):c.1434G>A (p.Gln478=)
|
rs1555501735
|
|
NM_000548.5(TSC2):c.1443+10C>T
|
rs1222870951
|
|
NM_000548.5(TSC2):c.1443+14C>A
|
rs753454333
|
|
NM_000548.5(TSC2):c.1443+16G>A
|
|
|
NM_000548.5(TSC2):c.1443+4C>A
|
rs45517172
|
|
NM_000548.5(TSC2):c.1443+4C>G
|
rs45517172
|
|
NM_000548.5(TSC2):c.1443+8T>A
|
|
|
NM_000548.5(TSC2):c.1443+8T>G
|
|
|
NM_000548.5(TSC2):c.1443+9C>G
|
rs2151173612
|
|
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
|
|
|
NM_000548.5(TSC2):c.1444-17C>G
|
|
|
NM_000548.5(TSC2):c.1444-19del
|
|
|
NM_000548.5(TSC2):c.1444-20C>T
|
|
|
NM_000548.5(TSC2):c.1444-4G>T
|
|
|
NM_000548.5(TSC2):c.1444-7T>C
|
rs2151188110
|
|
NM_000548.5(TSC2):c.1444-8C>T
|
rs749236601
|
|
NM_000548.5(TSC2):c.1446G>A (p.Glu482=)
|
rs2151188264
|
|
NM_000548.5(TSC2):c.1449G>A (p.Glu483=)
|
rs768511587
|
|
NM_000548.5(TSC2):c.1452G>A (p.Leu484=)
|
rs2087007660
|
|
NM_000548.5(TSC2):c.1461A>T (p.Ser487=)
|
|
|
NM_000548.5(TSC2):c.1464G>C (p.Val488=)
|
rs1596311870
|
|
NM_000548.5(TSC2):c.1470C>A (p.Ile490=)
|
rs753344988
|
|
NM_000548.5(TSC2):c.1473G>T (p.Ser491=)
|
rs764767361
|
|
NM_000548.5(TSC2):c.1479C>G (p.Leu493=)
|
rs137854145
|
|
NM_000548.5(TSC2):c.1479C>T (p.Leu493=)
|
rs137854145
|
|
NM_000548.5(TSC2):c.147C>T (p.Ser49=)
|
rs1555495692
|
|
NM_000548.5(TSC2):c.1482C>G (p.Ser494=)
|
rs549189961
|
|
NM_000548.5(TSC2):c.1482C>T (p.Ser494=)
|
rs549189961
|
|
NM_000548.5(TSC2):c.1485C>T (p.His495=)
|
rs2151189170
|
|
NM_000548.5(TSC2):c.1488C>T (p.Ile496=)
|
rs1596312013
|
|
NM_000548.5(TSC2):c.1491C>G (p.Pro497=)
|
rs781367910
|
|
NM_000548.5(TSC2):c.1503C>T (p.Asp501=)
|
rs2087016490
|
|
NM_000548.5(TSC2):c.1506C>T (p.His502=)
|
|
|
NM_000548.5(TSC2):c.1509G>A (p.Gln503=)
|
rs2151189853
|
|
NM_000548.5(TSC2):c.1512C>A (p.Val504=)
|
rs146359990
|
|
NM_000548.5(TSC2):c.1512C>T (p.Val504=)
|
rs146359990
|
|
NM_000548.5(TSC2):c.1519C>T (p.Leu507=)
|
|
|
NM_000548.5(TSC2):c.1521G>A (p.Leu507=)
|
rs2151190089
|
|
NM_000548.5(TSC2):c.1521G>T (p.Leu507=)
|
rs2151190089
|
|
NM_000548.5(TSC2):c.1524C>T (p.Ala508=)
|
rs2151190194
|
|
NM_000548.5(TSC2):c.1527C>A (p.Thr509=)
|
|
|
NM_000548.5(TSC2):c.1527C>G (p.Thr509=)
|
rs2151190276
|
|
NM_000548.5(TSC2):c.1530G>A (p.Gln510=)
|
|
|
NM_000548.5(TSC2):c.1533G>A (p.Leu511=)
|
rs771932622
|
|
NM_000548.5(TSC2):c.1534C>T (p.Leu512=)
|
|
|
NM_000548.5(TSC2):c.1536G>C (p.Leu512=)
|
rs2151190487
|
|
NM_000548.5(TSC2):c.1539G>T (p.Val513=)
|
rs2087022460
|
|
NM_000548.5(TSC2):c.153A>G (p.Glu51=)
|
rs746366461
|
|
NM_000548.5(TSC2):c.1545G>A (p.Leu515=)
|
|
|
NM_000548.5(TSC2):c.1548A>G (p.Ala516=)
|
rs2151190793
|
|
NM_000548.5(TSC2):c.1551G>A (p.Glu517=)
|
|
|
NM_000548.5(TSC2):c.1560C>T (p.His520=)
|
rs1596312329
|
|
NM_000548.5(TSC2):c.1563A>T (p.Thr521=)
|
rs1464352573
|
|
NM_000548.5(TSC2):c.1569C>T (p.His523=)
|
rs1420211177
|
|
NM_000548.5(TSC2):c.156T>C (p.Cys52=)
|
|
|
NM_000548.5(TSC2):c.1579C>T (p.Leu527=)
|
rs762173463
|
|
NM_000548.5(TSC2):c.1581G>A (p.Leu527=)
|
|
|
NM_000548.5(TSC2):c.1590C>A (p.Ile530=)
|
|
|
NM_000548.5(TSC2):c.1599+12T>C
|
rs554900745
|
|
NM_000548.5(TSC2):c.1599+13G>T
|
|
|
NM_000548.5(TSC2):c.1599+14T>C
|
|
|
NM_000548.5(TSC2):c.1599+16C>A
|
rs45517181
|
|
NM_000548.5(TSC2):c.1599+16C>T
|
rs45517181
|
|
NM_000548.5(TSC2):c.1599+17C>A
|
rs1438908951
|
|
NM_000548.5(TSC2):c.1599+17C>G
|
|
|
NM_000548.5(TSC2):c.1599+17C>T
|
rs1438908951
|
|
NM_000548.5(TSC2):c.1599+18C>G
|
|
|
NM_000548.5(TSC2):c.1599+20G>A
|
|
|
NM_000548.5(TSC2):c.1599+7G>A
|
rs1261800438
|
|
NM_000548.5(TSC2):c.1599+8C>T
|
rs780311327
|
|
NM_000548.5(TSC2):c.1599+9C>A
|
|
|
NM_000548.5(TSC2):c.1599+9_1599+34dup
|
rs1555502601
|
|
NM_000548.5(TSC2):c.1600-10C>G
|
rs768188836
|
|
NM_000548.5(TSC2):c.1600-14C>A
|
rs45517185
|
|
NM_000548.5(TSC2):c.1600-14C>G
|
rs45517185
|
|
NM_000548.5(TSC2):c.1600-16G>C
|
|
|
NM_000548.5(TSC2):c.1600-18C>G
|
|
|
NM_000548.5(TSC2):c.1600-18C>T
|
rs2151205529
|
|
NM_000548.5(TSC2):c.1600-19C>A
|
rs1397268426
|
|
NM_000548.5(TSC2):c.1600-19C>G
|
rs1397268426
|
|
NM_000548.5(TSC2):c.1600-19C>T
|
|
|
NM_000548.5(TSC2):c.1600-4A>G
|
|
|
NM_000548.5(TSC2):c.1600-5C>T
|
rs1426258365
|
|
NM_000548.5(TSC2):c.1600-7T>C
|
rs1459453778
|
|
NM_000548.5(TSC2):c.1600-8C>G
|
rs1555503101
|
|
NM_000548.5(TSC2):c.1600-8C>T
|
rs1555503101
|
|
NM_000548.5(TSC2):c.1601T>G (p.Val534Gly)
|
rs924098595
|
|
NM_000548.5(TSC2):c.1602G>A (p.Val534=)
|
rs2151206157
|
|
NM_000548.5(TSC2):c.1608C>G (p.Ala536=)
|
rs2151206478
|
|
NM_000548.5(TSC2):c.1608C>T (p.Ala536=)
|
rs2151206478
|
|
NM_000548.5(TSC2):c.1611C>T (p.Arg537=)
|
rs45469702
|
|
NM_000548.5(TSC2):c.1614C>T (p.Ser538=)
|
rs759762459
|
|
NM_000548.5(TSC2):c.1617C>A (p.Leu539=)
|
rs1596317183
|
|
NM_000548.5(TSC2):c.1617C>G (p.Leu539=)
|
rs1596317183
|
|
NM_000548.5(TSC2):c.1617C>T (p.Leu539=)
|
rs1596317183
|
|
NM_000548.5(TSC2):c.1620C>T (p.Ser540=)
|
rs2151207054
|
|
NM_000548.5(TSC2):c.1623A>G (p.Pro541=)
|
|
|
NM_000548.5(TSC2):c.1623A>T (p.Pro541=)
|
|
|
NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu)
|
rs764191178
|
|
NM_000548.5(TSC2):c.1626C>G (p.Pro542=)
|
rs376234285
|
|
NM_000548.5(TSC2):c.1626C>T (p.Pro542=)
|
rs376234285
|
|
NM_000548.5(TSC2):c.1629G>T (p.Pro543=)
|
|
|
NM_000548.5(TSC2):c.1633C>T (p.Leu545=)
|
rs1060504103
|
|
NM_000548.5(TSC2):c.1635G>A (p.Leu545=)
|
rs755923499
|
|
NM_000548.5(TSC2):c.1644G>A (p.Arg548=)
|
|
|
NM_000548.5(TSC2):c.1650G>A (p.Val550=)
|
|
|
NM_000548.5(TSC2):c.1653C>G (p.Ala551=)
|
rs202171361
|
|
NM_000548.5(TSC2):c.165C>T (p.Asn55=)
|
rs1596245687
|
|
NM_000548.5(TSC2):c.1665C>T (p.Ala555=)
|
rs2151208963
|
|
NM_000548.5(TSC2):c.1668C>G (p.Ser556=)
|
rs764091433
|
|
NM_000548.5(TSC2):c.1668C>T (p.Ser556=)
|
rs764091433
|
|
NM_000548.5(TSC2):c.1677T>C (p.Asp559=)
|
rs1555503256
|
|
NM_000548.5(TSC2):c.1680G>C (p.Val560=)
|
rs1247485772
|
|
NM_000548.5(TSC2):c.1683G>A (p.Lys561=)
|
rs2087238377
|
|
NM_000548.5(TSC2):c.1692C>T (p.Val564=)
|
rs2151210021
|
|
NM_000548.5(TSC2):c.1693C>T (p.Leu565=)
|
rs878854078
|
|
NM_000548.5(TSC2):c.1698G>A (p.Gly566=)
|
|
|
NM_000548.5(TSC2):c.1701T>C (p.Leu567=)
|
|
|
NM_000548.5(TSC2):c.1707C>G (p.Val569=)
|
|
|
NM_000548.5(TSC2):c.1707C>T (p.Val569=)
|
rs1379203110
|
|
NM_000548.5(TSC2):c.1710C>T (p.Ile570=)
|
rs1470229525
|
|
NM_000548.5(TSC2):c.1713T>C (p.Leu571=)
|
rs2151210746
|
|
NM_000548.5(TSC2):c.1713T>G (p.Leu571=)
|
rs2151210746
|
|
NM_000548.5(TSC2):c.1716+10C>T
|
rs45464995
|
|
NM_000548.5(TSC2):c.1716+13C>G
|
|
|
NM_000548.5(TSC2):c.1716+15C>G
|
rs199964793
|
|
NM_000548.5(TSC2):c.1716+18G>A
|
|
|
NM_000548.5(TSC2):c.1716+3G>C
|
rs1596317691
|
|
NM_000548.5(TSC2):c.1717-10C>G
|
|
|
NM_000548.5(TSC2):c.1717-11T>C
|
rs2151277310
|
|
NM_000548.5(TSC2):c.1717-12C>G
|
rs2151277263
|
|
NM_000548.5(TSC2):c.1717-12C>T
|
|
|
NM_000548.5(TSC2):c.1717-13C>T
|
rs2151277233
|
|
NM_000548.5(TSC2):c.1717-15G>A
|
rs372949465
|
|
NM_000548.5(TSC2):c.1717-15_1717-13del
|
|
|
NM_000548.5(TSC2):c.1717-17G>A
|
rs2151277082
|
|
NM_000548.5(TSC2):c.1717-17G>C
|
rs2151277082
|
|
NM_000548.5(TSC2):c.1717-18T>C
|
|
|
NM_000548.5(TSC2):c.1717-19C>T
|
rs2151277025
|
|
NM_000548.5(TSC2):c.1717-20G>A
|
rs1555505006
|
|
NM_000548.5(TSC2):c.1717-20G>T
|
rs1555505006
|
|
NM_000548.5(TSC2):c.1717-4G>A
|
|
|
NM_000548.5(TSC2):c.1717-5T>C
|
|
|
NM_000548.5(TSC2):c.1717-8C>A
|
rs755425128
|
|
NM_000548.5(TSC2):c.1717-8C>G
|
rs755425128
|
|
NM_000548.5(TSC2):c.1717-8C>T
|
|
|
NM_000548.5(TSC2):c.1719C>G (p.Thr573=)
|
|
|
NM_000548.5(TSC2):c.1719C>T (p.Thr573=)
|
rs2151277677
|
|
NM_000548.5(TSC2):c.1721A>G (p.Lys574Arg)
|
rs1060500926
|
|
NM_000548.5(TSC2):c.1722G>A (p.Lys574=)
|
rs1596336026
|
|
NM_000548.5(TSC2):c.1723C>T (p.Leu575=)
|
rs1419122104
|
|
NM_000548.5(TSC2):c.1725G>A (p.Leu575=)
|
rs747173035
|
|
NM_000548.5(TSC2):c.1725G>T (p.Leu575=)
|
rs747173035
|
|
NM_000548.5(TSC2):c.1728C>T (p.Tyr576=)
|
rs966102111
|
|
NM_000548.5(TSC2):c.1729A>G (p.Thr577Ala)
|
rs1204749633
|
|
NM_000548.5(TSC2):c.1732C>T (p.Leu578=)
|
rs1204972424
|
|
NM_000548.5(TSC2):c.1734G>C (p.Leu578=)
|
|
|
NM_000548.5(TSC2):c.1734G>T (p.Leu578=)
|
rs2151278251
|
|
NM_000548.5(TSC2):c.1736C>T (p.Pro579Leu)
|
|
|
NM_000548.5(TSC2):c.1740A>C (p.Ala580=)
|
rs1057522755
|
|
NM_000548.5(TSC2):c.1740A>G (p.Ala580=)
|
rs1057522755
|
|
NM_000548.5(TSC2):c.1743C>T (p.Ser581=)
|
rs775195398
|
|
NM_000548.5(TSC2):c.1744C>T (p.His582Tyr)
|
|
|
NM_000548.5(TSC2):c.1746C>T (p.His582=)
|
rs876658921
|
|
NM_000548.5(TSC2):c.174C>A (p.Ile58=)
|
rs2150995862
|
|
NM_000548.5(TSC2):c.174C>T (p.Ile58=)
|
rs2150995862
|
|
NM_000548.5(TSC2):c.1752G>C (p.Thr584=)
|
rs141285742
|
|
NM_000548.5(TSC2):c.1752G>T (p.Thr584=)
|
rs141285742
|
|
NM_000548.5(TSC2):c.1755T>C (p.Arg585=)
|
rs755484371
|
|
NM_000548.5(TSC2):c.1758G>A (p.Val586=)
|
rs1555505092
|
|
NM_000548.5(TSC2):c.1758G>T (p.Val586=)
|
rs1555505092
|
|
NM_000548.5(TSC2):c.1761T>C (p.Tyr587=)
|
rs753179817
|
|
NM_000548.5(TSC2):c.1764G>A (p.Glu588=)
|
|
|
NM_000548.5(TSC2):c.1768C>T (p.Leu590=)
|
rs758824621
|
|
NM_000548.5(TSC2):c.1770G>C (p.Leu590=)
|
rs778109774
|
|
NM_000548.5(TSC2):c.1770G>T (p.Leu590=)
|
rs778109774
|
|
NM_000548.5(TSC2):c.1773C>G (p.Val591=)
|
rs1596336485
|
|
NM_000548.5(TSC2):c.1773C>T (p.Val591=)
|
rs1596336485
|
|
NM_000548.5(TSC2):c.1776C>T (p.Ser592=)
|
rs1555505122
|
|
NM_000548.5(TSC2):c.1779C>T (p.His593=)
|
rs771078126
|
|
NM_000548.5(TSC2):c.177G>C (p.Arg59=)
|
|
|
NM_000548.5(TSC2):c.1782T>C (p.Ile594=)
|
rs1596336548
|
|
NM_000548.5(TSC2):c.1788C>G (p.Leu596=)
|
rs2151280431
|
|
NM_000548.5(TSC2):c.1791C>T (p.His597=)
|
rs886038350
|
|
NM_000548.5(TSC2):c.1797G>A (p.Lys599=)
|
rs1168827262
|
|
NM_000548.5(TSC2):c.1809C>T (p.Thr603=)
|
rs1016247433
|
|
NM_000548.5(TSC2):c.1812G>A (p.Leu604=)
|
rs2151281344
|
|
NM_000548.5(TSC2):c.1815A>T (p.Pro605=)
|
rs961687056
|
|
NM_000548.5(TSC2):c.1824C>T (p.Ser608=)
|
rs886038351
|
|
NM_000548.5(TSC2):c.1827C>T (p.Ser609=)
|
|
|
NM_000548.5(TSC2):c.1831C>A (p.Arg611=)
|
rs45469298
|
|
NM_000548.5(TSC2):c.1834C>T (p.Leu612=)
|
|
|
NM_000548.5(TSC2):c.1836G>T (p.Leu612=)
|
rs758839898
|
|
NM_000548.5(TSC2):c.1839+11T>C
|
rs1156870913
|
|
NM_000548.5(TSC2):c.1839+11T>G
|
rs1156870913
|
|
NM_000548.5(TSC2):c.1839+12G>A
|
|
|
NM_000548.5(TSC2):c.1839+13G>A
|
rs556485459
|
|
NM_000548.5(TSC2):c.1839+13G>C
|
|
|
NM_000548.5(TSC2):c.1839+15G>A
|
rs2151282851
|
|
NM_000548.5(TSC2):c.1839+15G>C
|
|
|
NM_000548.5(TSC2):c.1839+15G>T
|
rs2151282851
|
|
NM_000548.5(TSC2):c.1839+17T>G
|
rs1401501199
|
|
NM_000548.5(TSC2):c.1839+18G>A
|
|
|
NM_000548.5(TSC2):c.1839+18G>C
|
rs2151282939
|
|
NM_000548.5(TSC2):c.1839+20G>C
|
rs569912958
|
|
NM_000548.5(TSC2):c.1839+20G>T
|
rs569912958
|
|
NM_000548.5(TSC2):c.1839+20_1839+38del
|
rs2151282952
|
|
NM_000548.5(TSC2):c.1839+4T>C
|
rs1246472342
|
|
NM_000548.5(TSC2):c.1839+5G>C
|
rs200568460
|
|
NM_000548.5(TSC2):c.1839+7T>C
|
|
|
NM_000548.5(TSC2):c.1839+7_1839+8dup
|
|
|
NM_000548.5(TSC2):c.1839+8G>A
|
rs778061556
|
|
NM_000548.5(TSC2):c.1839+9G>C
|
rs751834233
|
|
NM_000548.5(TSC2):c.1839+9G>T
|
rs751834233
|
|
NM_000548.5(TSC2):c.1839+9del
|
rs2151282659
|
|
NM_000548.5(TSC2):c.1840-10T>C
|
rs2151295657
|
|
NM_000548.5(TSC2):c.1840-11C>T
|
|
|
NM_000548.5(TSC2):c.1840-12T>A
|
|
|
NM_000548.5(TSC2):c.1840-12T>C
|
|
|
NM_000548.5(TSC2):c.1840-13C>G
|
rs1186556063
|
|
NM_000548.5(TSC2):c.1840-13_1840-11del
|
rs1567461599
|
|
NM_000548.5(TSC2):c.1840-14C>A
|
rs539450042
|
|
NM_000548.5(TSC2):c.1840-18C>T
|
rs2151295417
|
|
NM_000548.5(TSC2):c.1840-3C>T
|
rs397515154
|
|
NM_000548.5(TSC2):c.1840-4A>C
|
rs1057523736
|
|
NM_000548.5(TSC2):c.1840-4A>G
|
rs1057523736
|
|
NM_000548.5(TSC2):c.1840-5G>C
|
rs2151295776
|
|
NM_000548.5(TSC2):c.1840-7C>A
|
|
|
NM_000548.5(TSC2):c.1840-7C>G
|
rs1567461653
|
|
NM_000548.5(TSC2):c.1840-7C>T
|
rs1567461653
|
|
NM_000548.5(TSC2):c.1840-7del
|
|
|
NM_000548.5(TSC2):c.1845T>C (p.Phe615=)
|
rs1281870505
|
|
NM_000548.5(TSC2):c.1852C>T (p.Leu618=)
|
rs1164507294
|
|
NM_000548.5(TSC2):c.1858C>T (p.Leu620=)
|
rs1212638240
|
|
NM_000548.5(TSC2):c.1863G>T (p.Leu621=)
|
rs1485599658
|
|
NM_000548.5(TSC2):c.1866G>A (p.Arg622=)
|
rs1397060903
|
|
NM_000548.5(TSC2):c.1866G>C (p.Arg622=)
|
|
|
NM_000548.5(TSC2):c.1866G>T (p.Arg622=)
|
rs1397060903
|
|
NM_000548.5(TSC2):c.1869C>A (p.Ala623=)
|
|
|
NM_000548.5(TSC2):c.1869C>G (p.Ala623=)
|
rs111244727
|
|
NM_000548.5(TSC2):c.1872C>T (p.Asp624=)
|
rs1596342301
|
|
NM_000548.5(TSC2):c.1875A>C (p.Ser625=)
|
rs1555505786
|
|
NM_000548.5(TSC2):c.1875A>G (p.Ser625=)
|
|
|
NM_000548.5(TSC2):c.1878G>A (p.Leu626=)
|
|
|
NM_000548.5(TSC2):c.1878G>C (p.Leu626=)
|
rs2151297078
|
|
NM_000548.5(TSC2):c.1881C>T (p.His627=)
|
|
|
NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly)
|
rs45437797
|
|
NM_000548.5(TSC2):c.1884C>T (p.Arg628=)
|
rs1225653495
|
|
NM_000548.5(TSC2):c.1890C>T (p.Gly630=)
|
rs2151297477
|
|
NM_000548.5(TSC2):c.1891C>T (p.Leu631=)
|
rs575892718
|
|
NM_000548.5(TSC2):c.1893G>A (p.Leu631=)
|
|
|
NM_000548.5(TSC2):c.1893G>C (p.Leu631=)
|
rs1200431267
|
|
NM_000548.5(TSC2):c.1893G>T (p.Leu631=)
|
rs1200431267
|
|
NM_000548.5(TSC2):c.1899C>T (p.Asn633=)
|
rs2088398113
|
|
NM_000548.5(TSC2):c.1905T>C (p.Asp635=)
|
rs1596342515
|
|
NM_000548.5(TSC2):c.1908A>G (p.Gly636=)
|
rs2151298080
|
|
NM_000548.5(TSC2):c.1911C>A (p.Val637=)
|
rs543584836
|
|
NM_000548.5(TSC2):c.1914G>A (p.Val638=)
|
rs933464584
|
|
NM_000548.5(TSC2):c.1914G>T (p.Val638=)
|
|
|
NM_000548.5(TSC2):c.1915C>A (p.Arg639=)
|
rs766451267
|
|
NM_000548.5(TSC2):c.1917G>A (p.Arg639=)
|
rs2151298410
|
|
NM_000548.5(TSC2):c.1920C>T (p.Phe640=)
|
|
|
NM_000548.5(TSC2):c.1923C>T (p.Ser641=)
|
rs1555505825
|
|
NM_000548.5(TSC2):c.1926C>G (p.Pro642=)
|
rs778765636
|
|
NM_000548.5(TSC2):c.1926C>T (p.Pro642=)
|
rs778765636
|
|
NM_000548.5(TSC2):c.1929C>T (p.Tyr643=)
|
rs368710573
|
|
NM_000548.5(TSC2):c.1935C>G (p.Val645=)
|
rs1596342693
|
|
NM_000548.5(TSC2):c.1935C>T (p.Val645=)
|
rs1596342693
|
|
NM_000548.5(TSC2):c.1938C>T (p.Cys646=)
|
rs745414854
|
|
NM_000548.5(TSC2):c.1946+14C>T
|
rs765322549
|
|
NM_000548.5(TSC2):c.1946+15G>T
|
|
|
NM_000548.5(TSC2):c.1946+16C>T
|
rs2151299899
|
|
NM_000548.5(TSC2):c.1946+17C>T
|
|
|
NM_000548.5(TSC2):c.1946+3A>G
|
|
|
NM_000548.5(TSC2):c.1946+5G>T
|
rs766646261
|
|
NM_000548.5(TSC2):c.1946+7G>C
|
rs759576009
|
|
NM_000548.5(TSC2):c.1946+7G>T
|
rs759576009
|
|
NM_000548.5(TSC2):c.1946+8G>A
|
|
|
NM_000548.5(TSC2):c.1946+9_1946+22del
|
|
|
NM_000548.5(TSC2):c.1947-13C>G
|
rs2151303173
|
|
NM_000548.5(TSC2):c.1947-13C>T
|
rs2151303173
|
|
NM_000548.5(TSC2):c.1947-15C>G
|
|
|
NM_000548.5(TSC2):c.1947-17T>G
|
|
|
NM_000548.5(TSC2):c.1947-18C>T
|
|
|
NM_000548.5(TSC2):c.1947-19G>T
|
|
|
NM_000548.5(TSC2):c.1947-19del
|
rs2151303034
|
|
NM_000548.5(TSC2):c.1947-20T>C
|
|
|
NM_000548.5(TSC2):c.1947-4G>A
|
rs201633455
|
|
NM_000548.5(TSC2):c.1947-6C>G
|
|
|
NM_000548.5(TSC2):c.1947-8T>G
|
|
|
NM_000548.5(TSC2):c.1950G>A (p.Glu650=)
|
rs2151303677
|
|
NM_000548.5(TSC2):c.195T>C (p.Cys65=)
|
rs764177596
|
|
NM_000548.5(TSC2):c.1962C>T (p.Gly654=)
|
rs1596344030
|
|
NM_000548.5(TSC2):c.1965T>C (p.Ser655=)
|
|
|
NM_000548.5(TSC2):c.1968G>A (p.Glu656=)
|
rs761781650
|
|
NM_000548.5(TSC2):c.1971G>A (p.Lys657=)
|
rs1596344117
|
|
NM_000548.5(TSC2):c.1974G>A (p.Lys658=)
|
rs1353218608
|
|
NM_000548.5(TSC2):c.1980C>T (p.Ser660=)
|
rs959705365
|
|
NM_000548.5(TSC2):c.1986C>G (p.Pro662=)
|
rs2151305006
|
|
NM_000548.5(TSC2):c.1986C>T (p.Pro662=)
|
|
|
NM_000548.5(TSC2):c.198A>G (p.Glu66=)
|
rs1596245865
|
|
NM_000548.5(TSC2):c.1992T>C (p.Ser664=)
|
rs1459545137
|
|
NM_000548.5(TSC2):c.1998C>T (p.Pro666=)
|
rs1474891284
|
|
NM_000548.5(TSC2):c.2001A>G (p.Thr667=)
|
rs1412129753
|
|
NM_000548.5(TSC2):c.2001A>T (p.Thr667=)
|
rs1412129753
|
|
NM_000548.5(TSC2):c.2004G>A (p.Gly668=)
|
|
|
NM_000548.5(TSC2):c.2007T>C (p.Pro669=)
|
rs2151305733
|
|
NM_000548.5(TSC2):c.2013C>T (p.Gly671=)
|
rs566848799
|
|
NM_000548.5(TSC2):c.2016G>C (p.Pro672=)
|
rs774517903
|
|
NM_000548.5(TSC2):c.2019G>C (p.Ala673=)
|
|
|
NM_000548.5(TSC2):c.2019G>T (p.Ala673=)
|
rs772993105
|
|
NM_000548.5(TSC2):c.201C>A (p.Val67=)
|
rs45460096
|
|
NM_000548.5(TSC2):c.201C>G (p.Val67=)
|
rs45460096
|
|
NM_000548.5(TSC2):c.2025A>G (p.Ala675=)
|
rs766113544
|
|
NM_000548.5(TSC2):c.2031C>G (p.Pro677=)
|
rs45517208
|
|
NM_000548.5(TSC2):c.2034C>A (p.Ala678=)
|
|
|
NM_000548.5(TSC2):c.2034C>G (p.Ala678=)
|
rs781740263
|
|
NM_000548.5(TSC2):c.2037G>A (p.Val679=)
|
|
|
NM_000548.5(TSC2):c.2037G>T (p.Val679=)
|
|
|
NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu)
|
rs756536921
|
|
NM_000548.5(TSC2):c.2040G>A (p.Arg680=)
|
|
|
NM_000548.5(TSC2):c.2040G>T (p.Arg680=)
|
rs1596344740
|
|
NM_000548.5(TSC2):c.2041C>T (p.Leu681=)
|
|
|
NM_000548.5(TSC2):c.2046G>T (p.Gly682=)
|
rs749536123
|
|
NM_000548.5(TSC2):c.2049C>G (p.Ser683=)
|
rs569518378
|
|
NM_000548.5(TSC2):c.2055C>T (p.Pro685=)
|
|
|
NM_000548.5(TSC2):c.2061C>A (p.Ser687=)
|
rs1596344926
|
|
NM_000548.5(TSC2):c.2061C>G (p.Ser687=)
|
|
|
NM_000548.5(TSC2):c.2062C>T (p.Leu688=)
|
rs1479736808
|
|
NM_000548.5(TSC2):c.2064G>C (p.Leu688=)
|
rs1202311439
|
|
NM_000548.5(TSC2):c.2067C>G (p.Leu689=)
|
|
|
NM_000548.5(TSC2):c.2067C>T (p.Leu689=)
|
rs1060504107
|
|
NM_000548.5(TSC2):c.2073C>A (p.Arg691=)
|
rs45512398
|
|
NM_000548.5(TSC2):c.2076C>T (p.Val692=)
|
rs2151308324
|
|
NM_000548.5(TSC2):c.2079G>A (p.Leu693=)
|
rs764932531
|
|
NM_000548.5(TSC2):c.2082G>A (p.Leu694=)
|
rs45458592
|
|
NM_000548.5(TSC2):c.2088C>T (p.Cys696=)
|
|
|
NM_000548.5(TSC2):c.2089T>C (p.Leu697=)
|
rs1596345177
|
|
NM_000548.5(TSC2):c.2097+10G>A
|
rs1596345324
|
|
NM_000548.5(TSC2):c.2097+12C>T
|
rs137854029
|
|
NM_000548.5(TSC2):c.2097+12_2097+16dup
|
|
|
NM_000548.5(TSC2):c.2097+13G>T
|
rs367915255
|
|
NM_000548.5(TSC2):c.2097+14G>C
|
|
|
NM_000548.5(TSC2):c.2097+15G>A
|
|
|
NM_000548.5(TSC2):c.2097+16C>T
|
rs2151309631
|
|
NM_000548.5(TSC2):c.2097+17A>G
|
|
|
NM_000548.5(TSC2):c.2097+18G>A
|
rs2151309700
|
|
NM_000548.5(TSC2):c.2097+19G>A
|
|
|
NM_000548.5(TSC2):c.2097+20G>T
|
rs750948161
|
|
NM_000548.5(TSC2):c.2097+9G>A
|
rs1350920103
|
|
NM_000548.5(TSC2):c.2098-10C>G
|
rs754375630
|
|
NM_000548.5(TSC2):c.2098-10C>T
|
rs754375630
|
|
NM_000548.5(TSC2):c.2098-12del
|
rs1567466752
|
|
NM_000548.5(TSC2):c.2098-14T>G
|
|
|
NM_000548.5(TSC2):c.2098-15C>G
|
|
|
NM_000548.5(TSC2):c.2098-15C>T
|
|
|
NM_000548.5(TSC2):c.2098-16C>T
|
rs764694797
|
|
NM_000548.5(TSC2):c.2098-17G>A
|
rs759006353
|
|
NM_000548.5(TSC2):c.2098-17G>T
|
|
|
NM_000548.5(TSC2):c.2098-3dup
|
|
|
NM_000548.5(TSC2):c.2098-4G>A
|
rs1306044216
|
|
NM_000548.5(TSC2):c.2098-5C>G
|
rs369072310
|
|
NM_000548.5(TSC2):c.2098-5C>T
|
rs369072310
|
|
NM_000548.5(TSC2):c.2098-6T>C
|
rs1057523252
|
|
NM_000548.5(TSC2):c.2098-8C>G
|
rs1468788322
|
|
NM_000548.5(TSC2):c.2098-8C>T
|
rs1468788322
|
|
NM_000548.5(TSC2):c.210C>G (p.Thr70=)
|
rs2084966494
|
|
NM_000548.5(TSC2):c.2112G>A (p.Lys704=)
|
rs1555506423
|
|
NM_000548.5(TSC2):c.2118G>A (p.Leu706=)
|
rs1596347135
|
|
NM_000548.5(TSC2):c.2121G>A (p.Lys707=)
|
rs2151316314
|
|
NM_000548.5(TSC2):c.2124G>C (p.Leu708=)
|
rs1596347174
|
|
NM_000548.5(TSC2):c.2130G>A (p.Leu710=)
|
rs747122485
|
|
NM_000548.5(TSC2):c.2133C>T (p.Gly711=)
|
rs1060500915
|
|
NM_000548.5(TSC2):c.2136G>A (p.Arg712=)
|
rs995073369
|
|
NM_000548.5(TSC2):c.2137C>T (p.Leu713=)
|
rs1555506453
|
|
NM_000548.5(TSC2):c.2139G>C (p.Leu713=)
|
rs757293747
|
|
NM_000548.5(TSC2):c.2139G>T (p.Leu713=)
|
rs757293747
|
|
NM_000548.5(TSC2):c.213G>A (p.Lys71=)
|
rs766200310
|
|
NM_000548.5(TSC2):c.2142T>C (p.Pro714=)
|
|
|
NM_000548.5(TSC2):c.2142T>G (p.Pro714=)
|
|
|
NM_000548.5(TSC2):c.2145G>A (p.Glu715=)
|
rs1596347274
|
|
NM_000548.5(TSC2):c.2151G>A (p.Leu717=)
|
|
|
NM_000548.5(TSC2):c.2152C>T (p.Arg718Cys)
|
rs182538665
|
|
NM_000548.5(TSC2):c.2153G>A (p.Arg718His)
|
rs45517215
|
|
NM_000548.5(TSC2):c.2154C>A (p.Arg718=)
|
rs878854081
|
|
NM_000548.5(TSC2):c.2154C>G (p.Arg718=)
|
rs878854081
|
|
NM_000548.5(TSC2):c.2154C>T (p.Arg718=)
|
rs878854081
|
|
NM_000548.5(TSC2):c.216A>G (p.Lys72=)
|
rs1201047547
|
|
NM_000548.5(TSC2):c.2172T>C (p.Phe724=)
|
rs2151318241
|
|
NM_000548.5(TSC2):c.2175T>G (p.Thr725=)
|
|
|
NM_000548.5(TSC2):c.2178C>G (p.Ser726=)
|
rs1380835459
|
|
NM_000548.5(TSC2):c.2178C>T (p.Ser726=)
|
rs1380835459
|
|
NM_000548.5(TSC2):c.2184C>T (p.Cys728=)
|
rs1555506557
|
|
NM_000548.5(TSC2):c.2187T>C (p.Ser729=)
|
|
|
NM_000548.5(TSC2):c.2190G>C (p.Val730=)
|
|
|
NM_000548.5(TSC2):c.2193C>T (p.Asp731=)
|
rs760053529
|
|
NM_000548.5(TSC2):c.2197C>T (p.Leu733=)
|
rs397515163
|
|
NM_000548.5(TSC2):c.2205T>A (p.Ser735=)
|
rs758782629
|
|
NM_000548.5(TSC2):c.2209C>G (p.Leu737Val)
|
rs1485034650
|
|
NM_000548.5(TSC2):c.2211C>A (p.Leu737=)
|
rs369851248
|
|
NM_000548.5(TSC2):c.2217C>T (p.Ser739=)
|
rs1596347651
|
|
NM_000548.5(TSC2):c.2220+10C>T
|
|
|
NM_000548.5(TSC2):c.2220+12G>C
|
rs780039835
|
|
NM_000548.5(TSC2):c.2220+12G>T
|
rs780039835
|
|
NM_000548.5(TSC2):c.2220+14C>A
|
|
|
NM_000548.5(TSC2):c.2220+17G>C
|
rs768477166
|
|
NM_000548.5(TSC2):c.2220+17G>T
|
|
|
NM_000548.5(TSC2):c.2220+18G>C
|
|
|
NM_000548.5(TSC2):c.2220+7T>C
|
rs1431356866
|
|
NM_000548.5(TSC2):c.2220+8G>T
|
|
|
NM_000548.5(TSC2):c.2220+9G>A
|
|
|
NM_000548.5(TSC2):c.2221-10dup
|
rs2151325861
|
|
NM_000548.5(TSC2):c.2221-13A>G
|
rs2151325840
|
|
NM_000548.5(TSC2):c.2221-14G>T
|
|
|
NM_000548.5(TSC2):c.2221-15G>A
|
|
|
NM_000548.5(TSC2):c.2221-16T>C
|
rs956986385
|
|
NM_000548.5(TSC2):c.2221-19G>T
|
|
|
NM_000548.5(TSC2):c.2221-20T>A
|
|
|
NM_000548.5(TSC2):c.2221-20T>C
|
rs2088678037
|
|
NM_000548.5(TSC2):c.2221-20T>G
|
|
|
NM_000548.5(TSC2):c.2221-5A>G
|
rs1555506829
|
|
NM_000548.5(TSC2):c.2221-6C>T
|
rs1555506823
|
|
NM_000548.5(TSC2):c.2221-8G>A
|
rs768919244
|
|
NM_000548.5(TSC2):c.2221-9G>T
|
|
|
NM_000548.5(TSC2):c.2226A>G (p.Ser742=)
|
rs1060504097
|
|
NM_000548.5(TSC2):c.2229C>T (p.Gly743=)
|
rs1322227597
|
|
NM_000548.5(TSC2):c.222A>G (p.Glu74=)
|
rs2150997246
|
|
NM_000548.5(TSC2):c.2232A>C (p.Pro744=)
|
rs1259596608
|
|
NM_000548.5(TSC2):c.2235G>A (p.Lys745=)
|
rs762162898
|
|
NM_000548.5(TSC2):c.2238A>C (p.Thr746=)
|
rs1060504115
|
|
NM_000548.5(TSC2):c.2242G>A (p.Glu748Lys)
|
rs1442440961
|
|
NM_000548.5(TSC2):c.2247G>C (p.Arg749=)
|
|
|
NM_000548.5(TSC2):c.2247G>T (p.Arg749=)
|
rs753723736
|
|
NM_000548.5(TSC2):c.225+10T>A
|
rs2150997561
|
|
NM_000548.5(TSC2):c.225+12C>T
|
rs886038352
|
|
NM_000548.5(TSC2):c.225+14G>A
|
|
|
NM_000548.5(TSC2):c.225+14G>T
|
|
|
NM_000548.5(TSC2):c.225+16T>A
|
rs2150997719
|
|
NM_000548.5(TSC2):c.225+16T>C
|
|
|
NM_000548.5(TSC2):c.225+18A>G
|
|
|
NM_000548.5(TSC2):c.225+19G>A
|
rs980875984
|
|
NM_000548.5(TSC2):c.225+19G>C
|
rs980875984
|
|
NM_000548.5(TSC2):c.225+20C>G
|
rs747834120
|
|
NM_000548.5(TSC2):c.225+20C>T
|
|
|
NM_000548.5(TSC2):c.225+3A>G
|
rs1060500963
|
|
NM_000548.5(TSC2):c.225+3A>T
|
|
|
NM_000548.5(TSC2):c.225+7T>C
|
rs1596246066
|
|
NM_000548.5(TSC2):c.2256C>A (p.Gly752=)
|
rs778981034
|
|
NM_000548.5(TSC2):c.2259C>T (p.Ala753=)
|
|
|
NM_000548.5(TSC2):c.226-11G>A
|
|
|
NM_000548.5(TSC2):c.226-14T>A
|
|
|
NM_000548.5(TSC2):c.226-16C>T
|
|
|
NM_000548.5(TSC2):c.226-17C>T
|
rs1356531469
|
|
NM_000548.5(TSC2):c.226-18C>A
|
|
|
NM_000548.5(TSC2):c.226-18C>T
|
rs2151025462
|
|
NM_000548.5(TSC2):c.226-19T>G
|
rs938983644
|
|
NM_000548.5(TSC2):c.226-20G>A
|
rs753647216
|
|
NM_000548.5(TSC2):c.226-5G>A
|
rs1596258779
|
|
NM_000548.5(TSC2):c.226-5G>C
|
rs1596258779
|
|
NM_000548.5(TSC2):c.226-7G>C
|
rs1555496912
|
|
NM_000548.5(TSC2):c.226-9T>C
|
|
|
NM_000548.5(TSC2):c.2262A>G (p.Pro754=)
|
rs2088691180
|
|
NM_000548.5(TSC2):c.2268C>A (p.Gly756=)
|
rs2151327216
|
|
NM_000548.5(TSC2):c.2271C>T (p.Phe757=)
|
rs1555506918
|
|
NM_000548.5(TSC2):c.2274C>T (p.Ser758=)
|
rs2151327344
|
|
NM_000548.5(TSC2):c.2280T>C (p.Thr760=)
|
rs2088693411
|
|
NM_000548.5(TSC2):c.2283C>T (p.Asp761=)
|
rs2088693660
|
|
NM_000548.5(TSC2):c.2284T>C (p.Leu762=)
|
rs1249640615
|
|
NM_000548.5(TSC2):c.2286G>A (p.Leu762=)
|
|
|
NM_000548.5(TSC2):c.2290C>T (p.Leu764=)
|
rs777614710
|
|
NM_000548.5(TSC2):c.2292G>C (p.Leu764=)
|
|
|
NM_000548.5(TSC2):c.2295C>G (p.Ala765=)
|
rs45509500
|
|
NM_000548.5(TSC2):c.2301T>A (p.Val767=)
|
rs531724951
|
|
NM_000548.5(TSC2):c.2301T>C (p.Val767=)
|
|
|
NM_000548.5(TSC2):c.2301T>G (p.Val767=)
|
rs531724951
|
|
NM_000548.5(TSC2):c.2304A>G (p.Pro768=)
|
|
|
NM_000548.5(TSC2):c.2310G>A (p.Leu770=)
|
|
|
NM_000548.5(TSC2):c.2313A>T (p.Thr771=)
|
rs876658215
|
|
NM_000548.5(TSC2):c.2316A>C (p.Ala772=)
|
rs2088700038
|
|
NM_000548.5(TSC2):c.2316A>G (p.Ala772=)
|
|
|
NM_000548.5(TSC2):c.2319A>G (p.Leu773=)
|
rs1359991984
|
|
NM_000548.5(TSC2):c.231A>C (p.Ala77=)
|
rs2151026046
|
|
NM_000548.5(TSC2):c.231A>G (p.Ala77=)
|
rs2151026046
|
|
NM_000548.5(TSC2):c.2325T>C (p.Ser775=)
|
|
|
NM_000548.5(TSC2):c.2328C>T (p.Tyr776=)
|
rs45517225
|
|
NM_000548.5(TSC2):c.2338C>T (p.Leu780=)
|
rs1555507017
|
|
NM_000548.5(TSC2):c.2340G>A (p.Leu780=)
|
|
|
NM_000548.5(TSC2):c.2352A>G (p.Lys784=)
|
rs1596350666
|
|
NM_000548.5(TSC2):c.2355+12G>A
|
|
|
NM_000548.5(TSC2):c.2355+12G>C
|
rs745425504
|
|
NM_000548.5(TSC2):c.2355+14G>T
|
|
|
NM_000548.5(TSC2):c.2355+15C>G
|
|
|
NM_000548.5(TSC2):c.2355+15C>T
|
|
|
NM_000548.5(TSC2):c.2355+16A>C
|
|
|
NM_000548.5(TSC2):c.2355+17G>A
|
rs896658517
|
|
NM_000548.5(TSC2):c.2355+19A>G
|
|
|
NM_000548.5(TSC2):c.2355+19A>T
|
|
|
NM_000548.5(TSC2):c.2355+20C>G
|
|
|
NM_000548.5(TSC2):c.2355+7G>A
|
rs999583473
|
|
NM_000548.5(TSC2):c.2356-11G>C
|
|
|
NM_000548.5(TSC2):c.2356-11G>T
|
|
|
NM_000548.5(TSC2):c.2356-12T>C
|
rs1388493955
|
|
NM_000548.5(TSC2):c.2356-13C>T
|
rs1388447580
|
|
NM_000548.5(TSC2):c.2356-14C>G
|
|
|
NM_000548.5(TSC2):c.2356-14C>T
|
|
|
NM_000548.5(TSC2):c.2356-15del
|
|
|
NM_000548.5(TSC2):c.2356-16G>A
|
|
|
NM_000548.5(TSC2):c.2356-16G>T
|
|
|
NM_000548.5(TSC2):c.2356-17T>C
|
|
|
NM_000548.5(TSC2):c.2356-17T>G
|
|
|
NM_000548.5(TSC2):c.2356-18dup
|
rs2151345840
|
|
NM_000548.5(TSC2):c.2356-19G>T
|
|
|
NM_000548.5(TSC2):c.2356-20A>G
|
|
|
NM_000548.5(TSC2):c.2356-5T>G
|
rs796053488
|
|
NM_000548.5(TSC2):c.2356-6C>G
|
rs2151346147
|
|
NM_000548.5(TSC2):c.2356-6C>T
|
rs2151346147
|
|
NM_000548.5(TSC2):c.2356-7C>A
|
|
|
NM_000548.5(TSC2):c.2356-7C>T
|
rs2151346130
|
|
NM_000548.5(TSC2):c.2356-8dup
|
|
|
NM_000548.5(TSC2):c.2356-9C>G
|
rs1334725181
|
|
NM_000548.5(TSC2):c.2356-9_2356-3dup
|
rs2151346107
|
|
NM_000548.5(TSC2):c.2358C>A (p.Arg786=)
|
rs372834284
|
|
NM_000548.5(TSC2):c.2358C>G (p.Arg786=)
|
rs372834284
|
|
NM_000548.5(TSC2):c.2367C>G (p.Val789=)
|
rs1596356163
|
|
NM_000548.5(TSC2):c.2367C>T (p.Val789=)
|
rs1596356163
|
|
NM_000548.5(TSC2):c.2370C>T (p.Tyr790=)
|
rs45517232
|
|
NM_000548.5(TSC2):c.2382G>A (p.Gln794=)
|
rs778138047
|
|
NM_000548.5(TSC2):c.2385C>T (p.Gly795=)
|
|
|
NM_000548.5(TSC2):c.2388C>A (p.Leu796=)
|
rs2151348171
|
|
NM_000548.5(TSC2):c.2388C>T (p.Leu796=)
|
|
|
NM_000548.5(TSC2):c.2391C>T (p.Ile797=)
|
|
|
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.2415C>A (p.Val805=)
|
|
|
NM_000548.5(TSC2):c.2418G>A (p.Val806=)
|
rs2151349705
|
|
NM_000548.5(TSC2):c.2421C>T (p.Ala807=)
|
rs1060504089
|
|
NM_000548.5(TSC2):c.2422T>C (p.Leu808=)
|
|
|
NM_000548.5(TSC2):c.2433C>T (p.Cys811=)
|
rs1596356520
|
|
NM_000548.5(TSC2):c.243C>G (p.Leu81=)
|
rs751068235
|
|
NM_000548.5(TSC2):c.243C>T (p.Leu81=)
|
|
|
NM_000548.5(TSC2):c.2460C>T (p.Ile820=)
|
rs2151352359
|
|
NM_000548.5(TSC2):c.2466G>C (p.Ala822=)
|
|
|
NM_000548.5(TSC2):c.2469G>A (p.Leu823=)
|
rs2151352856
|
|
NM_000548.5(TSC2):c.2469G>C (p.Leu823=)
|
|
|
NM_000548.5(TSC2):c.2472T>C (p.Pro824=)
|
rs1596356689
|
|
NM_000548.5(TSC2):c.2475T>C (p.Val825=)
|
|
|
NM_000548.5(TSC2):c.2475T>G (p.Val825=)
|
|
|
NM_000548.5(TSC2):c.2476C>T (p.Leu826=)
|
rs45517238
|
|
NM_000548.5(TSC2):c.2478G>C (p.Leu826=)
|
rs1398112464
|
|
NM_000548.5(TSC2):c.2490C>T (p.Leu830=)
|
rs768573698
|
|
NM_000548.5(TSC2):c.2493G>A (p.Thr831=)
|
rs773645613
|
|
NM_000548.5(TSC2):c.2493G>T (p.Thr831=)
|
rs773645613
|
|
NM_000548.5(TSC2):c.2499C>T (p.Ile833=)
|
|
|
NM_000548.5(TSC2):c.249G>A (p.Lys83=)
|
rs1202653675
|
|
NM_000548.5(TSC2):c.2502A>G (p.Ser834=)
|
rs2151354707
|
|
NM_000548.5(TSC2):c.2502A>T (p.Ser834=)
|
|
|
NM_000548.5(TSC2):c.2505C>T (p.Ala835=)
|
rs1200802987
|
|
NM_000548.5(TSC2):c.2508A>T (p.Thr836=)
|
rs137854242
|
|
NM_000548.5(TSC2):c.2520C>G (p.Ala840=)
|
rs147683438
|
|
NM_000548.5(TSC2):c.2523C>A (p.Val841=)
|
rs1364740785
|
|
NM_000548.5(TSC2):c.2523C>G (p.Val841=)
|
rs1364740785
|
|
NM_000548.5(TSC2):c.2527C>T (p.Leu843=)
|
rs2151355813
|
|
NM_000548.5(TSC2):c.2529G>C (p.Leu843=)
|
rs759108698
|
|
NM_000548.5(TSC2):c.252G>C (p.Ala84=)
|
|
|
NM_000548.5(TSC2):c.2530C>T (p.Leu844=)
|
rs1596357053
|
|
NM_000548.5(TSC2):c.2538C>T (p.Phe846=)
|
rs1360361868
|
|
NM_000548.5(TSC2):c.2545+10C>G
|
|
|
NM_000548.5(TSC2):c.2545+11G>A
|
rs768787639
|
|
NM_000548.5(TSC2):c.2545+12C>T
|
|
|
NM_000548.5(TSC2):c.2545+13C>T
|
rs905699423
|
|
NM_000548.5(TSC2):c.2545+14C>G
|
|
|
NM_000548.5(TSC2):c.2545+14C>T
|
|
|
NM_000548.5(TSC2):c.2545+16G>A
|
|
|
NM_000548.5(TSC2):c.2545+16G>C
|
|
|
NM_000548.5(TSC2):c.2545+17C>A
|
rs748247724
|
|
NM_000548.5(TSC2):c.2545+18C>T
|
rs771970930
|
|
NM_000548.5(TSC2):c.2545+19T>C
|
rs773100764
|
|
NM_000548.5(TSC2):c.2545+20G>C
|
rs1490177129
|
|
NM_000548.5(TSC2):c.2545+7C>T
|
rs1193769778
|
|
NM_000548.5(TSC2):c.2545+8C>T
|
|
|
NM_000548.5(TSC2):c.2545+9C>T
|
rs369385105
|
|
NM_000548.5(TSC2):c.2546-12C>G
|
|
|
NM_000548.5(TSC2):c.2546-13dup
|
rs2151379450
|
|
NM_000548.5(TSC2):c.2546-14C>G
|
rs2151379427
|
|
NM_000548.5(TSC2):c.2546-14C>T
|
|
|
NM_000548.5(TSC2):c.2546-15T>A
|
|
|
NM_000548.5(TSC2):c.2546-15T>C
|
rs371256839
|
|
NM_000548.5(TSC2):c.2546-15T>G
|
rs371256839
|
|
NM_000548.5(TSC2):c.2546-15_2546-14insGT
|
|
|
NM_000548.5(TSC2):c.2546-16C>T
|
|
|
NM_000548.5(TSC2):c.2546-16CT[3]
|
|
|
NM_000548.5(TSC2):c.2546-17C>A
|
rs1216321428
|
|
NM_000548.5(TSC2):c.2546-17_2546-16dup
|
rs779157020
|
|
NM_000548.5(TSC2):c.2546-19A>G
|
|
|
NM_000548.5(TSC2):c.2546-19_2546-18insGGGTA
|
|
|
NM_000548.5(TSC2):c.2546-19dup
|
|
|
NM_000548.5(TSC2):c.2546-20_2546-19insGCAGCTCCATTACCCTCTCCATT
|
|
|
NM_000548.5(TSC2):c.2547T>C (p.Thr849=)
|
rs1596364841
|
|
NM_000548.5(TSC2):c.2550G>A (p.Leu850=)
|
rs781100484
|
|
NM_000548.5(TSC2):c.2556G>A (p.Arg852=)
|
|
|
NM_000548.5(TSC2):c.2557C>T (p.Leu853=)
|
|
|
NM_000548.5(TSC2):c.2559G>C (p.Leu853=)
|
rs149169643
|
|
NM_000548.5(TSC2):c.2559G>T (p.Leu853=)
|
rs149169643
|
|
NM_000548.5(TSC2):c.2562G>C (p.Pro854=)
|
rs779606786
|
|
NM_000548.5(TSC2):c.2568C>T (p.Leu856=)
|
|
|
NM_000548.5(TSC2):c.2570A>G (p.Tyr857Cys)
|
rs878854084
|
|
NM_000548.5(TSC2):c.2576A>C (p.Asn859Thr)
|
rs878854085
|
|
NM_000548.5(TSC2):c.2577C>T (p.Asn859=)
|
rs1555508337
|
|
NM_000548.5(TSC2):c.2586G>C (p.Ala862=)
|
|
|
NM_000548.5(TSC2):c.2589G>A (p.Glu863=)
|
rs1596365136
|
|
NM_000548.5(TSC2):c.258G>C (p.Ala86=)
|
rs397514912
|
|
NM_000548.5(TSC2):c.2592G>A (p.Gln864=)
|
rs763099064
|
|
NM_000548.5(TSC2):c.2598C>A (p.Ala866=)
|
rs1395372159
|
|
NM_000548.5(TSC2):c.2613C>T (p.Ile871=)
|
rs1555508408
|
|
NM_000548.5(TSC2):c.2616C>A (p.Ser872=)
|
|
|
NM_000548.5(TSC2):c.2617C>T (p.Leu873=)
|
rs1555508418
|
|
NM_000548.5(TSC2):c.2619G>A (p.Leu873=)
|
|
|
NM_000548.5(TSC2):c.2619G>C (p.Leu873=)
|
|
|
NM_000548.5(TSC2):c.261T>C (p.Asp87=)
|
rs1555496967
|
|
NM_000548.5(TSC2):c.2628C>A (p.Thr876=)
|
|
|
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)
|
rs397515077
|
|
NM_000548.5(TSC2):c.2634C>T (p.Pro878=)
|
|
|
NM_000548.5(TSC2):c.2637C>T (p.Ser879=)
|
rs1596365444
|
|
NM_000548.5(TSC2):c.2639+10C>A
|
rs137854378
|
|
NM_000548.5(TSC2):c.2639+11G>C
|
|
|
NM_000548.5(TSC2):c.2639+12C>T
|
rs1400051232
|
|
NM_000548.5(TSC2):c.2639+14C>G
|
rs1057520927
|
|
NM_000548.5(TSC2):c.2639+15C>G
|
rs397515299
|
|
NM_000548.5(TSC2):c.2639+16A>C
|
|
|
NM_000548.5(TSC2):c.2639+16A>G
|
|
|
NM_000548.5(TSC2):c.2639+18G>A
|
|
|
NM_000548.5(TSC2):c.2639+19C>G
|
|
|
NM_000548.5(TSC2):c.2639+19C>T
|
rs2151382809
|
|
NM_000548.5(TSC2):c.2639+20C>A
|
rs764337376
|
|
NM_000548.5(TSC2):c.2639+20C>G
|
|
|
NM_000548.5(TSC2):c.2639+21dup
|
rs2151382834
|
|
NM_000548.5(TSC2):c.2639+7G>A
|
|
|
NM_000548.5(TSC2):c.2639+8G>A
|
rs777033931
|
|
NM_000548.5(TSC2):c.2639+8G>C
|
rs777033931
|
|
NM_000548.5(TSC2):c.2640-12T>G
|
|
|
NM_000548.5(TSC2):c.2640-14C>G
|
rs2089304828
|
|
NM_000548.5(TSC2):c.2640-14C>T
|
rs2089304828
|
|
NM_000548.5(TSC2):c.2640-15C>G
|
rs1011282445
|
|
NM_000548.5(TSC2):c.2640-16C>A
|
|
|
NM_000548.5(TSC2):c.2640-17C>T
|
|
|
NM_000548.5(TSC2):c.2640-20_2640-19insT
|
|
|
NM_000548.5(TSC2):c.2640-4T>C
|
rs1596366489
|
|
NM_000548.5(TSC2):c.2640-5C>G
|
rs753781434
|
|
NM_000548.5(TSC2):c.2640-5C>T
|
rs753781434
|
|
NM_000548.5(TSC2):c.2640-7A>C
|
rs1555508569
|
|
NM_000548.5(TSC2):c.2640-7A>G
|
rs1555508569
|
|
NM_000548.5(TSC2):c.2640-7A>T
|
rs1555508569
|
|
NM_000548.5(TSC2):c.2640-8C>T
|
rs766389789
|
|
NM_000548.5(TSC2):c.2649G>A (p.Gln883=)
|
|
|
NM_000548.5(TSC2):c.264G>A (p.Leu88=)
|
rs1466279830
|
|
NM_000548.5(TSC2):c.264G>C (p.Leu88=)
|
|
|
NM_000548.5(TSC2):c.264G>T (p.Leu88=)
|
|
|
NM_000548.5(TSC2):c.2651A>G (p.Tyr884Cys)
|
rs754849580
|
|
NM_000548.5(TSC2):c.2652C>T (p.Tyr884=)
|
rs45489200
|
|
NM_000548.5(TSC2):c.2655C>A (p.Ile885=)
|
rs1060504116
|
|
NM_000548.5(TSC2):c.2656G>A (p.Val886Met)
|
rs999523698
|
|
NM_000548.5(TSC2):c.2658G>A (p.Val886=)
|
rs1035837417
|
|
NM_000548.5(TSC2):c.2667C>T (p.Ala889=)
|
rs774740459
|
|
NM_000548.5(TSC2):c.2680G>C (p.Ala894Pro)
|
rs1379507306
|
|
NM_000548.5(TSC2):c.2682C>T (p.Ala894=)
|
rs45517253
|
|
NM_000548.5(TSC2):c.2695A>C (p.Arg899=)
|
rs2089322279
|
|
NM_000548.5(TSC2):c.2702G>T (p.Arg901Leu)
|
rs1273957629
|
|
NM_000548.5(TSC2):c.2703C>T (p.Arg901=)
|
|
|
NM_000548.5(TSC2):c.2704C>T (p.Leu902=)
|
rs756696525
|
|
NM_000548.5(TSC2):c.2706G>A (p.Leu902=)
|
rs2151388216
|
|
NM_000548.5(TSC2):c.2709C>A (p.Pro903=)
|
rs780558633
|
|
NM_000548.5(TSC2):c.2709C>T (p.Pro903=)
|
rs780558633
|
|
NM_000548.5(TSC2):c.2712C>T (p.Phe904=)
|
rs137920189
|
|
NM_000548.5(TSC2):c.2727C>G (p.Val909=)
|
rs2151388902
|
|
NM_000548.5(TSC2):c.2727C>T (p.Val909=)
|
rs2151388902
|
|
NM_000548.5(TSC2):c.2733C>T (p.Phe911=)
|
rs1596367012
|
|
NM_000548.5(TSC2):c.2739T>C (p.Thr913=)
|
rs773285889
|
|
NM_000548.5(TSC2):c.273G>T (p.Pro91=)
|
rs772296140
|
|
NM_000548.5(TSC2):c.2742+10G>A
|
rs2151389563
|
|
NM_000548.5(TSC2):c.2742+11G>A
|
rs1256570311
|
|
NM_000548.5(TSC2):c.2742+12G>A
|
rs2089335458
|
|
NM_000548.5(TSC2):c.2742+16G>A
|
|
|
NM_000548.5(TSC2):c.2742+16G>T
|
|
|
NM_000548.5(TSC2):c.2742+20A>C
|
rs1057521395
|
|
NM_000548.5(TSC2):c.2742+4G>T
|
rs587781683
|
|
NM_000548.5(TSC2):c.2742+7T>C
|
rs2151389494
|
|
NM_000548.5(TSC2):c.2742+8C>G
|
rs1596367157
|
|
NM_000548.5(TSC2):c.2742+8C>T
|
rs1596367157
|
|
NM_000548.5(TSC2):c.2743-10A>C
|
|
|
NM_000548.5(TSC2):c.2743-10A>G
|
rs1060504094
|
|
NM_000548.5(TSC2):c.2743-11C>A
|
|
|
NM_000548.5(TSC2):c.2743-11C>G
|
rs137854426
|
|
NM_000548.5(TSC2):c.2743-13C>G
|
rs2089396453
|
|
NM_000548.5(TSC2):c.2743-13C>T
|
|
|
NM_000548.5(TSC2):c.2743-15T>C
|
rs2089396082
|
|
NM_000548.5(TSC2):c.2743-17_2743-10del
|
rs1555508844
|
|
NM_000548.5(TSC2):c.2743-18G>A
|
rs199539512
|
|
NM_000548.5(TSC2):c.2743-18G>T
|
rs199539512
|
|
NM_000548.5(TSC2):c.2743-19G>C
|
rs539121865
|
|
NM_000548.5(TSC2):c.2743-19G>T
|
|
|
NM_000548.5(TSC2):c.2743-20_2743-12del
|
|
|
NM_000548.5(TSC2):c.2743-21_2743-20del
|
|
|
NM_000548.5(TSC2):c.2743-3C>T
|
|
|
NM_000548.5(TSC2):c.2743-4C>A
|
rs1258692002
|
|
NM_000548.5(TSC2):c.2743-7C>A
|
|
|
NM_000548.5(TSC2):c.2743-7C>T
|
rs566118686
|
|
NM_000548.5(TSC2):c.2743-7_2743-6del
|
rs1208047924
|
|
NM_000548.5(TSC2):c.2743-8T>C
|
|
|
NM_000548.5(TSC2):c.2745C>T (p.Gly915=)
|
rs2151393775
|
|
NM_000548.5(TSC2):c.2746C>T (p.Leu916=)
|
rs137854274
|
|
NM_000548.5(TSC2):c.2751G>A (p.Arg917=)
|
rs1555508897
|
|
NM_000548.5(TSC2):c.2751G>T (p.Arg917=)
|
|
|
NM_000548.5(TSC2):c.2763C>A (p.Leu921=)
|
|
|
NM_000548.5(TSC2):c.2763C>G (p.Leu921=)
|
rs771817176
|
|
NM_000548.5(TSC2):c.2763C>T (p.Leu921=)
|
rs771817176
|
|
NM_000548.5(TSC2):c.276G>A (p.Glu92=)
|
rs1271369775
|
|
NM_000548.5(TSC2):c.2772T>C (p.Phe924=)
|
|
|
NM_000548.5(TSC2):c.2775T>C (p.Asp925=)
|
rs1596369419
|
|
NM_000548.5(TSC2):c.2781C>A (p.Thr927=)
|
rs376275903
|
|
NM_000548.5(TSC2):c.2784C>G (p.Pro928=)
|
rs45517267
|
|
NM_000548.5(TSC2):c.2787G>A (p.Glu929=)
|
rs968144525
|
|
NM_000548.5(TSC2):c.2788_2790delinsGAC (p.Lys930Asp)
|
rs1060500935
|
|
NM_000548.5(TSC2):c.2790G>A (p.Lys930=)
|
rs2151395271
|
|
NM_000548.5(TSC2):c.2793C>T (p.Asp931=)
|
rs2151395350
|
|
NM_000548.5(TSC2):c.2796C>T (p.Ser932=)
|
rs2151395410
|
|
NM_000548.5(TSC2):c.27A>C (p.Ser9=)
|
|
|
NM_000548.5(TSC2):c.27A>G (p.Ser9=)
|
rs1555494555
|
|
NM_000548.5(TSC2):c.2802G>A (p.Arg934=)
|
rs2151395548
|
|
NM_000548.5(TSC2):c.2805C>G (p.Ala935=)
|
rs2151395702
|
|
NM_000548.5(TSC2):c.2811T>C (p.Ser937=)
|
|
|
NM_000548.5(TSC2):c.2820C>G (p.Leu940=)
|
rs876659493
|
|
NM_000548.5(TSC2):c.2820C>T (p.Leu940=)
|
rs876659493
|
|
NM_000548.5(TSC2):c.282G>T (p.Pro94=)
|
rs145624233
|
|
NM_000548.5(TSC2):c.2832C>A (p.Pro944=)
|
rs2151396371
|
|
NM_000548.5(TSC2):c.2832C>G (p.Pro944=)
|
rs2151396371
|
|
NM_000548.5(TSC2):c.2832C>T (p.Pro944=)
|
rs2151396371
|
|
NM_000548.5(TSC2):c.2835G>A (p.Lys945=)
|
rs780292534
|
|
NM_000548.5(TSC2):c.2837+10G>T
|
rs1232454175
|
|
NM_000548.5(TSC2):c.2837+13G>C
|
rs2089421033
|
|
NM_000548.5(TSC2):c.2837+14G>A
|
|
|
NM_000548.5(TSC2):c.2837+14G>T
|
rs975343086
|
|
NM_000548.5(TSC2):c.2837+15G>A
|
|
|
NM_000548.5(TSC2):c.2837+15G>C
|
|
|
NM_000548.5(TSC2):c.2837+16G>C
|
|
|
NM_000548.5(TSC2):c.2837+16G>T
|
rs397515095
|
|
NM_000548.5(TSC2):c.2837+17T>C
|
|
|
NM_000548.5(TSC2):c.2837+18G>A
|
|
|
NM_000548.5(TSC2):c.2837+20G>A
|
|
|
NM_000548.5(TSC2):c.2837+20G>T
|
|
|
NM_000548.5(TSC2):c.2837+5G>A
|
rs786203791
|
|
NM_000548.5(TSC2):c.2837+7C>G
|
rs2089418654
|
|
NM_000548.5(TSC2):c.2837+8C>G
|
|
|
NM_000548.5(TSC2):c.2837+8C>T
|
rs1596369779
|
|
NM_000548.5(TSC2):c.2837+9T>C
|
rs912479360
|
|
NM_000548.5(TSC2):c.2837+9T>G
|
rs912479360
|
|
NM_000548.5(TSC2):c.2838-10C>T
|
rs1596374422
|
|
NM_000548.5(TSC2):c.2838-11T>C
|
rs2151412800
|
|
NM_000548.5(TSC2):c.2838-12C>T
|
|
|
NM_000548.5(TSC2):c.2838-13C>T
|
|
|
NM_000548.5(TSC2):c.2838-14T>G
|
|
|
NM_000548.5(TSC2):c.2838-16C>G
|
|
|
NM_000548.5(TSC2):c.2838-17C>G
|
|
|
NM_000548.5(TSC2):c.2838-17C>T
|
|
|
NM_000548.5(TSC2):c.2838-19C>T
|
|
|
NM_000548.5(TSC2):c.2838-20G>A
|
|
|
NM_000548.5(TSC2):c.2838-20G>T
|
rs2151412600
|
|
NM_000548.5(TSC2):c.2838-3T>C
|
rs553942147
|
|
NM_000548.5(TSC2):c.2838-5G>A
|
rs876660419
|
|
NM_000548.5(TSC2):c.2838-5G>C
|
rs876660419
|
|
NM_000548.5(TSC2):c.2838-6C>G
|
|
|
NM_000548.5(TSC2):c.2838-7C>A
|
rs752762518
|
|
NM_000548.5(TSC2):c.2838-7C>G
|
|
|
NM_000548.5(TSC2):c.2838-8C>A
|
rs1567490339
|
|
NM_000548.5(TSC2):c.2838-8C>T
|
rs1567490339
|
|
NM_000548.5(TSC2):c.2838-9A>T
|
|
|
NM_000548.5(TSC2):c.2839C>T (p.Leu947=)
|
rs2089574802
|
|
NM_000548.5(TSC2):c.283C>T (p.Leu95=)
|
|
|
NM_000548.5(TSC2):c.2842A>C (p.Arg948=)
|
rs770710202
|
|
NM_000548.5(TSC2):c.2850C>G (p.Ala950=)
|
rs2151413318
|
|
NM_000548.5(TSC2):c.2853A>G (p.Arg951=)
|
rs45517273
|
|
NM_000548.5(TSC2):c.2859C>A (p.Pro953=)
|
rs397514968
|
|
NM_000548.5(TSC2):c.2868C>G (p.Gly956=)
|
rs141573736
|
|
NM_000548.5(TSC2):c.2868C>T (p.Gly956=)
|
rs141573736
|
|
NM_000548.5(TSC2):c.2869T>C (p.Leu957=)
|
rs2151413863
|
|
NM_000548.5(TSC2):c.2871G>A (p.Leu957=)
|
|
|
NM_000548.5(TSC2):c.2877C>T (p.Asn959=)
|
rs147523833
|
|
NM_000548.5(TSC2):c.2883A>T (p.Pro961=)
|
rs1596374943
|
|
NM_000548.5(TSC2):c.2916C>G (p.Ala972=)
|
rs751474097
|
|
NM_000548.5(TSC2):c.2916C>T (p.Ala972=)
|
rs751474097
|
|
NM_000548.5(TSC2):c.2922C>G (p.Ala974=)
|
rs1555509505
|
|
NM_000548.5(TSC2):c.2922C>T (p.Ala974=)
|
rs1555509505
|
|
NM_000548.5(TSC2):c.2926C>A (p.Arg976=)
|
rs769527912
|
|
NM_000548.5(TSC2):c.2928G>A (p.Arg976=)
|
rs2151415832
|
|
NM_000548.5(TSC2):c.2931C>T (p.Cys977=)
|
rs2089593888
|
|
NM_000548.5(TSC2):c.2934C>T (p.Arg978=)
|
rs2089594737
|
|
NM_000548.5(TSC2):c.2940C>T (p.Ile980=)
|
rs2151416105
|
|
NM_000548.5(TSC2):c.2943T>C (p.Ser981=)
|
rs1596375342
|
|
NM_000548.5(TSC2):c.2946G>C (p.Val982=)
|
rs771332931
|
|
NM_000548.5(TSC2):c.2949T>C (p.Ser983=)
|
rs2151416372
|
|
NM_000548.5(TSC2):c.294G>A (p.Arg98=)
|
|
|
NM_000548.5(TSC2):c.294G>C (p.Arg98=)
|
rs2085370771
|
|
NM_000548.5(TSC2):c.2955T>C (p.His985=)
|
rs2151416490
|
|
NM_000548.5(TSC2):c.2958G>A (p.Val986=)
|
rs1114167464
|
|
NM_000548.5(TSC2):c.2961C>A (p.Val987=)
|
rs775637322
|
|
NM_000548.5(TSC2):c.2961C>T (p.Val987=)
|
rs775637322
|
|
NM_000548.5(TSC2):c.2964C>A (p.Arg988=)
|
rs757274577
|
|
NM_000548.5(TSC2):c.2966+10C>A
|
rs1596375636
|
|
NM_000548.5(TSC2):c.2966+10C>G
|
rs1596375636
|
|
NM_000548.5(TSC2):c.2966+10C>T
|
rs1596375636
|
|
NM_000548.5(TSC2):c.2966+11T>C
|
|
|
NM_000548.5(TSC2):c.2966+14C>A
|
rs377238278
|
|
NM_000548.5(TSC2):c.2966+14C>G
|
rs377238278
|
|
NM_000548.5(TSC2):c.2966+15G>A
|
rs779884344
|
|
NM_000548.5(TSC2):c.2966+17G>A
|
rs748886866
|
|
NM_000548.5(TSC2):c.2966+17G>C
|
|
|
NM_000548.5(TSC2):c.2966+18T>G
|
|
|
NM_000548.5(TSC2):c.2966+18_2966+21del
|
|
|
NM_000548.5(TSC2):c.2966+19G>A
|
rs377514748
|
|
NM_000548.5(TSC2):c.2966+19G>C
|
rs377514748
|
|
NM_000548.5(TSC2):c.2966+19_2966+20delinsTT
|
rs2151417108
|
|
NM_000548.5(TSC2):c.2966+20G>A
|
rs778545519
|
|
NM_000548.5(TSC2):c.2966+20G>C
|
rs778545519
|
|
NM_000548.5(TSC2):c.2966+20G>T
|
rs778545519
|
|
NM_000548.5(TSC2):c.2966+24del
|
rs1188094714
|
|
NM_000548.5(TSC2):c.2966+8G>C
|
rs750283532
|
|
NM_000548.5(TSC2):c.2966+9A>G
|
|
|
NM_000548.5(TSC2):c.2967-10C>G
|
rs1322718501
|
|
NM_000548.5(TSC2):c.2967-12C>T
|
rs2151429722
|
|
NM_000548.5(TSC2):c.2967-14G>C
|
|
|
NM_000548.5(TSC2):c.2967-18C>A
|
rs2151429604
|
|
NM_000548.5(TSC2):c.2967-3C>T
|
|
|
NM_000548.5(TSC2):c.2967-4C>G
|
|
|
NM_000548.5(TSC2):c.2967-4C>T
|
|
|
NM_000548.5(TSC2):c.2967-7C>T
|
|
|
NM_000548.5(TSC2):c.2967-8C>G
|
|
|
NM_000548.5(TSC2):c.2973A>C (p.Ile991=)
|
rs750003833
|
|
NM_000548.5(TSC2):c.2979G>T (p.Thr993=)
|
rs45517277
|
|
NM_000548.5(TSC2):c.2982C>A (p.Ser994=)
|
rs1555510188
|
|
NM_000548.5(TSC2):c.2982C>G (p.Ser994=)
|
rs1555510188
|
|
NM_000548.5(TSC2):c.2982C>T (p.Ser994=)
|
|
|
NM_000548.5(TSC2):c.2985C>T (p.Leu995=)
|
rs786203324
|
|
NM_000548.5(TSC2):c.2988C>T (p.Thr996=)
|
|
|
NM_000548.5(TSC2):c.2994C>A (p.Ala998=)
|
rs2151430926
|
|
NM_000548.5(TSC2):c.2994C>T (p.Ala998=)
|
|
|
NM_000548.5(TSC2):c.3000G>A (p.Leu1000=)
|
rs2151431126
|
|
NM_000548.5(TSC2):c.3002G>A (p.Gly1001Glu)
|
rs368878445
|
|
NM_000548.5(TSC2):c.3003G>A (p.Gly1001=)
|
rs768864105
|
|
NM_000548.5(TSC2):c.3003G>C (p.Gly1001=)
|
rs768864105
|
|
NM_000548.5(TSC2):c.3003G>T (p.Gly1001=)
|
rs768864105
|
|
NM_000548.5(TSC2):c.300G>T (p.Ala100=)
|
rs45517100
|
|
NM_000548.5(TSC2):c.3015G>A (p.Glu1005=)
|
rs2151431602
|
|
NM_000548.5(TSC2):c.3021C>G (p.Ser1007=)
|
|
|
NM_000548.5(TSC2):c.3024G>A (p.Val1008=)
|
|
|
NM_000548.5(TSC2):c.3027C>G (p.Ala1009=)
|
rs1320888448
|
|
NM_000548.5(TSC2):c.3027C>T (p.Ala1009=)
|
|
|
NM_000548.5(TSC2):c.3030G>A (p.Gln1010=)
|
rs776658284
|
|
NM_000548.5(TSC2):c.3033T>C (p.Ala1011=)
|
rs878854090
|
|
NM_000548.5(TSC2):c.3033T>G (p.Ala1011=)
|
|
|
NM_000548.5(TSC2):c.3037G>A (p.Asp1013Asn)
|
rs45517279
|
|
NM_000548.5(TSC2):c.303G>A (p.Val101=)
|
|
|
NM_000548.5(TSC2):c.3042C>T (p.Ser1014=)
|
|
|
NM_000548.5(TSC2):c.3048A>G (p.Lys1016=)
|
rs1555510299
|
|
NM_000548.5(TSC2):c.304C>T (p.Leu102=)
|
|
|
NM_000548.5(TSC2):c.3051C>T (p.Asn1017=)
|
rs752404221
|
|
NM_000548.5(TSC2):c.3054C>G (p.Leu1018=)
|
rs762570079
|
|
NM_000548.5(TSC2):c.3058C>T (p.Leu1020=)
|
rs574318440
|
|
NM_000548.5(TSC2):c.3060G>A (p.Leu1020=)
|
|
|
NM_000548.5(TSC2):c.3069G>C (p.Thr1023=)
|
|
|
NM_000548.5(TSC2):c.3069G>T (p.Thr1023=)
|
|
|
NM_000548.5(TSC2):c.3075C>G (p.Thr1025=)
|
|
|
NM_000548.5(TSC2):c.3075C>T (p.Thr1025=)
|
rs1596382606
|
|
NM_000548.5(TSC2):c.3079C>T (p.Leu1027=)
|
rs1596382637
|
|
NM_000548.5(TSC2):c.3081G>C (p.Leu1027=)
|
|
|
NM_000548.5(TSC2):c.3084C>T (p.Asp1028=)
|
rs1555510350
|
|
NM_000548.5(TSC2):c.30C>G (p.Gly10=)
|
rs876659726
|
|
NM_000548.5(TSC2):c.3102C>T (p.Val1034=)
|
rs562998574
|
|
NM_000548.5(TSC2):c.3105C>T (p.Phe1035=)
|
rs2151434410
|
|
NM_000548.5(TSC2):c.3108C>T (p.Ser1036=)
|
rs377575867
|
|
NM_000548.5(TSC2):c.310C>T (p.Leu104=)
|
rs1596259554
|
|
NM_000548.5(TSC2):c.3111C>T (p.Asn1037=)
|
rs1222753588
|
|
NM_000548.5(TSC2):c.3114C>T (p.Phe1038=)
|
rs1567497089
|
|
NM_000548.5(TSC2):c.3117G>C (p.Thr1039=)
|
rs747104674
|
|
NM_000548.5(TSC2):c.3117G>T (p.Thr1039=)
|
|
|
NM_000548.5(TSC2):c.3123C>T (p.Val1041=)
|
rs776710692
|
|
NM_000548.5(TSC2):c.3125C>A (p.Pro1042Gln)
|
|
|
NM_000548.5(TSC2):c.3125C>T (p.Pro1042Leu)
|
rs745731000
|
|
NM_000548.5(TSC2):c.3131+12A>C
|
|
|
NM_000548.5(TSC2):c.3131+13del
|
|
|
NM_000548.5(TSC2):c.3131+14T>A
|
|
|
NM_000548.5(TSC2):c.3131+16C>T
|
rs1298637729
|
|
NM_000548.5(TSC2):c.3131+17A>G
|
|
|
NM_000548.5(TSC2):c.3131+18G>C
|
rs2151435723
|
|
NM_000548.5(TSC2):c.3131+19G>C
|
rs754157205
|
|
NM_000548.5(TSC2):c.3131+3C>A
|
rs1420280878
|
|
NM_000548.5(TSC2):c.3131+4C>T
|
rs559015964
|
|
NM_000548.5(TSC2):c.3131+7G>A
|
rs1596383060
|
|
NM_000548.5(TSC2):c.3131+8C>A
|
rs763702215
|
|
NM_000548.5(TSC2):c.3132-11C>G
|
rs2089819486
|
|
NM_000548.5(TSC2):c.3132-12C>G
|
|
|
NM_000548.5(TSC2):c.3132-12C>T
|
|
|
NM_000548.5(TSC2):c.3132-13C>G
|
rs371948435
|
|
NM_000548.5(TSC2):c.3132-14T>A
|
rs2151436540
|
|
NM_000548.5(TSC2):c.3132-15C>G
|
rs769659537
|
|
NM_000548.5(TSC2):c.3132-15C>T
|
|
|
NM_000548.5(TSC2):c.3132-16G>T
|
|
|
NM_000548.5(TSC2):c.3132-18A>C
|
|
|
NM_000548.5(TSC2):c.3132-20T>C
|
|
|
NM_000548.5(TSC2):c.3132-3T>C
|
rs2089821106
|
|
NM_000548.5(TSC2):c.3132-4C>T
|
rs1228693719
|
|
NM_000548.5(TSC2):c.3132-9G>T
|
|
|
NM_000548.5(TSC2):c.313C>T (p.Leu105=)
|
|
|
NM_000548.5(TSC2):c.3141G>T (p.Val1047=)
|
rs1596383623
|
|
NM_000548.5(TSC2):c.3153C>A (p.Leu1051=)
|
rs1298892692
|
|
NM_000548.5(TSC2):c.3153C>G (p.Leu1051=)
|
rs1298892692
|
|
NM_000548.5(TSC2):c.3156A>G (p.Leu1052=)
|
rs1347619346
|
|
NM_000548.5(TSC2):c.3159G>T (p.Ala1053=)
|
|
|
NM_000548.5(TSC2):c.3162T>C (p.Gly1054=)
|
|
|
NM_000548.5(TSC2):c.3164G>A (p.Gly1055Asp)
|
rs1443030830
|
|
NM_000548.5(TSC2):c.3168G>A (p.Arg1056=)
|
rs1240555646
|
|
NM_000548.5(TSC2):c.3177C>G (p.Thr1059=)
|
rs1031918517
|
|
NM_000548.5(TSC2):c.3177C>T (p.Thr1059=)
|
rs1031918517
|
|
NM_000548.5(TSC2):c.3195G>A (p.Lys1065=)
|
rs1596383887
|
|
NM_000548.5(TSC2):c.31T>C (p.Leu11=)
|
rs978517404
|
|
NM_000548.5(TSC2):c.3201C>T (p.Val1067=)
|
|
|
NM_000548.5(TSC2):c.3210G>C (p.Thr1070=)
|
rs539927192
|
|
NM_000548.5(TSC2):c.3210G>T (p.Thr1070=)
|
rs539927192
|
|
NM_000548.5(TSC2):c.3217G>A (p.Val1073Met)
|
rs749192298
|
|
NM_000548.5(TSC2):c.321C>T (p.Ala107=)
|
rs1280933774
|
|
NM_000548.5(TSC2):c.3225C>A (p.Thr1075=)
|
|
|
NM_000548.5(TSC2):c.3228G>C (p.Gly1076=)
|
rs771763773
|
|
NM_000548.5(TSC2):c.3231C>T (p.Thr1077=)
|
rs772876273
|
|
NM_000548.5(TSC2):c.3232C>A (p.Arg1078=)
|
rs78956195
|
|
NM_000548.5(TSC2):c.3234G>A (p.Arg1078=)
|
rs1256666302
|
|
NM_000548.5(TSC2):c.3237G>T (p.Ser1079=)
|
|
|
NM_000548.5(TSC2):c.3238T>C (p.Leu1080=)
|
rs1596384213
|
|
NM_000548.5(TSC2):c.3241C>T (p.Leu1081=)
|
rs1555510658
|
|
NM_000548.5(TSC2):c.3243A>G (p.Leu1081=)
|
rs1156745816
|
|
NM_000548.5(TSC2):c.3246C>T (p.Gly1082=)
|
|
|
NM_000548.5(TSC2):c.3247C>T (p.Leu1083=)
|
|
|
NM_000548.5(TSC2):c.3252C>T (p.Asp1084=)
|
|
|
NM_000548.5(TSC2):c.3255G>A (p.Ser1085=)
|
rs750617693
|
|
NM_000548.5(TSC2):c.3255G>C (p.Ser1085=)
|
rs750617693
|
|
NM_000548.5(TSC2):c.3255G>T (p.Ser1085=)
|
rs750617693
|
|
NM_000548.5(TSC2):c.3258G>A (p.Gly1086=)
|
rs2151440552
|
|
NM_000548.5(TSC2):c.3261G>A (p.Glu1087=)
|
rs45438093
|
|
NM_000548.5(TSC2):c.3262C>T (p.Leu1088=)
|
|
|
NM_000548.5(TSC2):c.3264G>A (p.Leu1088=)
|
rs920434484
|
|
NM_000548.5(TSC2):c.3267G>A (p.Gln1089=)
|
rs1555510717
|
|
NM_000548.5(TSC2):c.3273C>T (p.Gly1091=)
|
rs1060500971
|
|
NM_000548.5(TSC2):c.3276G>C (p.Pro1092=)
|
rs368923127
|
|
NM_000548.5(TSC2):c.3279G>A (p.Glu1093=)
|
|
|
NM_000548.5(TSC2):c.327G>T (p.Val109=)
|
|
|
NM_000548.5(TSC2):c.3284+10C>G
|
rs776269274
|
|
NM_000548.5(TSC2):c.3284+11C>T
|
|
|
NM_000548.5(TSC2):c.3284+13T>A
|
|
|
NM_000548.5(TSC2):c.3284+16T>C
|
|
|
NM_000548.5(TSC2):c.3284+4_3284+6dup
|
|
|
NM_000548.5(TSC2):c.3284+7G>A
|
|
|
NM_000548.5(TSC2):c.3284+7G>T
|
rs1179505582
|
|
NM_000548.5(TSC2):c.3285-10C>G
|
rs763903351
|
|
NM_000548.5(TSC2):c.3285-14G>A
|
|
|
NM_000548.5(TSC2):c.3285-15G>A
|
rs1342617015
|
|
NM_000548.5(TSC2):c.3285-18G>C
|
|
|
NM_000548.5(TSC2):c.3285-20del
|
|
|
NM_000548.5(TSC2):c.3285-4T>C
|
rs756951926
|
|
NM_000548.5(TSC2):c.3285-5C>G
|
rs1444989940
|
|
NM_000548.5(TSC2):c.3285-8C>G
|
rs751418785
|
|
NM_000548.5(TSC2):c.3285-8C>T
|
rs751418785
|
|
NM_000548.5(TSC2):c.3288C>T (p.Ser1096=)
|
rs1596385627
|
|
NM_000548.5(TSC2):c.3291C>T (p.Ser1097=)
|
rs1173297358
|
|
NM_000548.5(TSC2):c.3293C>G (p.Pro1098Arg)
|
rs773545852
|
|
NM_000548.5(TSC2):c.3306G>A (p.Val1102=)
|
rs762917290
|
|
NM_000548.5(TSC2):c.330G>A (p.Gln110=)
|
rs1203856960
|
|
NM_000548.5(TSC2):c.3315C>G (p.Thr1105=)
|
rs1206474156
|
|
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.3326C>T (p.Pro1109Leu)
|
rs796053474
|
|
NM_000548.5(TSC2):c.3327G>T (p.Pro1109=)
|
rs45478393
|
|
NM_000548.5(TSC2):c.3330C>G (p.Ala1110=)
|
rs1555510912
|
|
NM_000548.5(TSC2):c.3330C>T (p.Ala1110=)
|
rs1555510912
|
|
NM_000548.5(TSC2):c.3336G>T (p.Leu1112=)
|
rs1389714633
|
|
NM_000548.5(TSC2):c.3339G>A (p.Glu1113=)
|
rs1060504092
|
|
NM_000548.5(TSC2):c.333G>A (p.Gly111=)
|
rs1198874350
|
|
NM_000548.5(TSC2):c.333G>C (p.Gly111=)
|
rs1198874350
|
|
NM_000548.5(TSC2):c.3342C>A (p.Ser1114=)
|
rs755871381
|
|
NM_000548.5(TSC2):c.3348T>C (p.Ala1116=)
|
|
|
NM_000548.5(TSC2):c.3351G>A (p.Gly1117=)
|
rs1596386166
|
|
NM_000548.5(TSC2):c.3357G>A (p.Gln1119=)
|
rs1309073649
|
|
NM_000548.5(TSC2):c.336+11G>T
|
rs983337757
|
|
NM_000548.5(TSC2):c.336+13G>A
|
|
|
NM_000548.5(TSC2):c.336+14C>G
|
|
|
NM_000548.5(TSC2):c.336+15G>C
|
rs777904257
|
|
NM_000548.5(TSC2):c.336+16A>G
|
|
|
NM_000548.5(TSC2):c.336+18G>A
|
rs2085381541
|
|
NM_000548.5(TSC2):c.336+18G>T
|
rs2085381541
|
|
NM_000548.5(TSC2):c.336+19C>A
|
rs2151029584
|
|
NM_000548.5(TSC2):c.336+19C>T
|
|
|
NM_000548.5(TSC2):c.336+7C>A
|
rs1199855368
|
|
NM_000548.5(TSC2):c.3360G>T (p.Val1120=)
|
rs1596386237
|
|
NM_000548.5(TSC2):c.3363C>G (p.Ser1121=)
|
rs1555510946
|
|
NM_000548.5(TSC2):c.337-12T>A
|
rs2151039655
|
|
NM_000548.5(TSC2):c.337-13C>T
|
|
|
NM_000548.5(TSC2):c.337-14G>C
|
|
|
NM_000548.5(TSC2):c.337-16T>C
|
|
|
NM_000548.5(TSC2):c.337-16_337-15delinsCC
|
rs2151039514
|
|
NM_000548.5(TSC2):c.337-17G>A
|
rs1259615174
|
|
NM_000548.5(TSC2):c.337-17G>T
|
|
|
NM_000548.5(TSC2):c.337-18T>C
|
rs2151039421
|
|
NM_000548.5(TSC2):c.337-19C>G
|
|
|
NM_000548.5(TSC2):c.337-19del
|
|
|
NM_000548.5(TSC2):c.337-20C>G
|
rs376175375
|
|
NM_000548.5(TSC2):c.337-20C>T
|
|
|
NM_000548.5(TSC2):c.337-6C>G
|
rs760230326
|
|
NM_000548.5(TSC2):c.337-6C>T
|
|
|
NM_000548.5(TSC2):c.337-8G>C
|
|
|
NM_000548.5(TSC2):c.3372C>G (p.Ala1124=)
|
rs1555510963
|
|
NM_000548.5(TSC2):c.3372C>T (p.Ala1124=)
|
rs1555510963
|
|
NM_000548.5(TSC2):c.3375G>A (p.Arg1125=)
|
rs878854093
|
|
NM_000548.5(TSC2):c.3381G>A (p.Arg1127=)
|
rs1596386421
|
|
NM_000548.5(TSC2):c.3381G>C (p.Arg1127=)
|
rs1596386421
|
|
NM_000548.5(TSC2):c.3387T>C (p.Arg1129=)
|
|
|
NM_000548.5(TSC2):c.3397+11G>A
|
rs1596386676
|
|
NM_000548.5(TSC2):c.3397+16A>C
|
rs1456373944
|
|
NM_000548.5(TSC2):c.3397+17G>A
|
|
|
NM_000548.5(TSC2):c.3397+17G>C
|
|
|
NM_000548.5(TSC2):c.3397+18C>T
|
|
|
NM_000548.5(TSC2):c.3397+19C>A
|
|
|
NM_000548.5(TSC2):c.3397+19C>T
|
|
|
NM_000548.5(TSC2):c.3397+20A>C
|
rs376079104
|
|
NM_000548.5(TSC2):c.3397+21_3397+22insGTCCACAC
|
|
|
NM_000548.5(TSC2):c.3397+8T>C
|
|
|
NM_000548.5(TSC2):c.3397+9T>G
|
|
|
NM_000548.5(TSC2):c.3398-10T>G
|
rs137854369
|
|
NM_000548.5(TSC2):c.3398-10TCT[3]
|
|
|
NM_000548.5(TSC2):c.3398-11C>T
|
rs1567503013
|
|
NM_000548.5(TSC2):c.3398-12C>A
|
|
|
NM_000548.5(TSC2):c.3398-12C>T
|
rs2151455240
|
|
NM_000548.5(TSC2):c.3398-14G>A
|
|
|
NM_000548.5(TSC2):c.3398-16C>T
|
|
|
NM_000548.5(TSC2):c.3398-16_3398-15del
|
|
|
NM_000548.5(TSC2):c.3398-17T>C
|
|
|
NM_000548.5(TSC2):c.3398-18C>G
|
rs772159760
|
|
NM_000548.5(TSC2):c.3398-5_3398-3del
|
rs1060500917
|
|
NM_000548.5(TSC2):c.3398-6C>G
|
rs1555511284
|
|
NM_000548.5(TSC2):c.3398-6C>T
|
rs1555511284
|
|
NM_000548.5(TSC2):c.3398-8T>G
|
|
|
NM_000548.5(TSC2):c.3398-9C>G
|
|
|
NM_000548.5(TSC2):c.3399G>A (p.Gly1133=)
|
rs2151455530
|
|
NM_000548.5(TSC2):c.33G>A (p.Leu11=)
|
rs1190907341
|
|
NM_000548.5(TSC2):c.3402C>T (p.Gly1134=)
|
rs973994676
|
|
NM_000548.5(TSC2):c.3411T>G (p.Leu1137=)
|
rs876660766
|
|
NM_000548.5(TSC2):c.3417T>C (p.Val1139=)
|
|
|
NM_000548.5(TSC2):c.3420C>G (p.Gly1140=)
|
|
|
NM_000548.5(TSC2):c.3424C>T (p.Leu1142=)
|
rs1060504111
|
|
NM_000548.5(TSC2):c.3428A>T (p.Asp1143Val)
|
rs796053495
|
|
NM_000548.5(TSC2):c.3432G>T (p.Val1144=)
|
rs564724053
|
|
NM_000548.5(TSC2):c.3435G>T (p.Pro1145=)
|
rs749633483
|
|
NM_000548.5(TSC2):c.3438C>T (p.Ala1146=)
|
rs755204133
|
|
NM_000548.5(TSC2):c.3441C>T (p.Ser1147=)
|
|
|
NM_000548.5(TSC2):c.3448C>T (p.Leu1150=)
|
rs1060504121
|
|
NM_000548.5(TSC2):c.3450G>A (p.Leu1150=)
|
|
|
NM_000548.5(TSC2):c.3450G>C (p.Leu1150=)
|
rs2151457176
|
|
NM_000548.5(TSC2):c.3453C>A (p.Gly1151=)
|
rs1596389809
|
|
NM_000548.5(TSC2):c.3453C>T (p.Gly1151=)
|
rs1596389809
|
|
NM_000548.5(TSC2):c.3456T>C (p.Ser1152=)
|
|
|
NM_000548.5(TSC2):c.3459C>G (p.Ala1153=)
|
rs1596389837
|
|
NM_000548.5(TSC2):c.3459C>T (p.Ala1153=)
|
|
|
NM_000548.5(TSC2):c.3465T>A (p.Ser1155=)
|
|
|
NM_000548.5(TSC2):c.3471A>G (p.Gly1157=)
|
rs1192862238
|
|
NM_000548.5(TSC2):c.3474A>G (p.Pro1158=)
|
|
|
NM_000548.5(TSC2):c.3486A>T (p.Pro1162=)
|
rs1277144134
|
|
NM_000548.5(TSC2):c.348G>A (p.Leu116=)
|
rs2151040222
|
|
NM_000548.5(TSC2):c.3495A>G (p.Lys1165=)
|
rs1555511443
|
|
NM_000548.5(TSC2):c.3498T>C (p.Pro1166=)
|
rs2151458951
|
|
NM_000548.5(TSC2):c.3507C>T (p.Ala1169=)
|
rs2089968510
|
|
NM_000548.5(TSC2):c.3516C>A (p.Gly1172=)
|
rs1555511474
|
|
NM_000548.5(TSC2):c.3516C>T (p.Gly1172=)
|
rs1555511474
|
|
NM_000548.5(TSC2):c.3519C>A (p.Thr1173=)
|
|
|
NM_000548.5(TSC2):c.3519C>T (p.Thr1173=)
|
rs754306983
|
|
NM_000548.5(TSC2):c.351G>A (p.Gly117=)
|
rs1555497554
|
|
NM_000548.5(TSC2):c.351G>C (p.Gly117=)
|
|
|
NM_000548.5(TSC2):c.3522G>C (p.Arg1174=)
|
rs2151459876
|
|
NM_000548.5(TSC2):c.3543G>C (p.Thr1181=)
|
rs139313964
|
|
NM_000548.5(TSC2):c.3546C>T (p.Asn1182=)
|
|
|
NM_000548.5(TSC2):c.3549G>A (p.Leu1183=)
|
rs1596390611
|
|
NM_000548.5(TSC2):c.3549G>C (p.Leu1183=)
|
rs1596390611
|
|
NM_000548.5(TSC2):c.3549G>T (p.Leu1183=)
|
|
|
NM_000548.5(TSC2):c.354C>T (p.Val118=)
|
rs762228318
|
|
NM_000548.5(TSC2):c.3552G>T (p.Ala1184=)
|
|
|
NM_000548.5(TSC2):c.3555C>A (p.Ala1185=)
|
rs745762286
|
|
NM_000548.5(TSC2):c.3558T>C (p.Tyr1186=)
|
rs1202939879
|
|
NM_000548.5(TSC2):c.3561G>A (p.Val1187=)
|
rs2151461210
|
|
NM_000548.5(TSC2):c.3564C>G (p.Pro1188=)
|
rs1253270588
|
|
NM_000548.5(TSC2):c.3565C>T (p.Leu1189=)
|
rs796053476
|
|
NM_000548.5(TSC2):c.3568C>T (p.Leu1190=)
|
rs2151461483
|
|
NM_000548.5(TSC2):c.3573C>G (p.Thr1191=)
|
rs768318835
|
|
NM_000548.5(TSC2):c.3576G>A (p.Gln1192=)
|
|
|
NM_000548.5(TSC2):c.357C>G (p.Leu119=)
|
rs1168763677
|
|
NM_000548.5(TSC2):c.357C>T (p.Leu119=)
|
rs1168763677
|
|
NM_000548.5(TSC2):c.3591C>T (p.Ile1197=)
|
rs765503216
|
|
NM_000548.5(TSC2):c.3592C>T (p.Leu1198=)
|
rs2151462335
|
|
NM_000548.5(TSC2):c.3594G>C (p.Leu1198=)
|
|
|
NM_000548.5(TSC2):c.3597C>G (p.Val1199=)
|
rs2151462541
|
|
NM_000548.5(TSC2):c.3600G>T (p.Arg1200=)
|
|
|
NM_000548.5(TSC2):c.3606C>T (p.Pro1202=)
|
rs772580979
|
|
NM_000548.5(TSC2):c.3610+10_3610+14dup
|
rs2151463108
|
|
NM_000548.5(TSC2):c.3610+11G>T
|
rs751767873
|
|
NM_000548.5(TSC2):c.3610+12_3610+13dup
|
|
|
NM_000548.5(TSC2):c.3610+16G>A
|
|
|
NM_000548.5(TSC2):c.3610+17del
|
rs2151463362
|
|
NM_000548.5(TSC2):c.3610+18C>T
|
rs1253628641
|
|
NM_000548.5(TSC2):c.3610+19C>G
|
rs2151463426
|
|
NM_000548.5(TSC2):c.3610+20T>A
|
rs2151463450
|
|
NM_000548.5(TSC2):c.3610+8G>A
|
rs1338516319
|
|
NM_000548.5(TSC2):c.3610+9C>A
|
rs45467194
|
|
NM_000548.5(TSC2):c.3611-10G>C
|
rs372045362
|
|
NM_000548.5(TSC2):c.3611-11C>G
|
rs375617364
|
|
NM_000548.5(TSC2):c.3611-11C>T
|
rs375617364
|
|
NM_000548.5(TSC2):c.3611-12C>A
|
rs2151480298
|
|
NM_000548.5(TSC2):c.3611-13G>A
|
rs2151480264
|
|
NM_000548.5(TSC2):c.3611-13del
|
rs2151480283
|
|
NM_000548.5(TSC2):c.3611-14T>C
|
|
|
NM_000548.5(TSC2):c.3611-15C>T
|
|
|
NM_000548.5(TSC2):c.3611-16G>A
|
rs2151480236
|
|
NM_000548.5(TSC2):c.3611-17T>C
|
rs2090146202
|
|
NM_000548.5(TSC2):c.3611-18G>T
|
|
|
NM_000548.5(TSC2):c.3611-20A>G
|
|
|
NM_000548.5(TSC2):c.3611-4G>T
|
rs368926908
|
|
NM_000548.5(TSC2):c.3611-6C>T
|
rs989103352
|
|
NM_000548.5(TSC2):c.3611-8C>T
|
rs1596399469
|
|
NM_000548.5(TSC2):c.3611-9C>A
|
|
|
NM_000548.5(TSC2):c.3611-9C>T
|
rs45517304
|
|
NM_000548.5(TSC2):c.3612G>A (p.Gly1204=)
|
rs1555512292
|
|
NM_000548.5(TSC2):c.3612G>C (p.Gly1204=)
|
rs1555512292
|
|
NM_000548.5(TSC2):c.3618C>A (p.Thr1206=)
|
rs1057522260
|
|
NM_000548.5(TSC2):c.3618C>G (p.Thr1206=)
|
rs1057522260
|
|
NM_000548.5(TSC2):c.3618C>T (p.Thr1206=)
|
rs1057522260
|
|
NM_000548.5(TSC2):c.3621C>T (p.Ser1207=)
|
rs2151480833
|
|
NM_000548.5(TSC2):c.3627G>A (p.Leu1209=)
|
rs2151480958
|
|
NM_000548.5(TSC2):c.3633C>T (p.Ser1211=)
|
rs2090152012
|
|
NM_000548.5(TSC2):c.3636G>A (p.Leu1212=)
|
rs778744545
|
|
NM_000548.5(TSC2):c.3642C>T (p.Asn1214=)
|
rs2151481160
|
|
NM_000548.5(TSC2):c.3644C>T (p.Pro1215Leu)
|
rs933257311
|
|
NM_000548.5(TSC2):c.3645G>A (p.Pro1215=)
|
rs758114962
|
|
NM_000548.5(TSC2):c.3645G>C (p.Pro1215=)
|
rs758114962
|
|
NM_000548.5(TSC2):c.3645G>T (p.Pro1215=)
|
rs758114962
|
|
NM_000548.5(TSC2):c.3648C>G (p.Leu1216=)
|
rs777246414
|
|
NM_000548.5(TSC2):c.3657C>T (p.Phe1219=)
|
rs1596399888
|
|
NM_000548.5(TSC2):c.3663G>C (p.Ser1221=)
|
rs137854268
|
|
NM_000548.5(TSC2):c.3669C>T (p.Ile1223=)
|
rs2151481655
|
|
NM_000548.5(TSC2):c.366C>G (p.Leu122=)
|
|
|
NM_000548.5(TSC2):c.366C>T (p.Leu122=)
|
rs1397677711
|
|
NM_000548.5(TSC2):c.3672C>T (p.Asn1224=)
|
rs2151481746
|
|
NM_000548.5(TSC2):c.3681C>T (p.Pro1227=)
|
rs181279399
|
|
NM_000548.5(TSC2):c.3684G>A (p.Leu1228=)
|
rs185457522
|
|
NM_000548.5(TSC2):c.3687G>A (p.Gln1229=)
|
rs140384709
|
|
NM_000548.5(TSC2):c.3691C>T (p.Leu1231=)
|
|
|
NM_000548.5(TSC2):c.3696T>G (p.Ser1232=)
|
rs767812115
|
|
NM_000548.5(TSC2):c.36G>A (p.Lys12=)
|
rs1596233951
|
|
NM_000548.5(TSC2):c.3720C>G (p.Arg1240=)
|
rs2151482826
|
|
NM_000548.5(TSC2):c.3720C>T (p.Arg1240=)
|
rs2151482826
|
|
NM_000548.5(TSC2):c.3726G>A (p.Lys1242=)
|
rs1596400322
|
|
NM_000548.5(TSC2):c.3729G>A (p.Glu1243=)
|
|
|
NM_000548.5(TSC2):c.372T>C (p.Phe124=)
|
rs753922923
|
|
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=)
|
rs777489742
|
|
NM_000548.5(TSC2):c.3735G>A (p.Arg1245=)
|
rs756959674
|
|
NM_000548.5(TSC2):c.3744C>G (p.Ala1248=)
|
rs45517307
|
|
NM_000548.5(TSC2):c.3745C>T (p.Leu1249=)
|
rs1596400436
|
|
NM_000548.5(TSC2):c.3753G>A (p.Lys1251=)
|
|
|
NM_000548.5(TSC2):c.3756A>C (p.Ser1252=)
|
|
|
NM_000548.5(TSC2):c.3756A>G (p.Ser1252=)
|
rs1228112359
|
|
NM_000548.5(TSC2):c.3759G>C (p.Leu1253=)
|
rs878854095
|
|
NM_000548.5(TSC2):c.3762G>T (p.Ser1254=)
|
|
|
NM_000548.5(TSC2):c.3774C>T (p.Ala1258=)
|
rs876659596
|
|
NM_000548.5(TSC2):c.3786A>G (p.Lys1262=)
|
rs752513898
|
|
NM_000548.5(TSC2):c.3789C>G (p.Pro1263=)
|
|
|
NM_000548.5(TSC2):c.3789C>T (p.Pro1263=)
|
rs2151484598
|
|
NM_000548.5(TSC2):c.3792T>C (p.Pro1264=)
|
rs763855971
|
|
NM_000548.5(TSC2):c.3795T>A (p.Pro1265=)
|
|
|
NM_000548.5(TSC2):c.3796C>T (p.Leu1266=)
|
rs2090172721
|
|
NM_000548.5(TSC2):c.3798G>A (p.Leu1266=)
|
rs1187813837
|
|
NM_000548.5(TSC2):c.3801T>C (p.Pro1267=)
|
|
|
NM_000548.5(TSC2):c.3804C>T (p.Arg1268=)
|
rs1358080651
|
|
NM_000548.5(TSC2):c.3807C>T (p.Ser1269=)
|
rs1596400911
|
|
NM_000548.5(TSC2):c.3810C>T (p.Asn1270=)
|
|
|
NM_000548.5(TSC2):c.3813A>G (p.Thr1271=)
|
rs1555512577
|
|
NM_000548.5(TSC2):c.3814+13G>A
|
|
|
NM_000548.5(TSC2):c.3814+14C>A
|
|
|
NM_000548.5(TSC2):c.3814+17G>T
|
|
|
NM_000548.5(TSC2):c.3814+18C>T
|
rs2090177503
|
|
NM_000548.5(TSC2):c.3814+19C>G
|
|
|
NM_000548.5(TSC2):c.3814+20T>C
|
|
|
NM_000548.5(TSC2):c.3814+5G>A
|
rs1555512582
|
|
NM_000548.5(TSC2):c.3814+8G>A
|
|
|
NM_000548.5(TSC2):c.3814+8G>C
|
rs1297489453
|
|
NM_000548.5(TSC2):c.3814+8G>T
|
|
|
NM_000548.5(TSC2):c.3815-14G>A
|
|
|
NM_000548.5(TSC2):c.3815-14dup
|
|
|
NM_000548.5(TSC2):c.3815-18C>T
|
|
|
NM_000548.5(TSC2):c.3815-3C>G
|
rs770054036
|
|
NM_000548.5(TSC2):c.3815-4G>A
|
rs1410163756
|
|
NM_000548.5(TSC2):c.3815-56_3815-15del
|
rs2151491359
|
|
NM_000548.5(TSC2):c.3815-7C>T
|
|
|
NM_000548.5(TSC2):c.3815-8C>T
|
rs1596404187
|
|
NM_000548.5(TSC2):c.3815-9C>T
|
rs1060504091
|
|
NM_000548.5(TSC2):c.3819C>A (p.Ala1273=)
|
rs1248167345
|
|
NM_000548.5(TSC2):c.3819C>G (p.Ala1273=)
|
rs1248167345
|
|
NM_000548.5(TSC2):c.3819C>T (p.Ala1273=)
|
|
|
NM_000548.5(TSC2):c.381C>T (p.Ile127=)
|
|
|
NM_000548.5(TSC2):c.3828C>T (p.Ser1276=)
|
|
|
NM_000548.5(TSC2):c.3834G>C (p.Leu1278=)
|
rs766029525
|
|
NM_000548.5(TSC2):c.3837C>T (p.Tyr1279=)
|
rs1555512861
|
|
NM_000548.5(TSC2):c.3846C>T (p.Ser1282=)
|
rs1596404651
|
|
NM_000548.5(TSC2):c.3846_3847del (p.Ser1282fs)
|
|
|
NM_000548.5(TSC2):c.3846_3854del (p.Ser1282_Gly1285delinsArg)
|
rs997331401
|
|
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.3850_3856del (p.Gln1284fs)
|
rs752493138
|
|
NM_000548.5(TSC2):c.3861G>C (p.Leu1287=)
|
rs2151493248
|
|
NM_000548.5(TSC2):c.3864C>T (p.His1288=)
|
rs2151493292
|
|
NM_000548.5(TSC2):c.3867G>A (p.Arg1289=)
|
rs1008733639
|
|
NM_000548.5(TSC2):c.3876C>A (p.Ser1292=)
|
rs1173548095
|
|
NM_000548.5(TSC2):c.3876C>T (p.Ser1292=)
|
|
|
NM_000548.5(TSC2):c.3881dup (p.Asp1295fs)
|
rs1555512887
|
|
NM_000548.5(TSC2):c.3883+10C>G
|
|
|
NM_000548.5(TSC2):c.3883+10C>T
|
|
|
NM_000548.5(TSC2):c.3883+14G>C
|
|
|
NM_000548.5(TSC2):c.3883+15A>G
|
rs112925751
|
|
NM_000548.5(TSC2):c.3883+15A>T
|
|
|
NM_000548.5(TSC2):c.3883+16G>A
|
|
|
NM_000548.5(TSC2):c.3883+7C>A
|
rs2151493855
|
|
NM_000548.5(TSC2):c.3883+8C>T
|
rs45517316
|
|
NM_000548.5(TSC2):c.3884-10G>A
|
|
|
NM_000548.5(TSC2):c.3884-12G>A
|
rs1282062597
|
|
NM_000548.5(TSC2):c.3884-13TG[4]
|
|
|
NM_000548.5(TSC2):c.3884-15T>A
|
rs2090412969
|
|
NM_000548.5(TSC2):c.3884-16G>C
|
|
|
NM_000548.5(TSC2):c.3884-17C>A
|
rs45517317
|
|
NM_000548.5(TSC2):c.3884-17C>T
|
rs45517317
|
|
NM_000548.5(TSC2):c.3884-18C>T
|
|
|
NM_000548.5(TSC2):c.3884-19C>G
|
rs2151509370
|
|
NM_000548.5(TSC2):c.3884-19C>T
|
|
|
NM_000548.5(TSC2):c.3884-3C>T
|
rs2090415795
|
|
NM_000548.5(TSC2):c.3884-4C>G
|
rs2151509808
|
|
NM_000548.5(TSC2):c.3884-4C>T
|
|
|
NM_000548.5(TSC2):c.3884-5C>G
|
rs980261526
|
|
NM_000548.5(TSC2):c.3884-6_3884-5del
|
rs2090414957
|
|
NM_000548.5(TSC2):c.3884-7C>T
|
rs1277989059
|
|
NM_000548.5(TSC2):c.3884-8C>T
|
rs397515219
|
|
NM_000548.5(TSC2):c.3888C>G (p.Ser1296=)
|
rs141252704
|
|
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=)
|
rs373508609
|
|
NM_000548.5(TSC2):c.3897C>T (p.Val1299=)
|
|
|
NM_000548.5(TSC2):c.3903G>A (p.Glu1301=)
|
rs1429956058
|
|
NM_000548.5(TSC2):c.3906G>A (p.Glu1302=)
|
rs2151510679
|
|
NM_000548.5(TSC2):c.390C>T (p.Tyr130=)
|
rs2151041690
|
|
NM_000548.5(TSC2):c.3915G>C (p.Pro1305=)
|
rs11551373
|
|
NM_000548.5(TSC2):c.3918C>A (p.Gly1306=)
|
rs368712041
|
|
NM_000548.5(TSC2):c.3924T>A (p.Val1308=)
|
|
|
NM_000548.5(TSC2):c.3924T>C (p.Val1308=)
|
rs878854097
|
|
NM_000548.5(TSC2):c.3924T>G (p.Val1308=)
|
rs878854097
|
|
NM_000548.5(TSC2):c.3927T>A (p.Pro1309=)
|
|
|
NM_000548.5(TSC2):c.3927T>C (p.Pro1309=)
|
rs1488161104
|
|
NM_000548.5(TSC2):c.3931C>T (p.Leu1311=)
|
|
|
NM_000548.5(TSC2):c.3933G>A (p.Leu1311=)
|
rs768160843
|
|
NM_000548.5(TSC2):c.3936G>A (p.Val1312=)
|
rs876659932
|
|
NM_000548.5(TSC2):c.3939G>A (p.Glu1313=)
|
rs149340262
|
|
NM_000548.5(TSC2):c.393T>C (p.Pro131=)
|
rs2151041812
|
|
NM_000548.5(TSC2):c.393T>G (p.Pro131=)
|
|
|
NM_000548.5(TSC2):c.3942C>A (p.Pro1314=)
|
rs759988275
|
|
NM_000548.5(TSC2):c.3942C>G (p.Pro1314=)
|
rs759988275
|
|
NM_000548.5(TSC2):c.3945A>G (p.Pro1315=)
|
rs1811018177
|
|
NM_000548.5(TSC2):c.3945A>T (p.Pro1315=)
|
|
|
NM_000548.5(TSC2):c.3948G>A (p.Gly1316=)
|
rs763278787
|
|
NM_000548.5(TSC2):c.3948G>T (p.Gly1316=)
|
|
|
NM_000548.5(TSC2):c.3954G>A (p.Glu1318=)
|
rs1165479631
|
|
NM_000548.5(TSC2):c.3963G>A (p.Glu1321=)
|
rs587778737
|
|
NM_000548.5(TSC2):c.3966A>G (p.Ala1322=)
|
|
|
NM_000548.5(TSC2):c.3969G>T (p.Ala1323=)
|
rs749057825
|
|
NM_000548.5(TSC2):c.396C>T (p.Ser132=)
|
rs1060504083
|
|
NM_000548.5(TSC2):c.3970C>T (p.Leu1324=)
|
rs549060036
|
|
NM_000548.5(TSC2):c.3972A>G (p.Leu1324=)
|
|
|
NM_000548.5(TSC2):c.3972A>T (p.Leu1324=)
|
|
|
NM_000548.5(TSC2):c.3984G>A (p.Arg1328=)
|
rs2151513555
|
|
NM_000548.5(TSC2):c.3990G>T (p.Thr1330=)
|
rs369943684
|
|
NM_000548.5(TSC2):c.3996C>A (p.Ala1332=)
|
rs1421997373
|
|
NM_000548.5(TSC2):c.4002C>T (p.Ser1334=)
|
rs1060500911
|
|
NM_000548.5(TSC2):c.4005+10G>T
|
rs2090437677
|
|
NM_000548.5(TSC2):c.4005+11C>G
|
|
|
NM_000548.5(TSC2):c.4005+12T>C
|
|
|
NM_000548.5(TSC2):c.4005+13C>T
|
|
|
NM_000548.5(TSC2):c.4005+16A>C
|
|
|
NM_000548.5(TSC2):c.4005+16A>G
|
rs998429192
|
|
NM_000548.5(TSC2):c.4005+19C>G
|
rs558058715
|
|
NM_000548.5(TSC2):c.4005+4_4005+7dup
|
rs796053519
|
|
NM_000548.5(TSC2):c.4005+7G>A
|
rs2151514474
|
|
NM_000548.5(TSC2):c.4005+8_4005+9del
|
rs758495749
|
|
NM_000548.5(TSC2):c.4006-11G>A
|
|
|
NM_000548.5(TSC2):c.4006-14A>C
|
rs1350511311
|
|
NM_000548.5(TSC2):c.4006-15G>C
|
rs2090477452
|
|
NM_000548.5(TSC2):c.4006-15del
|
rs1049832329
|
|
NM_000548.5(TSC2):c.4006-17G>C
|
|
|
NM_000548.5(TSC2):c.4006-4C>T
|
rs772258522
|
|
NM_000548.5(TSC2):c.4006-5T>C
|
rs1596415173
|
|
NM_000548.5(TSC2):c.4006-7T>C
|
rs2151520224
|
|
NM_000548.5(TSC2):c.4006-7T>G
|
rs2151520224
|
|
NM_000548.5(TSC2):c.4006-9C>T
|
rs1555513765
|
|
NM_000548.5(TSC2):c.4008G>T (p.Ser1336=)
|
rs760704956
|
|
NM_000548.5(TSC2):c.4011C>T (p.Ser1337=)
|
|
|
NM_000548.5(TSC2):c.4014A>C (p.Ser1338=)
|
rs1481292684
|
|
NM_000548.5(TSC2):c.4014A>G (p.Ser1338=)
|
rs1481292684
|
|
NM_000548.5(TSC2):c.4017C>G (p.Val1339=)
|
rs876658217
|
|
NM_000548.5(TSC2):c.4017C>T (p.Val1339=)
|
rs876658217
|
|
NM_000548.5(TSC2):c.4020C>T (p.Ser1340=)
|
rs1596415292
|
|
NM_000548.5(TSC2):c.4026G>A (p.Gln1342=)
|
rs765005488
|
|
NM_000548.5(TSC2):c.4029G>A (p.Glu1343=)
|
rs752502287
|
|
NM_000548.5(TSC2):c.4035G>A (p.Lys1345=)
|
rs1335576471
|
|
NM_000548.5(TSC2):c.4038G>T (p.Ser1346=)
|
rs756763596
|
|
NM_000548.5(TSC2):c.4041C>T (p.Leu1347=)
|
rs1060504109
|
|
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.4053G>A (p.Glu1351=)
|
|
|
NM_000548.5(TSC2):c.4056G>A (p.Leu1352=)
|
rs772309833
|
|
NM_000548.5(TSC2):c.4056G>C (p.Leu1352=)
|
rs772309833
|
|
NM_000548.5(TSC2):c.4056G>T (p.Leu1352=)
|
rs772309833
|
|
NM_000548.5(TSC2):c.405C>T (p.Asp135=)
|
rs1005115266
|
|
NM_000548.5(TSC2):c.4063A>C (p.Arg1355=)
|
|
|
NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly)
|
rs1555513911
|
|
NM_000548.5(TSC2):c.4065G>A (p.Arg1355=)
|
rs2151521953
|
|
NM_000548.5(TSC2):c.4071C>T (p.Ile1357=)
|
|
|
NM_000548.5(TSC2):c.4086C>G (p.Val1362=)
|
|
|
NM_000548.5(TSC2):c.4089C>T (p.Val1363=)
|
rs1036544111
|
|
NM_000548.5(TSC2):c.4092C>A (p.Ser1364=)
|
|
|
NM_000548.5(TSC2):c.4092C>T (p.Ser1364=)
|
rs1251019267
|
|
NM_000548.5(TSC2):c.4105C>A (p.Arg1369=)
|
rs45517328
|
|
NM_000548.5(TSC2):c.4110C>A (p.Pro1370=)
|
|
|
NM_000548.5(TSC2):c.4110C>G (p.Pro1370=)
|
rs771107874
|
|
NM_000548.5(TSC2):c.4110C>T (p.Pro1370=)
|
rs771107874
|
|
NM_000548.5(TSC2):c.4119C>T (p.Asp1373=)
|
rs2090494735
|
|
NM_000548.5(TSC2):c.4122C>G (p.Leu1374=)
|
|
|
NM_000548.5(TSC2):c.4125C>G (p.Ser1375=)
|
rs1050512482
|
|
NM_000548.5(TSC2):c.4128C>T (p.Phe1376=)
|
rs1060504086
|
|
NM_000548.5(TSC2):c.4134C>G (p.Pro1378=)
|
rs1060504081
|
|
NM_000548.5(TSC2):c.4134C>T (p.Pro1378=)
|
rs1060504081
|
|
NM_000548.5(TSC2):c.4137G>T (p.Ser1379=)
|
rs769653533
|
|
NM_000548.5(TSC2):c.4140G>A (p.Gln1380=)
|
rs1596416227
|
|
NM_000548.5(TSC2):c.4143C>T (p.Pro1381=)
|
rs1555514056
|
|
NM_000548.5(TSC2):c.4146G>C (p.Leu1382=)
|
|
|
NM_000548.5(TSC2):c.4152G>A (p.Lys1384=)
|
rs2151525029
|
|
NM_000548.5(TSC2):c.4155C>T (p.Ser1385=)
|
rs1057521540
|
|
NM_000548.5(TSC2):c.4161C>A (p.Ser1387=)
|
|
|
NM_000548.5(TSC2):c.4164T>A (p.Ser1388=)
|
rs2151525515
|
|
NM_000548.5(TSC2):c.4164T>C (p.Ser1388=)
|
rs2151525515
|
|
NM_000548.5(TSC2):c.4167C>G (p.Pro1389=)
|
rs45508504
|
|
NM_000548.5(TSC2):c.4171C>T (p.Leu1391=)
|
rs1483287924
|
|
NM_000548.5(TSC2):c.4173G>A (p.Leu1391=)
|
|
|
NM_000548.5(TSC2):c.4179T>G (p.Thr1393=)
|
rs1555514101
|
|
NM_000548.5(TSC2):c.418C>T (p.Leu140=)
|
rs1555497657
|
|
NM_000548.5(TSC2):c.4194C>G (p.Leu1398=)
|
|
|
NM_000548.5(TSC2):c.4197G>A (p.Gly1399=)
|
rs2151527039
|
|
NM_000548.5(TSC2):c.4200C>T (p.Asp1400=)
|
rs758897944
|
|
NM_000548.5(TSC2):c.4203T>C (p.Pro1401=)
|
rs893072428
|
|
NM_000548.5(TSC2):c.4206G>A (p.Gly1402=)
|
|
|
NM_000548.5(TSC2):c.4209C>T (p.Asp1403=)
|
rs1257841799
|
|
NM_000548.5(TSC2):c.420G>A (p.Leu140=)
|
rs876660078
|
|
NM_000548.5(TSC2):c.4212G>A (p.Lys1404=)
|
rs2090506660
|
|
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr)
|
rs147719291
|
|
NM_000548.5(TSC2):c.4224C>A (p.Gly1408=)
|
|
|
NM_000548.5(TSC2):c.4224C>T (p.Gly1408=)
|
rs1596416816
|
|
NM_000548.5(TSC2):c.4225C>G (p.Arg1409Gly)
|
rs45517333
|
|
NM_000548.5(TSC2):c.4227G>T (p.Arg1409=)
|
rs1555514188
|
|
NM_000548.5(TSC2):c.4228C>T (p.Leu1410=)
|
rs2151528481
|
|
NM_000548.5(TSC2):c.4233C>T (p.Ser1411=)
|
rs1060504090
|
|
NM_000548.5(TSC2):c.4239G>A (p.Glu1413=)
|
rs907082165
|
|
NM_000548.5(TSC2):c.423G>A (p.Glu141=)
|
|
|
NM_000548.5(TSC2):c.4248C>A (p.Ala1416=)
|
rs1393358018
|
|
NM_000548.5(TSC2):c.4248C>G (p.Ala1416=)
|
rs1393358018
|
|
NM_000548.5(TSC2):c.4249C>A (p.Arg1417=)
|
rs774338461
|
|
NM_000548.5(TSC2):c.4249C>T (p.Arg1417Trp)
|
rs774338461
|
|
NM_000548.5(TSC2):c.4251G>A (p.Arg1417=)
|
rs1455362130
|
|
NM_000548.5(TSC2):c.4257G>A (p.Gln1419=)
|
rs1403321543
|
|
NM_000548.5(TSC2):c.4260A>C (p.Ser1420=)
|
|
|
NM_000548.5(TSC2):c.4266C>T (p.Thr1422=)
|
|
|
NM_000548.5(TSC2):c.4267C>T (p.Leu1423=)
|
rs1484475537
|
|
NM_000548.5(TSC2):c.4284T>C (p.Ala1428=)
|
rs2151530962
|
|
NM_000548.5(TSC2):c.4287C>T (p.Ala1429=)
|
rs2151531120
|
|
NM_000548.5(TSC2):c.4296C>G (p.Ala1432=)
|
rs1555514284
|
|
NM_000548.5(TSC2):c.42G>A (p.Lys14=)
|
|
|
NM_000548.5(TSC2):c.4302C>G (p.Gly1434=)
|
|
|
NM_000548.5(TSC2):c.4308C>T (p.Asp1436=)
|
rs45517336
|
|
NM_000548.5(TSC2):c.4311T>C (p.Ser1437=)
|
|
|
NM_000548.5(TSC2):c.4314G>A (p.Arg1438=)
|
|
|
NM_000548.5(TSC2):c.4320G>A (p.Gln1440=)
|
rs2151532377
|
|
NM_000548.5(TSC2):c.4323C>G (p.Pro1441=)
|
rs536527623
|
|
NM_000548.5(TSC2):c.432G>A (p.Lys144=)
|
rs2085509615
|
|
NM_000548.5(TSC2):c.4335G>A (p.Leu1445=)
|
|
|
NM_000548.5(TSC2):c.4338T>C (p.Pro1446=)
|
|
|
NM_000548.5(TSC2):c.4341C>T (p.Ser1447=)
|
rs1060504117
|
|
NM_000548.5(TSC2):c.4347C>T (p.Ser1449=)
|
rs2151533587
|
|
NM_000548.5(TSC2):c.4350C>A (p.Pro1450=)
|
rs767996683
|
|
NM_000548.5(TSC2):c.4350C>T (p.Pro1450=)
|
rs767996683
|
|
NM_000548.5(TSC2):c.4351C>T (p.Arg1451Cys)
|
rs369553241
|
|
NM_000548.5(TSC2):c.4356G>T (p.Ser1452=)
|
rs779122170
|
|
NM_000548.5(TSC2):c.435C>T (p.Ala145=)
|
rs762200040
|
|
NM_000548.5(TSC2):c.4365C>T (p.Gly1455=)
|
rs2090527409
|
|
NM_000548.5(TSC2):c.4368C>G (p.Leu1456=)
|
|
|
NM_000548.5(TSC2):c.4368C>T (p.Leu1456=)
|
rs1555514397
|
|
NM_000548.5(TSC2):c.4371G>A (p.Arg1457=)
|
rs1596417989
|
|
NM_000548.5(TSC2):c.4375C>A (p.Arg1459=)
|
rs45517340
|
|
NM_000548.5(TSC2):c.4380T>G (p.Gly1460=)
|
rs2151534821
|
|
NM_000548.5(TSC2):c.4386C>A (p.Thr1462=)
|
rs2151534904
|
|
NM_000548.5(TSC2):c.4386C>T (p.Thr1462=)
|
|
|
NM_000548.5(TSC2):c.4389C>T (p.Ile1463=)
|
rs1555514425
|
|
NM_000548.5(TSC2):c.438C>T (p.Leu146=)
|
rs2151043440
|
|
NM_000548.5(TSC2):c.4395C>T (p.Asp1465=)
|
rs2151535121
|
|
NM_000548.5(TSC2):c.4401C>A (p.Ala1467=)
|
rs370735624
|
|
NM_000548.5(TSC2):c.4401C>G (p.Ala1467=)
|
rs370735624
|
|
NM_000548.5(TSC2):c.4404A>G (p.Pro1468=)
|
|
|
NM_000548.5(TSC2):c.4407A>G (p.Ser1469=)
|
rs1596418218
|
|
NM_000548.5(TSC2):c.4411A>C (p.Arg1471=)
|
|
|
NM_000548.5(TSC2):c.4413G>A (p.Arg1471=)
|
rs1596418285
|
|
NM_000548.5(TSC2):c.4416C>T (p.Gly1472=)
|
rs2090534289
|
|
NM_000548.5(TSC2):c.4420A>C (p.Arg1474=)
|
rs766719443
|
|
NM_000548.5(TSC2):c.4425A>G (p.Val1475=)
|
rs878854106
|
|
NM_000548.5(TSC2):c.4431G>A (p.Arg1477=)
|
rs76934857
|
|
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His)
|
rs45517343
|
|
NM_000548.5(TSC2):c.4437C>T (p.Ala1479=)
|
rs2151536553
|
|
NM_000548.5(TSC2):c.4449A>G (p.Arg1483=)
|
rs775115896
|
|
NM_000548.5(TSC2):c.444C>T (p.Asp148=)
|
rs767968378
|
|
NM_000548.5(TSC2):c.4452C>T (p.Ala1484=)
|
rs1555514573
|
|
NM_000548.5(TSC2):c.4455A>G (p.Thr1485=)
|
rs1555514579
|
|
NM_000548.5(TSC2):c.4461C>G (p.Ser1487=)
|
rs777104003
|
|
NM_000548.5(TSC2):c.4473A>G (p.Lys1491=)
|
rs1266546987
|
|
NM_000548.5(TSC2):c.4476G>A (p.Val1492=)
|
rs1596418854
|
|
NM_000548.5(TSC2):c.4476G>T (p.Val1492=)
|
rs1596418854
|
|
NM_000548.5(TSC2):c.4485C>T (p.Ile1495=)
|
rs1030218603
|
|
NM_000548.5(TSC2):c.4488C>T (p.Asn1496=)
|
rs2151538251
|
|
NM_000548.5(TSC2):c.4491C>T (p.Pro1497=)
|
rs955680135
|
|
NM_000548.5(TSC2):c.4493+10T>A
|
rs764108528
|
|
NM_000548.5(TSC2):c.4493+10T>C
|
rs764108528
|
|
NM_000548.5(TSC2):c.4493+10_4493+37del
|
rs2151538947
|
|
NM_000548.5(TSC2):c.4493+11T>G
|
|
|
NM_000548.5(TSC2):c.4493+12G>C
|
|
|
NM_000548.5(TSC2):c.4493+12_4493+15del
|
rs1555514698
|
|
NM_000548.5(TSC2):c.4493+13C>A
|
rs757183419
|
|
NM_000548.5(TSC2):c.4493+15T>C
|
rs2090547818
|
|
NM_000548.5(TSC2):c.4493+16_4493+17delinsGT
|
rs2151539107
|
|
NM_000548.5(TSC2):c.4493+19G>A
|
|
|
NM_000548.5(TSC2):c.4493+20G>A
|
rs2090548880
|
|
NM_000548.5(TSC2):c.4493+25_4493+47del
|
|
|
NM_000548.5(TSC2):c.4493+3G>A
|
rs1259786285
|
|
NM_000548.5(TSC2):c.4493+3_4493+4delinsAT
|
rs2151538673
|
|
NM_000548.5(TSC2):c.4493+7C>T
|
|
|
NM_000548.5(TSC2):c.4493+8T>A
|
rs2090546767
|
|
NM_000548.5(TSC2):c.4494-13C>T
|
rs981915272
|
|
NM_000548.5(TSC2):c.4494-14C>T
|
|
|
NM_000548.5(TSC2):c.4494-15C>G
|
rs993595235
|
|
NM_000548.5(TSC2):c.4494-17A>T
|
|
|
NM_000548.5(TSC2):c.4494-18C>T
|
|
|
NM_000548.5(TSC2):c.4494-20A>G
|
|
|
NM_000548.5(TSC2):c.4494-7T>C
|
rs1060504099
|
|
NM_000548.5(TSC2):c.4494-8C>T
|
rs2090576761
|
|
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met)
|
rs397515167
|
|
NM_000548.5(TSC2):c.4500G>C (p.Val1500=)
|
|
|
NM_000548.5(TSC2):c.4506G>A (p.Leu1502=)
|
rs1555514870
|
|
NM_000548.5(TSC2):c.4506G>C (p.Leu1502=)
|
rs1555514870
|
|
NM_000548.5(TSC2):c.4506G>T (p.Leu1502=)
|
rs1555514870
|
|
NM_000548.5(TSC2):c.4509G>A (p.Gln1503=)
|
rs45517349
|
|
NM_000548.5(TSC2):c.4512C>A (p.Leu1504=)
|
rs771595886
|
|
NM_000548.5(TSC2):c.4515C>T (p.Tyr1505=)
|
rs45471791
|
|
NM_000548.5(TSC2):c.4520C>A (p.Ser1507Tyr)
|
rs746246149
|
|
NM_000548.5(TSC2):c.4520C>T (p.Ser1507Phe)
|
rs746246149
|
|
NM_000548.5(TSC2):c.4524C>A (p.Pro1508=)
|
rs1596422510
|
|
NM_000548.5(TSC2):c.4524C>T (p.Pro1508=)
|
rs1596422510
|
|
NM_000548.5(TSC2):c.4530T>C (p.Phe1510=)
|
|
|
NM_000548.5(TSC2):c.453A>G (p.Arg151=)
|
rs2151043990
|
|
NM_000548.5(TSC2):c.4554C>T (p.Ile1518=)
|
rs1204199739
|
|
NM_000548.5(TSC2):c.4560G>A (p.Leu1520=)
|
|
|
NM_000548.5(TSC2):c.4560G>C (p.Leu1520=)
|
|
|
NM_000548.5(TSC2):c.4560G>T (p.Leu1520=)
|
rs1596423200
|
|
NM_000548.5(TSC2):c.4563C>A (p.Pro1521=)
|
rs989650743
|
|
NM_000548.5(TSC2):c.4563C>T (p.Pro1521=)
|
rs989650743
|
|
NM_000548.5(TSC2):c.4569+10G>A
|
rs2151545475
|
|
NM_000548.5(TSC2):c.4569+12C>G
|
rs45517350
|
|
NM_000548.5(TSC2):c.4569+14C>A
|
|
|
NM_000548.5(TSC2):c.4569+14C>T
|
|
|
NM_000548.5(TSC2):c.4569+15C>G
|
|
|
NM_000548.5(TSC2):c.4569+16C>A
|
|
|
NM_000548.5(TSC2):c.4569+17T>A
|
|
|
NM_000548.5(TSC2):c.4569+18C>G
|
|
|
NM_000548.5(TSC2):c.4569+19T>G
|
|
|
NM_000548.5(TSC2):c.4569+19_4569+20del
|
|
|
NM_000548.5(TSC2):c.4569+22_4569+28del
|
|
|
NM_000548.5(TSC2):c.4569+8T>C
|
|
|
NM_000548.5(TSC2):c.4569+9G>A
|
rs1596423506
|
|
NM_000548.5(TSC2):c.456C>T (p.His152=)
|
rs1596265401
|
|
NM_000548.5(TSC2):c.4570-11G>C
|
|
|
NM_000548.5(TSC2):c.4570-12TG[2]
|
|
|
NM_000548.5(TSC2):c.4570-13C>T
|
rs370549253
|
|
NM_000548.5(TSC2):c.4570-14T>C
|
rs2151549125
|
|
NM_000548.5(TSC2):c.4570-15C>T
|
rs766813076
|
|
NM_000548.5(TSC2):c.4570-16G>T
|
|
|
NM_000548.5(TSC2):c.4570-17G>A
|
rs1236463140
|
|
NM_000548.5(TSC2):c.4570-19dup
|
rs1567528162
|
|
NM_000548.5(TSC2):c.4570-20C>A
|
|
|
NM_000548.5(TSC2):c.4570-20C>G
|
|
|
NM_000548.5(TSC2):c.4570-23_4570-13del
|
rs1187880097
|
|
NM_000548.5(TSC2):c.4570-4A>G
|
|
|
NM_000548.5(TSC2):c.4570-5C>T
|
|
|
NM_000548.5(TSC2):c.4570-6C>T
|
|
|
NM_000548.5(TSC2):c.4570-9G>A
|
|
|
NM_000548.5(TSC2):c.4572A>G (p.Ser1524=)
|
|
|
NM_000548.5(TSC2):c.4575G>A (p.Gln1525=)
|
rs1596426497
|
|
NM_000548.5(TSC2):c.4584G>A (p.Glu1528=)
|
rs199848388
|
|
NM_000548.5(TSC2):c.4587G>A (p.Arg1529=)
|
rs2151550637
|
|
NM_000548.5(TSC2):c.4590G>C (p.Ser1530=)
|
rs377377367
|
|
NM_000548.5(TSC2):c.4596G>A (p.Gln1532=)
|
|
|
NM_000548.5(TSC2):c.4599C>A (p.Leu1533=)
|
rs768431568
|
|
NM_000548.5(TSC2):c.4602C>G (p.Leu1534=)
|
|
|
NM_000548.5(TSC2):c.4605C>T (p.Asp1535=)
|
rs1555515283
|
|
NM_000548.5(TSC2):c.4613C>A (p.Pro1538Gln)
|
rs753060862
|
|
NM_000548.5(TSC2):c.4623C>T (p.Asp1541=)
|
rs1555515315
|
|
NM_000548.5(TSC2):c.4626C>T (p.Thr1542=)
|
rs1164781795
|
|
NM_000548.5(TSC2):c.4629C>G (p.His1543Gln)
|
|
|
NM_000548.5(TSC2):c.462C>T (p.Thr154=)
|
rs2151044315
|
|
NM_000548.5(TSC2):c.4635C>A (p.Ile1545=)
|
|
|
NM_000548.5(TSC2):c.4641C>T (p.Val1547=)
|
rs1060504087
|
|
NM_000548.5(TSC2):c.4642C>T (p.Leu1548=)
|
|
|
NM_000548.5(TSC2):c.4644G>A (p.Leu1548=)
|
rs780071959
|
|
NM_000548.5(TSC2):c.4644G>T (p.Leu1548=)
|
rs780071959
|
|
NM_000548.5(TSC2):c.4647T>C (p.Tyr1549=)
|
rs397515028
|
|
NM_000548.5(TSC2):c.4650T>C (p.Val1550=)
|
rs1555515367
|
|
NM_000548.5(TSC2):c.4653A>G (p.Gly1551=)
|
rs2151553578
|
|
NM_000548.5(TSC2):c.4656A>G (p.Glu1552=)
|
rs878854110
|
|
NM_000548.5(TSC2):c.4659C>G (p.Gly1553=)
|
rs202212109
|
|
NM_000548.5(TSC2):c.4662+10C>A
|
rs371195832
|
|
NM_000548.5(TSC2):c.4662+11G>C
|
rs761569930
|
|
NM_000548.5(TSC2):c.4662+11G>T
|
|
|
NM_000548.5(TSC2):c.4662+13G>A
|
|
|
NM_000548.5(TSC2):c.4662+14G>A
|
|
|
NM_000548.5(TSC2):c.4662+14G>T
|
|
|
NM_000548.5(TSC2):c.4662+15C>T
|
|
|
NM_000548.5(TSC2):c.4662+16C>G
|
rs45517356
|
|
NM_000548.5(TSC2):c.4662+16del
|
rs2151554456
|
|
NM_000548.5(TSC2):c.4662+17G>C
|
rs45443002
|
|
NM_000548.5(TSC2):c.4662+17G>T
|
|
|
NM_000548.5(TSC2):c.4662+7C>A
|
rs1555515435
|
|
NM_000548.5(TSC2):c.4662+7C>T
|
rs1555515435
|
|
NM_000548.5(TSC2):c.4662+9G>A
|
rs2151554223
|
|
NM_000548.5(TSC2):c.4663-10C>T
|
rs766608928
|
|
NM_000548.5(TSC2):c.4663-11_4663-5del
|
rs760527750
|
|
NM_000548.5(TSC2):c.4663-12C>G
|
|
|
NM_000548.5(TSC2):c.4663-12C>T
|
|
|
NM_000548.5(TSC2):c.4663-13C>A
|
rs966007423
|
|
NM_000548.5(TSC2):c.4663-13C>T
|
|
|
NM_000548.5(TSC2):c.4663-14C>G
|
|
|
NM_000548.5(TSC2):c.4663-14_4663-10del
|
rs2151568538
|
|
NM_000548.5(TSC2):c.4663-15C>T
|
rs2090761880
|
|
NM_000548.5(TSC2):c.4663-16dup
|
rs2151568557
|
|
NM_000548.5(TSC2):c.4663-17C>T
|
|
|
NM_000548.5(TSC2):c.4663-19C>G
|
rs2090761236
|
|
NM_000548.5(TSC2):c.4663-19C>T
|
rs2090761236
|
|
NM_000548.5(TSC2):c.4663-20CCTCTCC[3]
|
rs760527750
|
|
NM_000548.5(TSC2):c.4663-26_4663-17del
|
rs2151568121
|
|
NM_000548.5(TSC2):c.4663-4A>G
|
|
|
NM_000548.5(TSC2):c.4663-4A>T
|
rs1596437939
|
|
NM_000548.5(TSC2):c.4663-8C>A
|
rs753947985
|
|
NM_000548.5(TSC2):c.4663-8C>T
|
rs753947985
|
|
NM_000548.5(TSC2):c.4663-9T>C
|
rs1596437808
|
|
NM_000548.5(TSC2):c.4663-9_4663-8del
|
rs1439192579
|
|
NM_000548.5(TSC2):c.4668C>T (p.Asn1556=)
|
|
|
NM_000548.5(TSC2):c.466T>C (p.Leu156=)
|
|
|
NM_000548.5(TSC2):c.4674G>A (p.Glu1558=)
|
rs2151569595
|
|
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr)
|
rs777539610
|
|
NM_000548.5(TSC2):c.4684C>T (p.Leu1562=)
|
rs1057523304
|
|
NM_000548.5(TSC2):c.4686G>A (p.Leu1562=)
|
|
|
NM_000548.5(TSC2):c.4689C>A (p.Ser1563=)
|
|
|
NM_000548.5(TSC2):c.4689C>G (p.Ser1563=)
|
rs45517363
|
|
NM_000548.5(TSC2):c.468G>A (p.Leu156=)
|
rs2085514413
|
|
NM_000548.5(TSC2):c.4701C>A (p.Gly1567=)
|
rs763804965
|
|
NM_000548.5(TSC2):c.4701C>G (p.Gly1567=)
|
rs763804965
|
|
NM_000548.5(TSC2):c.4701C>T (p.Gly1567=)
|
rs763804965
|
|
NM_000548.5(TSC2):c.4710G>A (p.Arg1570=)
|
rs1389060581
|
|
NM_000548.5(TSC2):c.4713C>T (p.Tyr1571=)
|
rs45517366
|
|
NM_000548.5(TSC2):c.4716G>T (p.Thr1572=)
|
rs369346726
|
|
NM_000548.5(TSC2):c.4722C>G (p.Phe1574Leu)
|
rs565576095
|
|
NM_000548.5(TSC2):c.4723C>T (p.Leu1575=)
|
rs2151571611
|
|
NM_000548.5(TSC2):c.4725G>C (p.Leu1575=)
|
rs1308764758
|
|
NM_000548.5(TSC2):c.4725G>T (p.Leu1575=)
|
rs1308764758
|
|
NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met)
|
rs45437192
|
|
NM_000548.5(TSC2):c.4728G>C (p.Thr1576=)
|
rs752642825
|
|
NM_000548.5(TSC2):c.4731C>T (p.Gly1577=)
|
|
|
NM_000548.5(TSC2):c.4732C>T (p.Leu1578=)
|
rs917807471
|
|
NM_000548.5(TSC2):c.4734G>C (p.Leu1578=)
|
rs1191993288
|
|
NM_000548.5(TSC2):c.4737C>A (p.Gly1579=)
|
rs2090776434
|
|
NM_000548.5(TSC2):c.4743C>T (p.Leu1581=)
|
|
|
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys)
|
rs886039446
|
|
NM_000548.5(TSC2):c.4749G>A (p.Glu1583=)
|
rs1257270850
|
|
NM_000548.5(TSC2):c.474A>G (p.Glu158=)
|
|
|
NM_000548.5(TSC2):c.4750C>T (p.Leu1584=)
|
rs2151572888
|
|
NM_000548.5(TSC2):c.4752G>A (p.Leu1584=)
|
rs1555516171
|
|
NM_000548.5(TSC2):c.4758C>T (p.Asp1586=)
|
|
|
NM_000548.5(TSC2):c.4764G>A (p.Gln1588=)
|
rs876659800
|
|
NM_000548.5(TSC2):c.4770C>T (p.Asp1590=)
|
rs1596439135
|
|
NM_000548.5(TSC2):c.4776G>A (p.Val1592=)
|
rs2151573973
|
|
NM_000548.5(TSC2):c.4780C>T (p.Leu1594=)
|
rs45511204
|
|
NM_000548.5(TSC2):c.4788C>G (p.Gly1596=)
|
rs1596439233
|
|
NM_000548.5(TSC2):c.4788C>T (p.Gly1596=)
|
rs1596439233
|
|
NM_000548.5(TSC2):c.4791G>A (p.Leu1597=)
|
|
|
NM_000548.5(TSC2):c.4791G>C (p.Leu1597=)
|
rs1060504112
|
|
NM_000548.5(TSC2):c.4806G>A (p.Glu1602=)
|
|
|
NM_000548.5(TSC2):c.481+10A>C
|
rs1196443311
|
|
NM_000548.5(TSC2):c.481+11C>G
|
|
|
NM_000548.5(TSC2):c.481+11C>T
|
rs975536162
|
|
NM_000548.5(TSC2):c.481+14T>C
|
|
|
NM_000548.5(TSC2):c.481+15G>A
|
|
|
NM_000548.5(TSC2):c.481+16G>C
|
|
|
NM_000548.5(TSC2):c.481+18T>C
|
|
|
NM_000548.5(TSC2):c.481+19T>G
|
|
|
NM_000548.5(TSC2):c.481+7G>T
|
rs752730339
|
|
NM_000548.5(TSC2):c.4815G>A (p.Gln1605=)
|
rs2151575480
|
|
NM_000548.5(TSC2):c.4818C>T (p.Phe1606=)
|
|
|
NM_000548.5(TSC2):c.482-11T>C
|
|
|
NM_000548.5(TSC2):c.482-13G>A
|
rs1221885368
|
|
NM_000548.5(TSC2):c.482-13G>C
|
rs1221885368
|
|
NM_000548.5(TSC2):c.482-13G>T
|
|
|
NM_000548.5(TSC2):c.482-18C>T
|
|
|
NM_000548.5(TSC2):c.482-20T>C
|
rs548831116
|
|
NM_000548.5(TSC2):c.482-20_482-15del
|
rs2151057828
|
|
NM_000548.5(TSC2):c.482-5C>T
|
rs397515071
|
|
NM_000548.5(TSC2):c.482-7C>T
|
|
|
NM_000548.5(TSC2):c.482-9C>G
|
rs1060504096
|
|
NM_000548.5(TSC2):c.4821C>G (p.Thr1607=)
|
rs2090786691
|
|
NM_000548.5(TSC2):c.4821C>T (p.Thr1607=)
|
rs2090786691
|
|
NM_000548.5(TSC2):c.4827C>T (p.Cys1609=)
|
rs1179490369
|
|
NM_000548.5(TSC2):c.4836T>C (p.Asp1612=)
|
rs2151576368
|
|
NM_000548.5(TSC2):c.4849+11G>C
|
|
|
NM_000548.5(TSC2):c.4849+14C>T
|
rs2090793588
|
|
NM_000548.5(TSC2):c.4849+15C>A
|
|
|
NM_000548.5(TSC2):c.4849+15C>T
|
|
|
NM_000548.5(TSC2):c.4849+18C>G
|
rs45517374
|
|
NM_000548.5(TSC2):c.4849+18_4849+19insGGT
|
|
|
NM_000548.5(TSC2):c.4849+19C>A
|
|
|
NM_000548.5(TSC2):c.4849+20C>T
|
rs140884776
|
|
NM_000548.5(TSC2):c.4849+20dup
|
rs761594826
|
|
NM_000548.5(TSC2):c.4849+7C>T
|
rs1257925008
|
|
NM_000548.5(TSC2):c.4849+7_4849+10del
|
rs1596439740
|
|
NM_000548.5(TSC2):c.4849+8C>T
|
rs1424021009
|
|
NM_000548.5(TSC2):c.4849+9T>C
|
|
|
NM_000548.5(TSC2):c.4850-14C>T
|
rs397515189
|
|
NM_000548.5(TSC2):c.4850-15C>G
|
rs373982002
|
|
NM_000548.5(TSC2):c.4850-15C>T
|
rs373982002
|
|
NM_000548.5(TSC2):c.4850-16C>A
|
|
|
NM_000548.5(TSC2):c.4850-16C>T
|
rs755747804
|
|
NM_000548.5(TSC2):c.4850-17G>A
|
|
|
NM_000548.5(TSC2):c.4850-19C>G
|
rs45517376
|
|
NM_000548.5(TSC2):c.4850-20C>G
|
|
|
NM_000548.5(TSC2):c.4850-3C>T
|
rs397514982
|
|
NM_000548.5(TSC2):c.4850-8A>C
|
rs372258482
|
|
NM_000548.5(TSC2):c.4850-9C>T
|
rs778560020
|
|
NM_000548.5(TSC2):c.4851C>G (p.Ala1617=)
|
|
|
NM_000548.5(TSC2):c.4854C>G (p.Val1618=)
|
rs45517378
|
|
NM_000548.5(TSC2):c.4857C>T (p.Phe1619=)
|
rs1596443022
|
|
NM_000548.5(TSC2):c.4866C>T (p.Ala1622=)
|
rs775723717
|
|
NM_000548.5(TSC2):c.4869C>G (p.Thr1623=)
|
rs150239180
|
|
NM_000548.5(TSC2):c.486C>T (p.Asp162=)
|
rs45473598
|
|
NM_000548.5(TSC2):c.4870C>T (p.Leu1624=)
|
rs786203263
|
|
NM_000548.5(TSC2):c.4872G>A (p.Leu1624=)
|
rs2151584763
|
|
NM_000548.5(TSC2):c.4881C>G (p.Thr1627=)
|
rs2151585189
|
|
NM_000548.5(TSC2):c.4890G>A (p.Val1630=)
|
rs2151585571
|
|
NM_000548.5(TSC2):c.4890G>C (p.Val1630=)
|
|
|
NM_000548.5(TSC2):c.4899C>T (p.His1633=)
|
rs1223963841
|
|
NM_000548.5(TSC2):c.48G>A (p.Lys16=)
|
|
|
NM_000548.5(TSC2):c.4917C>T (p.Arg1639=)
|
rs1057524144
|
|
NM_000548.5(TSC2):c.4920C>T (p.His1640=)
|
rs1555438576
|
|
NM_000548.5(TSC2):c.4921C>T (p.Leu1641=)
|
rs1343423120
|
|
NM_000548.5(TSC2):c.4932C>T (p.Asp1644=)
|
rs1395198412
|
|
NM_000548.5(TSC2):c.4938G>A (p.Val1646=)
|
|
|
NM_000548.5(TSC2):c.4947C>G (p.Val1649=)
|
rs778989782
|
|
NM_000548.5(TSC2):c.4947C>T (p.Val1649=)
|
rs778989782
|
|
NM_000548.5(TSC2):c.4953T>C (p.Asn1651=)
|
rs2151588360
|
|
NM_000548.5(TSC2):c.4959C>G (p.Ser1653=)
|
rs45517384
|
|
NM_000548.5(TSC2):c.495G>A (p.Leu165=)
|
rs2151058683
|
|
NM_000548.5(TSC2):c.4971C>T (p.Phe1657=)
|
rs1596444029
|
|
NM_000548.5(TSC2):c.4974G>A (p.Lys1658=)
|
rs45511393
|
|
NM_000548.5(TSC2):c.4980C>T (p.Gly1660=)
|
rs2090869322
|
|
NM_000548.5(TSC2):c.4982C>A (p.Thr1661Asn)
|
rs776541842
|
|
NM_000548.5(TSC2):c.4989+10G>A
|
|
|
NM_000548.5(TSC2):c.4989+10G>C
|
rs1357118862
|
|
NM_000548.5(TSC2):c.4989+13C>T
|
|
|
NM_000548.5(TSC2):c.4989+15G>C
|
|
|
NM_000548.5(TSC2):c.4989+17C>T
|
|
|
NM_000548.5(TSC2):c.4989+18_4989+19insTGGTGAGTGAGGGGCCGTCA
|
|
|
NM_000548.5(TSC2):c.4989+18dup
|
|
|
NM_000548.5(TSC2):c.4989+19G>T
|
|
|
NM_000548.5(TSC2):c.4989+20T>C
|
|
|
NM_000548.5(TSC2):c.4989+20_4989+23del
|
rs755266040
|
|
NM_000548.5(TSC2):c.4989+7G>C
|
rs1460236999
|
|
NM_000548.5(TSC2):c.4989+7G>T
|
rs1460236999
|
|
NM_000548.5(TSC2):c.4989+8_4989+9del
|
rs1567125027
|
|
NM_000548.5(TSC2):c.4989+9G>A
|
|
|
NM_000548.5(TSC2):c.4989+9G>C
|
rs1332919495
|
|
NM_000548.5(TSC2):c.4990-10G>A
|
rs751012275
|
|
NM_000548.5(TSC2):c.4990-10G>T
|
|
|
NM_000548.5(TSC2):c.4990-12T>A
|
|
|
NM_000548.5(TSC2):c.4990-12T>C
|
rs2151610559
|
|
NM_000548.5(TSC2):c.4990-14T>C
|
|
|
NM_000548.5(TSC2):c.4990-15C>A
|
|
|
NM_000548.5(TSC2):c.4990-15C>G
|
|
|
NM_000548.5(TSC2):c.4990-16T>C
|
|
|
NM_000548.5(TSC2):c.4990-17T>C
|
rs1455146146
|
|
NM_000548.5(TSC2):c.4990-19C>G
|
rs1244495150
|
|
NM_000548.5(TSC2):c.4990-19C>T
|
|
|
NM_000548.5(TSC2):c.4990-5G>C
|
rs753000765
|
|
NM_000548.5(TSC2):c.4990-5G>T
|
rs753000765
|
|
NM_000548.5(TSC2):c.4990-6G>A
|
rs137853987
|
|
NM_000548.5(TSC2):c.4990-6G>C
|
rs137853987
|
|
NM_000548.5(TSC2):c.4990-6G>T
|
rs137853987
|
|
NM_000548.5(TSC2):c.4990-7dup
|
rs1555439636
|
|
NM_000548.5(TSC2):c.4990-8C>T
|
rs766834252
|
|
NM_000548.5(TSC2):c.4990-9T>C
|
rs1596454615
|
|
NM_000548.5(TSC2):c.4990-9del
|
rs1555439631
|
|
NM_000548.5(TSC2):c.4992C>T (p.Gly1664=)
|
rs145002269
|
|
NM_000548.5(TSC2):c.4994A>G (p.Gln1665Arg)
|
rs747018176
|
|
NM_000548.5(TSC2):c.4998C>G (p.Phe1666Leu)
|
rs757221445
|
|
NM_000548.5(TSC2):c.5000A>G (p.Asn1667Ser)
|
rs1237105821
|
|
NM_000548.5(TSC2):c.5019C>T (p.Val1673=)
|
rs374149407
|
|
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys)
|
rs755728007
|
|
NM_000548.5(TSC2):c.5022C>G (p.Thr1674=)
|
rs777184691
|
|
NM_000548.5(TSC2):c.5025G>C (p.Pro1675=)
|
|
|
NM_000548.5(TSC2):c.5043C>T (p.Asn1681=)
|
rs45476793
|
|
NM_000548.5(TSC2):c.5044C>T (p.Leu1682=)
|
rs1336904838
|
|
NM_000548.5(TSC2):c.5046G>A (p.Leu1682=)
|
rs781417654
|
|
NM_000548.5(TSC2):c.5049G>A (p.Val1683=)
|
rs1256890176
|
|
NM_000548.5(TSC2):c.5049G>C (p.Val1683=)
|
|
|
NM_000548.5(TSC2):c.5052C>A (p.Ser1684=)
|
rs1596455470
|
|
NM_000548.5(TSC2):c.5052C>T (p.Ser1684=)
|
rs1596455470
|
|
NM_000548.5(TSC2):c.5053C>T (p.Leu1685=)
|
rs2151614096
|
|
NM_000548.5(TSC2):c.5055G>A (p.Leu1685=)
|
|
|
NM_000548.5(TSC2):c.5062A>C (p.Arg1688=)
|
|
|
NM_000548.5(TSC2):c.5065_5068+7dup
|
rs2091058869
|
|
NM_000548.5(TSC2):c.5068+11G>C
|
|
|
NM_000548.5(TSC2):c.5068+12dup
|
|
|
NM_000548.5(TSC2):c.5068+15G>A
|
|
|
NM_000548.5(TSC2):c.5068+16G>A
|
rs2151615600
|
|
NM_000548.5(TSC2):c.5068+17C>A
|
rs1460592433
|
|
NM_000548.5(TSC2):c.5068+17_5068+49del
|
rs771294168
|
|
NM_000548.5(TSC2):c.5068+18C>G
|
rs1036320970
|
|
NM_000548.5(TSC2):c.5068+19C>G
|
rs2151615751
|
|
NM_000548.5(TSC2):c.5068+19C>T
|
|
|
NM_000548.5(TSC2):c.5068+19del
|
rs2091063774
|
|
NM_000548.5(TSC2):c.5068+8C>G
|
rs747827911
|
|
NM_000548.5(TSC2):c.5068+9G>T
|
|
|
NM_000548.5(TSC2):c.5069-10G>A
|
|
|
NM_000548.5(TSC2):c.5069-10G>C
|
rs1409032179
|
|
NM_000548.5(TSC2):c.5069-12A>G
|
|
|
NM_000548.5(TSC2):c.5069-13C>G
|
|
|
NM_000548.5(TSC2):c.5069-13C>T
|
rs542607400
|
|
NM_000548.5(TSC2):c.5069-14C>A
|
|
|
NM_000548.5(TSC2):c.5069-14_5069-11del
|
rs760617977
|
|
NM_000548.5(TSC2):c.5069-14_5069-12del
|
rs397514923
|
|
NM_000548.5(TSC2):c.5069-16C>T
|
|
|
NM_000548.5(TSC2):c.5069-17C>T
|
|
|
NM_000548.5(TSC2):c.5069-19G>A
|
|
|
NM_000548.5(TSC2):c.5069-19G>T
|
|
|
NM_000548.5(TSC2):c.5069-4C>T
|
rs1555440004
|
|
NM_000548.5(TSC2):c.5069-6C>T
|
rs1212112210
|
|
NM_000548.5(TSC2):c.5069-8C>A
|
rs796053478
|
|
NM_000548.5(TSC2):c.5069-8C>G
|
rs796053478
|
|
NM_000548.5(TSC2):c.5070C>T (p.Asp1690=)
|
rs1596457380
|
|
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr)
|
rs397515110
|
|
NM_000548.5(TSC2):c.5076G>A (p.Glu1692=)
|
rs1358186613
|
|
NM_000548.5(TSC2):c.5079C>G (p.Gly1693=)
|
|
|
NM_000548.5(TSC2):c.507T>C (p.Asp169=)
|
|
|
NM_000548.5(TSC2):c.5082T>C (p.Leu1694=)
|
rs2151620148
|
|
NM_000548.5(TSC2):c.5085G>A (p.Val1695=)
|
rs2151620310
|
|
NM_000548.5(TSC2):c.5097G>T (p.Val1699=)
|
|
|
NM_000548.5(TSC2):c.5100C>G (p.Ala1700=)
|
rs1172938826
|
|
NM_000548.5(TSC2):c.5100C>T (p.Ala1700=)
|
rs1172938826
|
|
NM_000548.5(TSC2):c.5103G>A (p.Lys1701=)
|
rs768476974
|
|
NM_000548.5(TSC2):c.5109G>C (p.Val1703=)
|
rs770413433
|
|
NM_000548.5(TSC2):c.5118C>T (p.Arg1706=)
|
rs397515079
|
|
NM_000548.5(TSC2):c.5124G>A (p.Leu1708=)
|
rs2151622005
|
|
NM_000548.5(TSC2):c.5127C>A (p.Pro1709=)
|
rs200162473
|
|
NM_000548.5(TSC2):c.5127C>T (p.Pro1709=)
|
rs200162473
|
|
NM_000548.5(TSC2):c.5136C>T (p.Ala1712=)
|
rs878854114
|
|
NM_000548.5(TSC2):c.5139C>A (p.Arg1713=)
|
|
|
NM_000548.5(TSC2):c.5139C>T (p.Arg1713=)
|
|
|
NM_000548.5(TSC2):c.5148C>T (p.Ala1716=)
|
rs45482604
|
|
NM_000548.5(TSC2):c.5149C>T (p.Leu1717=)
|
rs1555440199
|
|
NM_000548.5(TSC2):c.5157A>C (p.Ala1719=)
|
rs1555440217
|
|
NM_000548.5(TSC2):c.5157A>G (p.Ala1719=)
|
|
|
NM_000548.5(TSC2):c.5160+11G>A
|
rs374737278
|
|
NM_000548.5(TSC2):c.5160+11G>C
|
rs374737278
|
|
NM_000548.5(TSC2):c.5160+11dup
|
rs137854048
|
|
NM_000548.5(TSC2):c.5160+12T>G
|
|
|
NM_000548.5(TSC2):c.5160+14G>A
|
rs1225889890
|
|
NM_000548.5(TSC2):c.5160+16_5160+43dup
|
|
|
NM_000548.5(TSC2):c.5160+17C>A
|
|
|
NM_000548.5(TSC2):c.5160+17C>G
|
rs2151624592
|
|
NM_000548.5(TSC2):c.5160+18C>T
|
|
|
NM_000548.5(TSC2):c.5160+19A>G
|
|
|
NM_000548.5(TSC2):c.5160+20G>A
|
|
|
NM_000548.5(TSC2):c.5160+20G>T
|
|
|
NM_000548.5(TSC2):c.5160+4_5160+7dup
|
rs1567130394
|
|
NM_000548.5(TSC2):c.5160+6_5160+8dup
|
|
|
NM_000548.5(TSC2):c.5160+7G>A
|
rs45506600
|
|
NM_000548.5(TSC2):c.5160+7G>T
|
rs45506600
|
|
NM_000548.5(TSC2):c.5160+8G>A
|
|
|
NM_000548.5(TSC2):c.5160+8G>C
|
rs2151624247
|
|
NM_000548.5(TSC2):c.5160+9G>C
|
|
|
NM_000548.5(TSC2):c.5160+9G>T
|
rs1445593661
|
|
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_5161-9delinsCT
|
rs1596459629
|
|
NM_000548.5(TSC2):c.5161-12C>T
|
rs1555440351
|
|
NM_000548.5(TSC2):c.5161-13C>T
|
|
|
NM_000548.5(TSC2):c.5161-14G>A
|
|
|
NM_000548.5(TSC2):c.5161-14G>T
|
rs2151626974
|
|
NM_000548.5(TSC2):c.5161-14_5161-11dup
|
|
|
NM_000548.5(TSC2):c.5161-15T>C
|
rs397515279
|
|
NM_000548.5(TSC2):c.5161-15del
|
|
|
NM_000548.5(TSC2):c.5161-16C>T
|
rs2151626858
|
|
NM_000548.5(TSC2):c.5161-16_5161-15del
|
rs1260314271
|
|
NM_000548.5(TSC2):c.5161-17C>G
|
|
|
NM_000548.5(TSC2):c.5161-17C>T
|
rs1256554136
|
|
NM_000548.5(TSC2):c.5161-18C>G
|
|
|
NM_000548.5(TSC2):c.5161-19C>A
|
|
|
NM_000548.5(TSC2):c.5161-19C>T
|
|
|
NM_000548.5(TSC2):c.5161-20C>G
|
rs200315428
|
|
NM_000548.5(TSC2):c.5161-3del
|
rs2151627398
|
|
NM_000548.5(TSC2):c.5161-4C>A
|
rs45517406
|
|
NM_000548.5(TSC2):c.5161-5C>G
|
rs775534948
|
|
NM_000548.5(TSC2):c.5161-5C>T
|
rs775534948
|
|
NM_000548.5(TSC2):c.5161-6C>G
|
|
|
NM_000548.5(TSC2):c.5161-8G>C
|
rs374674097
|
|
NM_000548.5(TSC2):c.5161-8G>T
|
rs374674097
|
|
NM_000548.5(TSC2):c.5169A>G (p.Ser1723=)
|
rs1567131059
|
|
NM_000548.5(TSC2):c.5175G>A (p.Val1725=)
|
rs886038357
|
|
NM_000548.5(TSC2):c.5187C>G (p.Arg1729=)
|
rs2091133958
|
|
NM_000548.5(TSC2):c.5187C>T (p.Arg1729=)
|
rs2091133958
|
|
NM_000548.5(TSC2):c.5190C>A (p.Ser1730=)
|
rs1305025066
|
|
NM_000548.5(TSC2):c.5199C>G (p.Thr1733=)
|
|
|
NM_000548.5(TSC2):c.519C>G (p.Ser173=)
|
|
|
NM_000548.5(TSC2):c.51T>C (p.Ile17=)
|
rs2150971085
|
|
NM_000548.5(TSC2):c.5207A>C (p.Tyr1736Ser)
|
rs746160626
|
|
NM_000548.5(TSC2):c.5207A>G (p.Tyr1736Cys)
|
|
|
NM_000548.5(TSC2):c.5211C>T (p.Pro1737=)
|
rs151298910
|
|
NM_000548.5(TSC2):c.5214C>A (p.Ser1738=)
|
rs761621735
|
|
NM_000548.5(TSC2):c.5214C>G (p.Ser1738=)
|
rs761621735
|
|
NM_000548.5(TSC2):c.5214C>T (p.Ser1738=)
|
rs761621735
|
|
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser)
|
rs137854219
|
|
NM_000548.5(TSC2):c.5226C>G (p.Ala1742=)
|
|
|
NM_000548.5(TSC2):c.5226C>T (p.Ala1742=)
|
|
|
NM_000548.5(TSC2):c.522G>A (p.Ser174=)
|
rs2085660429
|
|
NM_000548.5(TSC2):c.522G>C (p.Ser174=)
|
rs2085660429
|
|
NM_000548.5(TSC2):c.5232C>G (p.Leu1744=)
|
|
|
NM_000548.5(TSC2):c.5241C>A (p.Ile1747=)
|
|
|
NM_000548.5(TSC2):c.5247G>A (p.Arg1749=)
|
rs2151632398
|
|
NM_000548.5(TSC2):c.5250C>A (p.Leu1750=)
|
rs370353005
|
|
NM_000548.5(TSC2):c.5250C>T (p.Leu1750=)
|
|
|
NM_000548.5(TSC2):c.5253C>T (p.Arg1751=)
|
rs1567132521
|
|
NM_000548.5(TSC2):c.5256G>A (p.Gln1752=)
|
|
|
NM_000548.5(TSC2):c.5257C>A (p.Arg1753=)
|
rs756358402
|
|
NM_000548.5(TSC2):c.5257C>T (p.Arg1753Trp)
|
rs756358402
|
|
NM_000548.5(TSC2):c.5259+10A>G
|
rs200725584
|
|
NM_000548.5(TSC2):c.5259+11T>C
|
|
|
NM_000548.5(TSC2):c.5259+12G>A
|
|
|
NM_000548.5(TSC2):c.5259+14G>C
|
|
|
NM_000548.5(TSC2):c.5259+16C>A
|
|
|
NM_000548.5(TSC2):c.5259+16C>T
|
|
|
NM_000548.5(TSC2):c.5259+17T>C
|
rs2091158241
|
|
NM_000548.5(TSC2):c.5259+18C>G
|
|
|
NM_000548.5(TSC2):c.5259+18C>T
|
rs1469369674
|
|
NM_000548.5(TSC2):c.5259+20C>G
|
|
|
NM_000548.5(TSC2):c.5259+20C>T
|
rs879247127
|
|
NM_000548.5(TSC2):c.5259+7A>G
|
rs1060504122
|
|
NM_000548.5(TSC2):c.5259+8A>C
|
rs912835683
|
|
NM_000548.5(TSC2):c.5259+8A>G
|
rs912835683
|
|
NM_000548.5(TSC2):c.525A>G (p.Glu175=)
|
rs1173197942
|
|
NM_000548.5(TSC2):c.5260-10C>G
|
rs2091183190
|
|
NM_000548.5(TSC2):c.5260-10C>T
|
rs2091183190
|
|
NM_000548.5(TSC2):c.5260-13C>A
|
rs1413775764
|
|
NM_000548.5(TSC2):c.5260-14G>T
|
rs745529697
|
|
NM_000548.5(TSC2):c.5260-16C>G
|
|
|
NM_000548.5(TSC2):c.5260-16C>T
|
|
|
NM_000548.5(TSC2):c.5260-17G>A
|
rs1476456008
|
|
NM_000548.5(TSC2):c.5260-5T>C
|
|
|
NM_000548.5(TSC2):c.5260-6C>T
|
|
|
NM_000548.5(TSC2):c.5260-7C>T
|
rs1596462958
|
|
NM_000548.5(TSC2):c.5260-8G>A
|
|
|
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.5268G>A (p.Glu1756=)
|
rs755229386
|
|
NM_000548.5(TSC2):c.5274C>A (p.Ala1758=)
|
|
|
NM_000548.5(TSC2):c.5277C>G (p.Ala1759=)
|
rs2151638252
|
|
NM_000548.5(TSC2):c.5277C>T (p.Ala1759=)
|
rs2151638252
|
|
NM_000548.5(TSC2):c.5280C>T (p.Tyr1760=)
|
rs1555441203
|
|
NM_000548.5(TSC2):c.5286C>T (p.Asn1762=)
|
rs757204634
|
|
NM_000548.5(TSC2):c.528C>T (p.Phe176=)
|
|
|
NM_000548.5(TSC2):c.5293C>T (p.Leu1765=)
|
rs1060500954
|
|
NM_000548.5(TSC2):c.5295A>C (p.Leu1765=)
|
|
|
NM_000548.5(TSC2):c.5295A>G (p.Leu1765=)
|
rs2151638899
|
|
NM_000548.5(TSC2):c.5298T>A (p.Pro1766=)
|
rs2151638999
|
|
NM_000548.5(TSC2):c.5299C>T (p.Leu1767=)
|
rs1051758
|
|
NM_000548.5(TSC2):c.52C>T (p.Leu18=)
|
rs1596234078
|
|
NM_000548.5(TSC2):c.5301G>A (p.Leu1767=)
|
|
|
NM_000548.5(TSC2):c.5301G>C (p.Leu1767=)
|
rs886051798
|
|
NM_000548.5(TSC2):c.5304G>A (p.Val1768=)
|
rs1596463459
|
|
NM_000548.5(TSC2):c.5313G>C (p.Pro1771=)
|
rs765607686
|
|
NM_000548.5(TSC2):c.5316C>G (p.Ser1772=)
|
rs2151639594
|
|
NM_000548.5(TSC2):c.5322C>T (p.Ser1774=)
|
rs751622894
|
|
NM_000548.5(TSC2):c.5328C>G (p.Ala1776=)
|
rs757292336
|
|
NM_000548.5(TSC2):c.5340T>A (p.Thr1780=)
|
rs1455248686
|
|
NM_000548.5(TSC2):c.5340T>G (p.Thr1780=)
|
rs1455248686
|
|
NM_000548.5(TSC2):c.5346C>A (p.Ala1782=)
|
rs557200243
|
|
NM_000548.5(TSC2):c.5349G>A (p.Glu1783=)
|
rs2151640927
|
|
NM_000548.5(TSC2):c.5352C>A (p.Pro1784=)
|
rs1367848310
|
|
NM_000548.5(TSC2):c.5352C>T (p.Pro1784=)
|
rs1367848310
|
|
NM_000548.5(TSC2):c.5355A>G (p.Thr1785=)
|
rs1057522896
|
|
NM_000548.5(TSC2):c.5358T>C (p.Pro1786=)
|
rs1230726900
|
|
NM_000548.5(TSC2):c.5361C>A (p.Gly1787=)
|
rs1334165353
|
|
NM_000548.5(TSC2):c.5361C>T (p.Gly1787=)
|
rs1334165353
|
|
NM_000548.5(TSC2):c.5367G>A (p.Glu1789=)
|
rs966695764
|
|
NM_000548.5(TSC2):c.5370G>A (p.Val1790=)
|
rs762032752
|
|
NM_000548.5(TSC2):c.5373C>G (p.Gly1791=)
|
rs1555441528
|
|
NM_000548.5(TSC2):c.5373C>T (p.Gly1791=)
|
|
|
NM_000548.5(TSC2):c.537G>A (p.Val179=)
|
rs2151059968
|
|
NM_000548.5(TSC2):c.5385C>A (p.Arg1795=)
|
|
|
NM_000548.5(TSC2):c.5388C>T (p.Leu1796=)
|
rs1412229429
|
|
NM_000548.5(TSC2):c.5391C>T (p.Ile1797=)
|
rs571792728
|
|
NM_000548.5(TSC2):c.5391CTC[1] (p.Ser1799del)
|
rs796053480
|
|
NM_000548.5(TSC2):c.5394C>T (p.Ser1798=)
|
rs2151642575
|
|
NM_000548.5(TSC2):c.5395_5397del (p.Ser1799del)
|
rs2151642647
|
|
NM_000548.5(TSC2):c.5397G>T (p.Ser1799=)
|
rs1051771
|
|
NM_000548.5(TSC2):c.5400G>A (p.Val1800=)
|
rs777327091
|
|
NM_000548.5(TSC2):c.5403G>A (p.Glu1801=)
|
rs1060500918
|
|
NM_000548.5(TSC2):c.5409C>T (p.Phe1803=)
|
rs770270816
|
|
NM_000548.5(TSC2):c.540G>T (p.Leu180=)
|
|
|
NM_000548.5(TSC2):c.5412C>A (p.Thr1804=)
|
rs397515252
|
|
NM_000548.5(TSC2):c.5412C>G (p.Thr1804=)
|
|
|
NM_000548.5(TSC2):c.5421G>A (p.Val1807=)
|
rs1596464773
|
|
NM_000548.5(TSC2):c.5421G>T (p.Val1807=)
|
|
|
NM_000548.5(TSC2):c.546C>T (p.Asn182=)
|
rs2085665682
|
|
NM_000548.5(TSC2):c.54G>A (p.Leu18=)
|
rs2150971145
|
|
NM_000548.5(TSC2):c.54G>C (p.Leu18=)
|
rs2150971145
|
|
NM_000548.5(TSC2):c.54G>T (p.Leu18=)
|
rs2150971145
|
|
NM_000548.5(TSC2):c.552C>G (p.Val184=)
|
|
|
NM_000548.5(TSC2):c.55T>C (p.Leu19=)
|
rs2150971171
|
|
NM_000548.5(TSC2):c.561T>C (p.Asn187=)
|
|
|
NM_000548.5(TSC2):c.564C>T (p.Ser188=)
|
rs2151060790
|
|
NM_000548.5(TSC2):c.570C>T (p.Tyr190=)
|
rs397515099
|
|
NM_000548.5(TSC2):c.573C>G (p.Leu191=)
|
rs397515059
|
|
NM_000548.5(TSC2):c.582C>T (p.Tyr194=)
|
rs750174170
|
|
NM_000548.5(TSC2):c.599+10G>T
|
rs1037449903
|
|
NM_000548.5(TSC2):c.599+10_599+12del
|
rs2151062256
|
|
NM_000548.5(TSC2):c.599+11A>C
|
|
|
NM_000548.5(TSC2):c.599+13T>C
|
|
|
NM_000548.5(TSC2):c.599+14T>A
|
|
|
NM_000548.5(TSC2):c.599+15G>T
|
|
|
NM_000548.5(TSC2):c.599+17_599+18insGGCCGGGCGCGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAAGAATTGAG
|
|
|
NM_000548.5(TSC2):c.599+20C>T
|
|
|
NM_000548.5(TSC2):c.599+7A>G
|
|
|
NM_000548.5(TSC2):c.599+8A>G
|
rs2151062239
|
|
NM_000548.5(TSC2):c.600-10C>T
|
rs1555498511
|
|
NM_000548.5(TSC2):c.600-14G>T
|
|
|
NM_000548.5(TSC2):c.600-15C>A
|
rs369708731
|
|
NM_000548.5(TSC2):c.600-16T>C
|
|
|
NM_000548.5(TSC2):c.600-18G>C
|
rs199683502
|
|
NM_000548.5(TSC2):c.600-4G>A
|
|
|
NM_000548.5(TSC2):c.600-4G>T
|
rs976201466
|
|
NM_000548.5(TSC2):c.600-5T>C
|
rs779176291
|
|
NM_000548.5(TSC2):c.600-7C>T
|
rs2151070585
|
|
NM_000548.5(TSC2):c.600-9T>C
|
|
|
NM_000548.5(TSC2):c.606C>T (p.Ile202=)
|
rs2151070786
|
|
NM_000548.5(TSC2):c.609T>C (p.Cys203=)
|
rs1596275256
|
|
NM_000548.5(TSC2):c.60A>C (p.Gly20=)
|
rs1060504108
|
|
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.612G>C (p.Leu204=)
|
|
|
NM_000548.5(TSC2):c.613C>T (p.Leu205=)
|
rs1596275276
|
|
NM_000548.5(TSC2):c.615G>A (p.Leu205=)
|
rs1596275291
|
|
NM_000548.5(TSC2):c.615G>C (p.Leu205=)
|
rs1596275291
|
|
NM_000548.5(TSC2):c.622C>A (p.Arg208=)
|
rs374410454
|
|
NM_000548.5(TSC2):c.624G>A (p.Arg208=)
|
|
|
NM_000548.5(TSC2):c.630G>C (p.Ala210=)
|
rs567756494
|
|
NM_000548.5(TSC2):c.633C>G (p.Ser211=)
|
rs762659998
|
|
NM_000548.5(TSC2):c.633C>T (p.Ser211=)
|
rs762659998
|
|
NM_000548.5(TSC2):c.636T>C (p.Ser212=)
|
rs2151071330
|
|
NM_000548.5(TSC2):c.639G>A (p.Val213=)
|
|
|
NM_000548.5(TSC2):c.648+10T>C
|
rs2151071693
|
|
NM_000548.5(TSC2):c.648+11C>G
|
rs371896390
|
|
NM_000548.5(TSC2):c.648+11C>T
|
|
|
NM_000548.5(TSC2):c.648+12C>A
|
rs2151071734
|
|
NM_000548.5(TSC2):c.648+12C>T
|
|
|
NM_000548.5(TSC2):c.648+13C>A
|
rs2151071760
|
|
NM_000548.5(TSC2):c.648+13C>T
|
rs2151071760
|
|
NM_000548.5(TSC2):c.648+17C>T
|
|
|
NM_000548.5(TSC2):c.648+18C>T
|
rs2151071875
|
|
NM_000548.5(TSC2):c.648+19C>G
|
rs1196860918
|
|
NM_000548.5(TSC2):c.648+20A>C
|
|
|
NM_000548.5(TSC2):c.648+7G>C
|
rs1216419213
|
|
NM_000548.5(TSC2):c.648+7G>T
|
rs1216419213
|
|
NM_000548.5(TSC2):c.648+8C>G
|
|
|
NM_000548.5(TSC2):c.648+8C>T
|
|
|
NM_000548.5(TSC2):c.648+9C>G
|
rs756588732
|
|
NM_000548.5(TSC2):c.649-11C>G
|
rs1254475243
|
|
NM_000548.5(TSC2):c.649-13C>T
|
rs1290261668
|
|
NM_000548.5(TSC2):c.649-15C>G
|
|
|
NM_000548.5(TSC2):c.649-16T>C
|
rs1417361912
|
|
NM_000548.5(TSC2):c.649-18C>A
|
rs771537061
|
|
NM_000548.5(TSC2):c.649-20G>T
|
rs377558380
|
|
NM_000548.5(TSC2):c.649-3dup
|
|
|
NM_000548.5(TSC2):c.649-4C>T
|
rs1329743344
|
|
NM_000548.5(TSC2):c.649-5A>T
|
rs1555498745
|
|
NM_000548.5(TSC2):c.649-64_649-17del
|
|
|
NM_000548.5(TSC2):c.649-6C>T
|
rs1323228446
|
|
NM_000548.5(TSC2):c.649-9C>T
|
rs781099543
|
|
NM_000548.5(TSC2):c.651C>A (p.Val217=)
|
rs780004703
|
|
NM_000548.5(TSC2):c.651C>T (p.Val217=)
|
|
|
NM_000548.5(TSC2):c.664C>T (p.Leu222=)
|
rs2151077923
|
|
NM_000548.5(TSC2):c.670G>A (p.Ala224Thr)
|
rs772558666
|
|
NM_000548.5(TSC2):c.675G>A (p.Val225=)
|
rs2085881355
|
|
NM_000548.5(TSC2):c.678C>T (p.Val226=)
|
rs2151078413
|
|
NM_000548.5(TSC2):c.684C>T (p.Tyr228=)
|
rs397515034
|
|
NM_000548.5(TSC2):c.687C>T (p.Asn229=)
|
rs1555498802
|
|
NM_000548.5(TSC2):c.699T>C (p.Ala233=)
|
rs1596278327
|
|
NM_000548.5(TSC2):c.699T>G (p.Ala233=)
|
rs1596278327
|
|
NM_000548.5(TSC2):c.6C>G (p.Ala2=)
|
|
|
NM_000548.5(TSC2):c.712C>T (p.Leu238=)
|
rs1287428578
|
|
NM_000548.5(TSC2):c.717C>T (p.Phe239=)
|
rs1567408727
|
|
NM_000548.5(TSC2):c.723T>G (p.Val241=)
|
|
|
NM_000548.5(TSC2):c.729C>T (p.Leu243=)
|
rs45473698
|
|
NM_000548.5(TSC2):c.72G>C (p.Pro24=)
|
rs754121475
|
|
NM_000548.5(TSC2):c.741C>T (p.Ile247=)
|
rs2151080723
|
|
NM_000548.5(TSC2):c.747C>T (p.Val249=)
|
|
|
NM_000548.5(TSC2):c.750G>A (p.Lys250=)
|
|
|
NM_000548.5(TSC2):c.756C>T (p.Leu252=)
|
rs1026303888
|
|
NM_000548.5(TSC2):c.75G>A (p.Arg25=)
|
rs2150971828
|
|
NM_000548.5(TSC2):c.762G>A (p.Glu254=)
|
rs2151081395
|
|
NM_000548.5(TSC2):c.774+12G>C
|
|
|
NM_000548.5(TSC2):c.774+13A>G
|
|
|
NM_000548.5(TSC2):c.774+15A>C
|
|
|
NM_000548.5(TSC2):c.774+18G>A
|
|
|
NM_000548.5(TSC2):c.774+19C>T
|
|
|
NM_000548.5(TSC2):c.774+20T>C
|
|
|
NM_000548.5(TSC2):c.774+6G>T
|
|
|
NM_000548.5(TSC2):c.775-11G>A
|
|
|
NM_000548.5(TSC2):c.775-11G>T
|
|
|
NM_000548.5(TSC2):c.775-14_775-13del
|
rs1555499015
|
|
NM_000548.5(TSC2):c.775-16G>C
|
rs1359566041
|
|
NM_000548.5(TSC2):c.775-18A>G
|
|
|
NM_000548.5(TSC2):c.775-5C>G
|
rs181827303
|
|
NM_000548.5(TSC2):c.775-6T>C
|
|
|
NM_000548.5(TSC2):c.775-9G>A
|
rs1596280442
|
|
NM_000548.5(TSC2):c.775-9G>C
|
rs1596280442
|
|
NM_000548.5(TSC2):c.782G>T (p.Arg261Leu)
|
rs45502703
|
|
NM_000548.5(TSC2):c.798C>A (p.Thr266=)
|
rs1172338384
|
|
NM_000548.5(TSC2):c.798C>T (p.Thr266=)
|
|
|
NM_000548.5(TSC2):c.801C>T (p.His267=)
|
|
|
NM_000548.5(TSC2):c.802C>T (p.Leu268=)
|
rs1396943042
|
|
NM_000548.5(TSC2):c.807C>A (p.Gly269=)
|
rs1297815371
|
|
NM_000548.5(TSC2):c.810C>T (p.His270=)
|
rs1596280678
|
|
NM_000548.5(TSC2):c.816C>G (p.Ala272=)
|
rs917246659
|
|
NM_000548.5(TSC2):c.816C>T (p.Ala272=)
|
rs917246659
|
|
NM_000548.5(TSC2):c.819C>A (p.Ile273=)
|
|
|
NM_000548.5(TSC2):c.825C>T (p.Asn275=)
|
|
|
NM_000548.5(TSC2):c.834C>T (p.His278=)
|
rs1596280873
|
|
NM_000548.5(TSC2):c.843G>A (p.Glu281=)
|
|
|
NM_000548.5(TSC2):c.848+12G>T
|
|
|
NM_000548.5(TSC2):c.848+13G>A
|
rs1402619251
|
|
NM_000548.5(TSC2):c.848+14G>T
|
|
|
NM_000548.5(TSC2):c.848+15T>G
|
|
|
NM_000548.5(TSC2):c.848+16G>C
|
|
|
NM_000548.5(TSC2):c.848+16_848+39dup
|
|
|
NM_000548.5(TSC2):c.848+18_848+37dup
|
|
|
NM_000548.5(TSC2):c.848+19G>T
|
|
|
NM_000548.5(TSC2):c.848+5G>A
|
rs1370989559
|
|
NM_000548.5(TSC2):c.848+8_848+9del
|
rs2151088282
|
|
NM_000548.5(TSC2):c.848+9G>A
|
rs1158054515
|
|
NM_000548.5(TSC2):c.849-10A>T
|
rs1596288175
|
|
NM_000548.5(TSC2):c.849-11A>G
|
|
|
NM_000548.5(TSC2):c.849-12G>A
|
rs2151104844
|
|
NM_000548.5(TSC2):c.849-13G>A
|
rs886051787
|
|
NM_000548.5(TSC2):c.849-17C>T
|
rs45517133
|
|
NM_000548.5(TSC2):c.849-18T>C
|
|
|
NM_000548.5(TSC2):c.849-19C>T
|
rs2151104623
|
|
NM_000548.5(TSC2):c.849-4T>G
|
|
|
NM_000548.5(TSC2):c.849-7C>T
|
|
|
NM_000548.5(TSC2):c.849-7del
|
rs1555499625
|
|
NM_000548.5(TSC2):c.852C>G (p.Ala284=)
|
|
|
NM_000548.5(TSC2):c.852C>T (p.Ala284=)
|
rs1555499631
|
|
NM_000548.5(TSC2):c.855C>T (p.Tyr285=)
|
rs794726983
|
|
NM_000548.5(TSC2):c.861G>A (p.Glu287=)
|
rs192567788
|
|
NM_000548.5(TSC2):c.867G>C (p.Ala289=)
|
rs375163125
|
|
NM_000548.5(TSC2):c.867G>T (p.Ala289=)
|
rs375163125
|
|
NM_000548.5(TSC2):c.870C>T (p.Pro290=)
|
rs1166082765
|
|
NM_000548.5(TSC2):c.873G>A (p.Leu291=)
|
|
|
NM_000548.5(TSC2):c.876G>T (p.Leu292=)
|
|
|
NM_000548.5(TSC2):c.87G>A (p.Arg29=)
|
rs1010489256
|
|
NM_000548.5(TSC2):c.906T>C (p.Ala302=)
|
rs2151107335
|
|
NM_000548.5(TSC2):c.909C>T (p.Leu303=)
|
rs1433197017
|
|
NM_000548.5(TSC2):c.918C>A (p.Ala306=)
|
rs2151107825
|
|
NM_000548.5(TSC2):c.918C>T (p.Ala306=)
|
rs2151107825
|
|
NM_000548.5(TSC2):c.921C>T (p.His307=)
|
rs878854121
|
|
NM_000548.5(TSC2):c.925C>T (p.Leu309Phe)
|
rs1258567486
|
|
NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln)
|
rs137853986
|
|
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys)
|
rs878854122
|
|
NM_000548.5(TSC2):c.933T>G (p.Ser311=)
|
rs1596289005
|
|
NM_000548.5(TSC2):c.936C>G (p.Leu312=)
|
rs2086239603
|
|
NM_000548.5(TSC2):c.936C>T (p.Leu312=)
|
rs2086239603
|
|
NM_000548.5(TSC2):c.945G>T (p.Ser315=)
|
rs763948768
|
|
NM_000548.5(TSC2):c.948G>T (p.Pro316=)
|
|
|
NM_000548.5(TSC2):c.953C>T (p.Ser318Phe)
|
rs1060500970
|
|
NM_000548.5(TSC2):c.954T>C (p.Ser318=)
|
|
|
NM_000548.5(TSC2):c.955G>A (p.Val319Met)
|
rs1432086775
|
|
NM_000548.5(TSC2):c.957G>T (p.Val319=)
|
rs2086246062
|
|
NM_000548.5(TSC2):c.960G>A (p.Leu320=)
|
rs1131825
|
|
NM_000548.5(TSC2):c.966A>C (p.Ser322=)
|
rs1236668149
|
|
NM_000548.5(TSC2):c.96G>A (p.Glu32=)
|
rs1567380772
|
|
NM_000548.5(TSC2):c.972C>T (p.Tyr324=)
|
rs45517143
|
|
NM_000548.5(TSC2):c.975+12T>C
|
|
|
NM_000548.5(TSC2):c.975+13C>G
|
rs200564575
|
|
NM_000548.5(TSC2):c.975+14T>C
|
|
|
NM_000548.5(TSC2):c.975+15G>C
|
|
|
NM_000548.5(TSC2):c.975+15G>T
|
rs753334357
|
|
NM_000548.5(TSC2):c.975+16T>C
|
rs769084318
|
|
NM_000548.5(TSC2):c.975+19G>A
|
|
|
NM_000548.5(TSC2):c.975+19G>T
|
rs909473730
|
|
NM_000548.5(TSC2):c.975+20C>T
|
|
|
NM_000548.5(TSC2):c.975+7C>A
|
rs372463702
|
|
NM_000548.5(TSC2):c.975+7C>G
|
rs372463702
|
|
NM_000548.5(TSC2):c.975+8G>T
|
rs137853984
|
|
NM_000548.5(TSC2):c.976-13G>A
|
|
|
NM_000548.5(TSC2):c.976-14G>C
|
rs397515186
|
|
NM_000548.5(TSC2):c.976-15G>C
|
|
|
NM_000548.5(TSC2):c.976-16C>G
|
|
|
NM_000548.5(TSC2):c.976-17C>A
|
rs2151133787
|
|
NM_000548.5(TSC2):c.976-17C>T
|
|
|
NM_000548.5(TSC2):c.976-20T>C
|
|
|
NM_000548.5(TSC2):c.976-22_976-6del
|
rs2151133589
|
|
NM_000548.5(TSC2):c.976-8T>C
|
rs2151134100
|
|
NM_000548.5(TSC2):c.984A>C (p.Ala328=)
|
|
|
NM_000548.5(TSC2):c.990G>C (p.Pro330=)
|
|
|
NM_000548.5(TSC2):c.996G>A (p.Glu332=)
|
rs757788971
|
|
NM_000548.5(TSC2):c.999G>A (p.Val333=)
|
rs746177025
|
|
NM_000548.5(TSC2):c.999G>T (p.Val333=)
|
rs746177025
|
|
NM_000548.5(TSC2):c.9A>G (p.Lys3=)
|
rs2150969793
|
|